Record 51 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Toward an understanding of the cause of mitral valve prolapse [editorial; comment]
COMMENTS: Comment on: Am J Hum Genet 1999 Nov;65(5):1242-51
AUTHOR(S): Towbin-JA
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Nov; 65(5): 1238-41
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-16; Connective-Tissue-Diseases-genetics; Mitral-Valve-Prolapse-genetics; Mutation-; Phenotype-; Sex-Factors; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Mitral-Valve-Prolapse-etiology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: COMMENT; EDITORIAL
MEDLINE ACCESSION NUMBER: 99452584
UPDATE CODE: 200002
Record 52 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Visuospatial construction.
AUTHOR(S): Mervis-CB; Robinson-BF; Pani-JR
ADDRESS OF AUTHOR: Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA. cbmervis@louisville.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Nov; 65(5): 1222-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-7-genetics; Gene-Deletion; Intelligence-genetics; Protein-Kinases-genetics; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Agnosia-genetics; *Genetics,-Behavioral; *Pattern-Recognition,-Visual
CHECKTAGS: Human; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CONTRACT OR GRANT NUMBERS: NS35102NSNINDS; HD29957HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37
NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases
MEDLINE ACCESSION NUMBER: 99452582
UPDATE CODE: 200002
Record 53 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Precocious puberty in a Williams syndrome patient.
AUTHOR(S): Douchi-T; Maruta-K; Kuwahata-R; Nagata-Y
ADDRESS OF AUTHOR: Department of Obstetrics and Gynecology, Faculty of Medicine, Kagoshima University, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Obstet-Gynecol. 1999 Nov; 94(5 Pt 2): 860
INTERNATIONAL STANDARD SERIAL NUMBER: 0029-7844
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Child-
MAJOR MeSH HEADINGS: *Puberty,-Precocious-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20012262
UPDATE CODE: 200002
SUBSET: AIM
Record 54 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.
AUTHOR(S): Novelli-A; Sabani-M; Caiola-A; Digilio-MC; Giannotti-A; Mingarelli-R; Novelli-G; Dallapiccola-B
ADDRESS OF AUTHOR: Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Mol-Cell-Probes. 1999 Aug; 13(4): 303-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0890-8508
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We describe the use of a FISH protocol for detecting chromosome microdeletions in peripheral blood smear leukocytes. This method has the advantage of a smaller sample requirement than classical metaphase chromosome analysis and the potential for analysis of a larger number of chromosome microdeletions using a routine blood smear. A selected series of 10 DiGeorge syndrome (DGS) and 12 Williams-Beuren syndrome (WBS) patients were correctly diagnosed by this method confirming results obtained by molecular cytogenetic metaphases. These results support effectiveness of interphase FISH analysis on peripheral blood smears as a focused, single-step method for the detection of chromosome microdeletions. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Chromosomes,-Human,-Pair-22; Chromosomes,-Human,-Pair-7; DiGeorge-Syndrome-blood; DiGeorge-Syndrome-genetics; Infant-; Williams-Syndrome-blood; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *DiGeorge-Syndrome-diagnosis; *In-Situ-Hybridization,-Fluorescence-methods; *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99371849
UPDATE CODE: 200002
Record 55 of 329 in MEDLINE EXPRESS (R) 2000/01-2000/10
TITLE: Concomitant reentrant tachycardias from concealed accessory atrioventricular bypass tract and atrioventricular nodal reentry in a patient with Williams syndrome.
AUTHOR(S): Kantharia-BK; Mittleman-RS
ADDRESS OF AUTHOR: Division of Cardiac Electrophysiology, University of Massachusetts Medical Center, Worcester, MA, USA. BKantharia@dnamail.com
SOURCE (BIBLIOGRAPHIC CITATION): Cardiology. 1999; 91(4): 264-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0008-6312
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: SWITZERLAND
ABSTRACT: Williams syndrome is characterized by a constellation of features including mental retardation and supravalvular aortic stenosis. Other cardiovascular abnormalities including arrhythmias contributing to sudden death have been described in these patients. In this report we describe a case of a 49-year-old female with Williams syndrome who presented with severe symptomatic supraventricular tachycardia. Cardiac electrophysiology study identified a left posteroseptal concealed accessory bypass tract responsible for atrioventricular reentrant tachycardia and a concomitant typical atrioventricular nodal tachycardia. Such unusual association of combination of two different types of supraventricular tachycardia and Williams syndrome has not been previously reported. Radiofrequency ablation was successfully performed to cure these arrhythmias.
MINOR MESH HEADINGS: Catheter-Ablation; Electrocardiography-; Heart-Conduction-System-physiopathology; Middle-Age; Syncope-etiology; Tachycardia,-Atrioventricular-Nodal-Reentry-surgery; Tachycardia,-Paroxysmal-etiology; Tachycardia,-Supraventricular-surgery; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Atrioventricular-Node-physiopathology; *Tachycardia,-Atrioventricular-Nodal-Reentry-etiology; *Tachycardia,-Supraventricular-etiology; *Williams-Syndrome-complications
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 20014784
UPDATE CODE: 200002
Record 56 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cloning, expression, and chromosomal mapping of the human 14-3-3gamma gene (YWHAG) to 7q11.23.
AUTHOR(S): Horie-M; Suzuki-M; Takahashi-E; Tanigami-A
ADDRESS OF AUTHOR: Otsuka GEN Research Institute, Otsuka Pharmaceutical Co., Ltd., 463-10 Kagasuno Kawauchi-cho, Tokushima, 771-0192, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1999 Sep 1; 60(2): 241-3
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The 14-3-3 family of proteins exerts diverse influences on the signal transduction pathways of cells. We have newly identified a human cDNA encoding the gamma subtype of the 14-3-3 family of genes. The deduced amino acid sequence of human 14-3-3gamma was identical to that of rat 14-3-3gamma. The human 14-3-3gamma gene (HGMW-approved symbol YWHAG) is highly expressed in brain, skeletal muscle, and heart. By fluorescence in situ hybridization analysis, the human 14-3-3gamma gene was mapped to chromosome 7q11.23. Radiation hybrid mapping has shown that this gene is localized 2.33 cR telomeric to D7S1870, a polymorphic marker located at the most telomeric end of the common deletion region of Williams-Beuren syndrome (WBS). This suggests that haploinsufficiency of 14-3-3gamma may not contribute to the WBS phenotype. However, information regarding the precise chromosomal location of a member of the 14-3-3 family of genes will aid in examining the relationship between this family of proteins and human disorders. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosome-Deletion; Chromosome-Mapping; Cloning,-Molecular; DNA-Primers-genetics; DNA,-Complementary-genetics; Evolution-; Gene-Expression; In-Situ-Hybridization,-Fluorescence; Molecular-Sequence-Data; Phenotype-; Pregnancy-; Protein-Isoforms-genetics; Rats-; Tissue-Distribution; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Proteins-genetics
CHECKTAGS: Animal; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 0
NAME OF SUBSTANCE: DNA-Primers; DNA,-Complementary; Protein-Isoforms; Proteins; 14-3-3-protein
MEDLINE ACCESSION NUMBER: 99417686
UPDATE CODE: 200001
SECONDARY SOURCE IDENTIFIER: GENBANK/AB024334
Record 57 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Visuo-spatial and linguistic abilities in a twin with Williams syndrome.
AUTHOR(S): Volterra-V; Longobardi-E; Pezzini-G; Vicari-S; Antenore-C
ADDRESS OF AUTHOR: Institute of Psychology CNR, Rome, Italy. direz@kant.irmkant.rm.cnr.it
SOURCE (BIBLIOGRAPHIC CITATION): J-Intellect-Disabil-Res. 1999 Aug; 43 ( Pt 4): 294-305
INTERNATIONAL STANDARD SERIAL NUMBER: 0964-2633
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: The present study reports a case of dizygotic twins, one boy with Williams syndrome (WS) and one typically developing girl, and compares their neuropsychological profiles. The goal of the present authors was to verify whether the child with WS displayed a cognitive profile which is unique to the syndrome. Several tests designed to assess visuo-perceptual, visuo-motor, linguistic and memory abilities were administered to both children when they were 10.9 years old. Compared to his sister, the boy with WS displayed a homogeneous developmental delay in both non-verbal and verbal abilities. He achieved a level of performance similar to his sister only in facial recognition, phonological word fluency and memory for phonologically similar words. Furthermore, despite the overall delayed performance of the boy, both the twins displayed a cognitive profile characterized by strength in lexical comprehension and relative weakness in visuo-motor abilities.
MINOR MESH HEADINGS: Child-; Developmental-Disabilities-diagnosis; Developmental-Disabilities-genetics; Developmental-Disabilities-psychology; Language-Development-Disorders-diagnosis; Language-Development-Disorders-psychology; Neuropsychological-Tests; Psychomotor-Disorders-diagnosis; Psychomotor-Disorders-psychology; Twins,-Dizygotic-genetics; Williams-Syndrome-diagnosis; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Diseases-in-Twins-genetics; *Intelligence-genetics; *Language-Development-Disorders-genetics; *Psychomotor-Disorders-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99394780
UPDATE CODE: 200001
Record 58 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Towards the neural basis for hypersociability in a genetic syndrome.
AUTHOR(S): Bellugi-U; Adolphs-R; Cassady-C; Chiles-M
ADDRESS OF AUTHOR: Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Neuroreport. 1999 Jun 3; 10(8): 1653-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0959-4965
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WMS), a rare disorder with a distinctive profile of medical, psychological, neurophysiological and neuroanatomical characteristics, results from hemizygous deletion of about 20 genes. The phenotype exhibits specific dissociations in higher cognitive functions: general cognitive deficits but spared linguistic abilities; extreme spatial cognitive deficits, but intact face processing. Of special interest is an unusual social phenotype in WMS: an overly friendly, engaging personality and excessive sociability with strangers. In this first experimental study of social behavior in WMS, we report that WMS subjects show an abnormal positive bias in their social judgments of unfamiliar individuals, consistent with their behavior in real life. Our findings contribute to an understanding of the neural and genetic bases of human social behavior.
MINOR MESH HEADINGS: Adult-; Neuropsychological-Tests
MAJOR MeSH HEADINGS: *Social-Behavior; *Williams-Syndrome-psychology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: P01HD33113HDNICHD; P50; PO1DC01289DCNIDCD
MEDLINE ACCESSION NUMBER: 99429660
UPDATE CODE: 200001
Record 59 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Familial occurrence of idiopathic infantile hypercalcemia.
AUTHOR(S): McTaggart-SJ; Craig-J; MacMillan-J; Burke-JR
ADDRESS OF AUTHOR: Mater Misericordiae Hospital and Royal Children's Hospital, Brisbane, Queensland, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Nephrol. 1999 Oct; 13(8): 668-71
INTERNATIONAL STANDARD SERIAL NUMBER: 0931-041X
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. Identification of the gene for Williams syndrome now allows a clear separation of IIH from Williams syndrome. The inheritance and pathogenesis of IIH remains largely unknown, with only sporadic cases reported to date. This report describes a family with two siblings with IIH. The pedigree is consistent with autosomal recessive inheritance, but more complex inheritance is suggested by the occurrence of hypercalciuria in a number of family members. Although one affected patient demonstrated elevated 1,25-dihydroxyvitamin D(3) levels, no conclusions regarding the pathogenesis of this condition could be drawn.
MINOR MESH HEADINGS: Adult-; Calcium-urine; Child,-Preschool; Infant-; Vitamin-D-poisoning; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Hypercalcemia-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 1406-16-2; 7440-70-2
NAME OF SUBSTANCE: Vitamin-D; Calcium
MEDLINE ACCESSION NUMBER: 99431588
UPDATE CODE: 200001
Record 60 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome: an update on clinical and molecular aspects.
AUTHOR(S): Metcalfe-K
ADDRESS OF AUTHOR: Department of Clinical Genetics St Mary's Hospital Manchester M13 0JH, UK.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Dis-Child. 1999 Sep; 81(3): 198-200
INTERNATIONAL STANDARD SERIAL NUMBER: 0003-9888
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Child-Behavior-Disorders-genetics; Child,-Preschool; Infant-; Infant,-Newborn; Phenotype-; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99421541
UPDATE CODE: 199912
SUBSET: AIM
Record 61 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome]
ORIGINAL TITLE: Caracterizacion clinica y genetica de 80 pacientes con sospecha clinica de sindrome de Williams-Beuren.
AUTHOR(S): Mila-M; Carrio-A; Sanchez-A; Gomez-D; Jimenez-D; Estivill-X; Ballesta-F
ADDRESS OF AUTHOR: Servicio de Genetica, Hospital Clinic i Provincial, Barcelona. montse@medicina.ub.es
SOURCE (BIBLIOGRAPHIC CITATION): Med-Clin-Barc. 1999 Jun 19; 113(2): 46-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0025-7753
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: SPANISH; NON-ENGLISH
COUNTRY OF PUBLICATION: SPAIN
ABSTRACT: BACKGROUND: Williams-Beuren syndrome is a developmental disorder affecting vascular and connective tissues and central nervous system. The syndrome is caused by a submicroscopic deletion in the chromosome 7 implicating the 7q11.23 region. Fluorescence in situ hybridization (FISH) and molecular studies allow us to confirm the clinical suspicion of this syndrome. PATIENTS AND METHODS: We report clinical evaluation, FISH using Elastin Williams/D7S427 probe and molecular study with markers: D7S672, D7S653, D7S489B, D7S2476, D7S1870 and D7S489A, in 80 patients referred to test for Williams-Beuren syndrome. RESULTS: We found hemizygosity for the critical region in 36 patients. From 69 cases studied by FISH, 28 showed the deletion. Molecular studies in 78 cases showed loss of heterozygosity (LOH) in 26 patients. The patients presented the deletion from the paternal or maternal chromosome at equal frequency. Clinical evaluation of mental retardation, facial features, esotopia dental, malocclusion, hoarse voice, supravalvular aortic stenosis (SVAS), hernias, join limitation, WBS personality and mental retardation from positive and negative patients showed estatistical significant differences for all items except mental retardation and joint limitation. The most significant item was the presence of SVAS. CONCLUSION: This study confirms the usefulness of genetic studies as a diagnostic tool for William-Beuren Syndrome.
MINOR MESH HEADINGS: Chromosome-Abnormalities-genetics; Chromosome-Deletion; Chromosomes,-Human,-Pair-7-genetics; DNA-Mutational-Analysis; English-Abstract; Genetic-Markers; In-Situ-Hybridization,-Fluorescence-methods; Karyotyping-; Microsatellite-Repeats-genetics; Point-Mutation-genetics; Polymerase-Chain-Reaction
MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: English-Abstract; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: Genetic-Markers
MEDLINE ACCESSION NUMBER: 99354350
UPDATE CODE: 199912
Record 62 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Cofilin phosphorylation and regulation of actin cytoskeletal reorganization by LIM-kinase]
AUTHOR(S): Mizuno-K
ADDRESS OF AUTHOR: Biological Institute, Graduate School of Science, Tohoku University, Sendai.
SOURCE (BIBLIOGRAPHIC CITATION): Seikagaku. 1999 May; 71(5): 345-50
INTERNATIONAL STANDARD SERIAL NUMBER: 0037-1017
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
MINOR MESH HEADINGS: Elastin-genetics; Gene-Deletion; Phosphorylation-; Protein-Kinases-genetics; Protein-Kinases-physiology; Signal-Transduction; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Actins-metabolism; *Cytoskeleton-metabolism; *Microfilament-Proteins-metabolism; *Protein-Kinases
CHECKTAGS: Animal
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37; 0; 0; 0; 9007-58-3
NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases; cofilin; Actins; Microfilament-Proteins; Elastin
MEDLINE ACCESSION NUMBER: 99320278
UPDATE CODE: 199912
Record 63 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Genetically dissociated components of working memory: evidence from Down's and Williams syndrome.
AUTHOR(S): Jarrold-C; Baddeley-AD; Hewes-AK
ADDRESS OF AUTHOR: Centre for the Study of Memory and Learning, Department of Experimental Psychology, University of Bristol, UK. c.jarrold@bristol.ac.uk
SOURCE (BIBLIOGRAPHIC CITATION): Neuropsychologia. 1999 Jun; 37(6): 637-51
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3932
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Wang and Bellugi [J clin exp Neuropsychol 1994;16:317 22] have suggested that Down's and Williams syndrome might be associated with specific and contrasting working memory deficits; with impaired verbal short-term memory in Down's syndrome, and a visuo-spatial short-term memory deficit in Williams syndrome. In two studies we examine whether these apparent deficits might simply be a consequence of the general pattern of learning difficulties associated with these disorders. Experiment 1 compared verbal and visuo-spatial short-term memory abilities in these groups, using analysis of covariance to control for mental age differences. In Experiment 2 individuals with Williams syndrome were matched to control groups for non-verbal mental age, and the short-term memory abilities of these matched groups were compared. The results of both experiments are broadly consistent with those reported by Wang and Bellugi, and support the view that working memory can be dissociated into separate subsystems.
MINOR MESH HEADINGS: Adolescence-; Adult-; Analysis-of-Variance; Case-Control-Studies; Child-; Chromosomes,-Human,-Pair-21; Chromosomes,-Human,-Pair-7; Down-Syndrome-genetics; Intelligence-physiology; Learning-Disorders-genetics; Memory-Disorders-classification; Memory-Disorders-genetics; Space-Perception-physiology; Verbal-Behavior-physiology; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Attention-physiology; *Down-Syndrome-physiopathology; *Learning-Disorders-physiopathology; *Memory-Disorders-physiopathology; *Memory,-Short-Term-physiology; *Williams-Syndrome-physiopathology
CHECKTAGS: Comparative-Study; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99316913
UPDATE CODE: 199911
Record 64 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Severe adult-type Williams-Campbell syndrome (Williams-Campbell-type bronchiectasis)]
AUTHOR(S): Kimoto-T; Kawamura-T; Nakahara-Y; Mochizuki-Y
ADDRESS OF AUTHOR: Department of Internal Medicine, National Himeji Hospital, Hyogo, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Nihon-Kokyuki-Gakkai-Zasshi. 1999 May; 37(5): 429-32
INTERNATIONAL STANDARD SERIAL NUMBER: 1343-3490
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: JAPANESE; NON-ENGLISH
COUNTRY OF PUBLICATION: JAPAN
ABSTRACT: A 70-year-old man was admitted to our hospital because of dyspnea. Arterial blood gas analysis indicated severe type-II respiratory failure. Williams-Campbell-type bronchiectasis was suspected because chest radiographs disclosed multiple cystic shadows in both lungs. Although inspiratory chest radiographs and computed tomographic (CT) scans showed cystic bronchiectasis, expiratory chest radiographs and CT scans demonstrated characteristic collapse of the ectatic bronchi. Continuous fluoroscopic visualization of the respiratory phase demonstrated bronchial dilatation during inhalation and collapse during exhalation. Williams-Campbell-type bronchiectasis was diagnosed on the basis of the radiological findings. Compared with previous cases of Williams-Campbell syndrome reported in Japan, this case was interesting because the patient exhibited severe respiratory failure and because the dilatating and collapsing bronchi were demonstrated by fluoroscopy.
MINOR MESH HEADINGS: Aged-; English-Abstract; Fluoroscopy-; Radiography,-Thoracic; Respiratory-Insufficiency; Syndrome-; Tomography,-X-Ray-Computed
MAJOR MeSH HEADINGS: *Bronchiectasis-radiography
CHECKTAGS: Case-Report; English-Abstract; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 99338738
UPDATE CODE: 199911
Record 65 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.
AUTHOR(S): Wang-MS; Schinzel-A; Kotzot-D; Balmer-D; Casey-R; Chodirker-BN; Gyftodimou-J; Petersen-MB; Lopez-Rangel-E; Robinson-WP
ADDRESS OF AUTHOR: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Sep 3; 86(1): 34-43
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investigated for associations with clinical outcome. In an analysis of 85 confirmed deletion cases, no statistically significant associations were found after Bonferroni's correction for multiple pairwise comparisons. Furthermore, the present data do not support presence of imprinted genes in the WBS common deletion despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference in the present data. Also, pairwise comparisons between individual WBS clinical features have been conducted and revealed significant associations between (1) low birth weight and poor postnatal weight gain (<10th percentile at the time of examination) and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association could indicate a common underlying etiology. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Alleles-; Birth-Weight; Elastin-genetics; Gene-Frequency; Genotype-; Hypercalcemia-; Infant,-Newborn; Linkage-Disequilibrium; Phenotype-; Polymorphism-Genetics-genetics; Protein-Kinases-genetics; Weight-Gain; Williams-Syndrome-etiology; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Genomic-Imprinting-genetics; *Sequence-Deletion-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37; 9007-58-3
NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases; Elastin
MEDLINE ACCESSION NUMBER: 99369613
UPDATE CODE: 199911
Record 66 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Hypercalcemia of the newborn: etiology, evaluation, and management.
AUTHOR(S): Rodd-C; Goodyer-P
ADDRESS OF AUTHOR: Department of Pediatrics, McGill University, Montreal, Quebec, Canada. mdcr@musica.mcgill.ca
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Nephrol. 1999 Aug; 13(6): 542-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0931-041X
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Hypercalcemia in infants is uncommon but has potentially serious sequelae. This review examines four cases of neonatal hypercalcemia, emphasizing appropriate investigations and treatment of acute and chronic hypercalcemia. The paper provides additional information as to the mechanisms of calcium dysregulation in idiopathic infantile hypercalcemia, Williams syndrome, vitamin D intoxication, and parathyroid and parathyroid-related protein disturbances.
MINOR MESH HEADINGS: Hypercalcemia-diagnosis; Hypercalcemia-etiology; Hypercalcemia-therapy; Infant-; Infant,-Newborn; Infant,-Newborn,-Diseases-diagnosis; Infant,-Newborn,-Diseases-etiology; Infant,-Newborn,-Diseases-therapy
MAJOR MeSH HEADINGS: *Hypercalcemia-; *Infant,-Newborn,-Diseases
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
MEDLINE ACCESSION NUMBER: 99379355
UPDATE CODE: 199911
Record 67 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome.
AUTHOR(S): Cammareri-V; Vignati-G; Nocera-G; Beck-Peccoz-P; Persani-L
ADDRESS OF AUTHOR: Divisione di Pediatria, Presidio Ospedaliero M. Melloni, Milan, Italy. vcamma@tin.it
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Aug 27; 85(5): 491-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: A girl with Williams syndrome (WS) presented with elevated thyrotropin (TSH) levels (7.0 microU/ml), normal free thyroid hormone concentrations, and absent antithyroid autoantibodies. Thyroid ultrasonography and scintigraphy showed hemiagenesis of the left lobe and no evidence of ectopic tissue. TSH response to thyrotropin-releasing hormone (TRH) injection (200 microg/mq, i.v.) was exaggerated and prolonged, suggesting subclinical hypothyroidism. The biological activity of circulating TSH was slightly below the normal range [TSH bioactivity (B) to immunoreactivity (I) ratio (TSH B/I) = 0.4, normal: 0.6-2.2]. These abnormalities are similar to those seen in patients with hypothalamic hypothyroidism. Thyroid function is not a recognized manifestation of WS and is not routinely investigated. However, abnormalities of the hypothalamic-pituitary-thyroid (HPT) axis and thyroid dysgenesis have been found in other WS cases. Genes mapping at 7q11.23, contiguous to the chromosomal region deleted in most WS patients, may be involved in the development of the thyroid gland, contributing to the complex phenotype of WS. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adult-; Aging-; Chromosome-Mapping; Chromosomes,-Human,-Pair-7; Follow-Up-Studies; Hypothyroidism-etiology; Infant-; Protirelin-diagnostic-use; Radiopharmaceuticals-diagnostic-use; Sodium-Pertechnetate-Tc-99m-diagnostic-use; Thyroid-Gland-radionuclide-imaging; Thyroxine-blood; Triiodothyronine-blood; Williams-Syndrome-genetics
MAJOR MeSH HEADINGS: *Thyroid-Gland-abnormalities; *Thyrotropin-blood; *Williams-Syndrome-blood; *Williams-Syndrome-pathology
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 23288-60-0; 24305-27-9; 6893-02-3; 7488-70-2; 9002-71-5
NAME OF SUBSTANCE: Radiopharmaceuticals; Sodium-Pertechnetate-Tc-99m; Protirelin; Triiodothyronine; Thyroxine; Thyrotropin
MEDLINE ACCESSION NUMBER: 99362346
UPDATE CODE: 199911
Record 68 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Clinical and behavioral characteristics in FG syndrome.
AUTHOR(S): Graham-JM Jr; Superneau-D; Rogers-RC; Corning-K; Schwartz-CE; Dykens-EM
ADDRESS OF AUTHOR: Ahmanson Department of Pediatrics, UCLA University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars-Sinai Medical Center, Los Angeles, California 90048, USA. jgraham@xchg.peds.csmc.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Aug 27; 85(5): 470-5
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Abnormalities,-Multiple-physiopathology; Adult-; Child-; Child,-Preschool; Corpus-Callosum-abnormalities; Diagnosis,-Differential; Genes,-Recessive; Personality-Tests; Prader-Willi-Syndrome-genetics; Prader-Willi-Syndrome-psychology; Psychological-Tests; Syndrome-; Williams-Syndrome-genetics; Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Abnormalities,-Multiple-genetics; *Abnormalities,-Multiple-psychology; *Mental-Retardation-genetics; *X-Chromosome
CHECKTAGS: Comparative-Study; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM08243GMNIGMS; P01HD2265706HDNICHD
MEDLINE ACCESSION NUMBER: 99362342
UPDATE CODE: 199911
Record 69 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Brom's three-patch technique for repair of supravalvular aortic stenosis.
AUTHOR(S): Hazekamp-MG; Kappetein-AP; Schoof-PH; Ottenkamp-J; Witsenburg-M; Huysmans-HA; Bogers-AJ
ADDRESS OF AUTHOR: Department of Cardiothoracic Surgery, Leiden University Medical Centre, Leiden, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): J-Thorac-Cardiovasc-Surg. 1999 Aug; 118(2): 252-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5223
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: Case histories of all patients (n = 29) operated on for supravalvular aortic stenosis from 1962 to the present were reviewed to study different techniques and outcomes. The technique of symmetric aortoplasty with 3 patches (1 in each sinus) is described and compared with other methods. METHODS: Case reports were reviewed and follow-up was completed by contacting the patient's (pediatric) cardiologist. We aimed for a last follow-up visit, including Doppler echocardiographic studies, in a period no more than 12 months earlier than December 1997. Supravalvular aortic stenosis was discrete in 25 and diffuse with involvement of the aortic arch and arch vessels in 4 patients. Additional anomalies were bicuspid aortic valve (n = 5), coarctation (n = 3), ascending aortic aneurysm (n = 1), mitral valve insufficiency (n = 2), pulmonary valvular stenosis (n = 1), and peripheral pulmonary artery stenosis (n = 2). Eleven patients had Williams syndrome and 1 patient had Noonan syndrome. Symmetric aortoplasty with 3 patches (1 in each sinus) was used in 13 patients, whereas other nonsymmetric methods (1, 2, or Y-shaped patches) were used in 16 patients. Mean follow-up was 10.5 years (range: 4 months-36 years). RESULTS: All techniques adequately decreased the pressure gradient. Progression of preoperative aortic valve insufficiency or de novo regurgitation was not observed except in 1 patient in whom the patches inserted were too large. CONCLUSIONS: No difference could be demonstrated in outcome for any surgical technique; however, reconstruction of the aortic root with autologous pericardial patches in each sinus after transection of the aorta has the advantage of symmetry while restoring the normal aortic root anatomy.
MINOR MESH HEADINGS: Adolescence-; Adult-; Anastomosis,-Surgical; Aorta,-Thoracic-surgery; Aorta,-Thoracic-ultrasonography; Aortic-Valve-surgery; Aortic-Valve-ultrasonography; Aortic-Valve-Stenosis-mortality; Aortic-Valve-Stenosis-ultrasonography; Cardiopulmonary-Bypass; Child-; Child,-Preschool; Disease-Free-Survival; Echocardiography,-Doppler; Follow-Up-Studies; Heart-Catheterization; Middle-Age; Retrospective-Studies; Survival-Rate; Treatment-Outcome
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-surgery; *Cardiac-Surgical-Procedures-methods
CHECKTAGS: Comparative-Study; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99354059
UPDATE CODE: 199910
SUBSET: AIM
Record 70 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment.
AUTHOR(S): Ghirri-P; Bottone-U; Coccoli-L; Bernardini-M; Vuerich-M; Cuttano-A; Riparbelli-C; Pellegrinetti-G; Boldrini-A
ADDRESS OF AUTHOR: Divisione di Neonatologia, Universita di Pisa, Ospedale S. Chiara, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): J-Endocrinol-Invest. 1999 May; 22(5): 349-53
INTERNATIONAL STANDARD SERIAL NUMBER: 0391-4097
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ITALY
ABSTRACT: Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyperparathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hypersensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.
MINOR MESH HEADINGS: Adrenal-Cortex-Hormones-therapeutic-use; Calcifediol-biosynthesis; Calcitonin-secretion; Calcitriol-blood; Calcium,-Dietary-administration-and-dosage; Diuretics,-Sulfamyl; Fluid-Therapy; Furosemide-therapeutic-use; Hypercalcemia-blood; Hyperparathyroidism-blood; Hyperparathyroidism-complications; Infant-; Infant,-Newborn; Parathyroid-Hormones-blood; Vitamin-D-pharmacology
MAJOR MeSH HEADINGS: *Hypercalcemia-diagnosis; *Hypercalcemia-therapy
CHECKTAGS: Case-Report; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0; 1406-16-2; 19356-17-3; 32222-06-3; 54-31-9; 9007-12-9
NAME OF SUBSTANCE: Adrenal-Cortex-Hormones; Calcium,-Dietary; Diuretics,-Sulfamyl; Parathyroid-Hormones; Vitamin-D; Calcifediol; Calcitriol; Furosemide; Calcitonin
MEDLINE ACCESSION NUMBER: 99328135
UPDATE CODE: 199910
Record 71 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [What's new in pediatric cardiology?]
ORIGINAL TITLE: Quoi de neuf en cardiologie pediatrique?
AUTHOR(S): Bonnet-D; Sidi-D
ADDRESS OF AUTHOR: Service de cardiologie pediatrique, hopital Necker-Enfants-malades, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): Arch-Pediatr. 1999 Jul; 6(7): 777-80
INTERNATIONAL STANDARD SERIAL NUMBER: 0929-693X
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: In recent years, close collaborations have been established between pediatric cardiology, medical and molecular genetics, fetal cardiology and pediatric radiology. As a consequence, several congenital heart defects and syndromes including cardiovascular malformations have been related to microdeletions such as 22q11 in Di George syndrome and 7q in Williams syndrome. Prenatal detection of heart malformations has become a crucial part of the management of life-threatening malformations of the neonate such as the transposition of the great arteries or the coarctation of the aorta. We are at the dawn of a new era of the development of preventive cardiovascular medicine starting from childhood thanks to new techniques of echo-tracking. Finally, three-dimensional reconstruction of heart defects by using ultrasound, X-ray or MRI have dramatically improved the diagnosis and the therapeutic strategies of cardiac diseases.
MINOR MESH HEADINGS: Child-; Chromosomes,-Human,-Pair-22; Chromosomes,-Human,-Pair-7; English-Abstract; Genetics,-Biochemical-trends; Pregnancy-; Prenatal-Diagnosis
MAJOR MeSH HEADINGS: *Cardiology-trends; *Heart-Defects,-Congenital-diagnosis; *Heart-Defects,-Congenital-genetics; *Pediatrics-trends
CHECKTAGS: English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 99358470
UPDATE CODE: 199910
Record 72 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: A complete physical contig and partial transcript map of the Williams syndrome critical region.
AUTHOR(S): Hockenhull-EL; Carette-MJ; Metcalfe-K; Donnai-D; Read-AP; Tassabehji-M
ADDRESS OF AUTHOR: University Department of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, M13 0JH, United Kingdom.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1999 Jun 1; 58(2): 138-45
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a contiguous gene syndrome caused by hemizygosity for a chromosomal deletion at 7q11.23. The range of phenotypes includes mental retardation, dysmorphic facies, heart abnormalities, short stature, a specific cognitive profile, hyperacusis, and infantile hypercalcaemia. To identify all the deleted genes, we have constructed a detailed physical map and complete BAC/PAC contig of the critical region, extending a distance of approximately 2 Mb and delimited by the nondeleted markers D7S1816 and D7S489A. Somatic cell hybrids of WS patients were made and used to define the centromeric and telomeric deletion breakpoints, enabling the size of the WS deletion to be defined as approximately 1.4 Mb. Genes previously mapped to the region have been located on the contig, and we have isolated eight transcripts, two of which have been characterized as the genes CPETR1 and CPETR2. This contig and expressed sequence map will form the basis for the construction of a complete transcription map of the deleted region and will enable genotype-phenotype correlations to be attempted to identify the individual components of WS. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Chromosomes,-Human,-Pair-7; Chromosomes,-Yeast-Artificial; DNA-Primers; Hybrid-Cells; In-Situ-Hybridization,-Fluorescence
MAJOR MeSH HEADINGS: *Chromosome-Mapping; *Physical-Chromosome-Mapping; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0
NAME OF SUBSTANCE: DNA-Primers
MEDLINE ACCESSION NUMBER: 99296828
UPDATE CODE: 199910
Record 73 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: ACF consists of two subunits, Acf1 and ISWI, that function cooperatively in the ATP-dependent catalysis of chromatin assembly.
AUTHOR(S): Ito-T; Levenstein-ME; Fyodorov-DV; Kutach-AK; Kobayashi-R; Kadonaga-JT
ADDRESS OF AUTHOR: Department of Biology and Center for Molecular Genetics, University of California, San Diego, La Jolla, California 92093-0347, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genes-Dev. 1999 Jun 15; 13(12): 1529-39
INTERNATIONAL STANDARD SERIAL NUMBER: 0890-9369
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The assembly of core histones and DNA into periodic nucleosome arrays is mediated by ACF, an ISWI-containing factor, and NAP-1, a core histone chaperone, in an ATP-dependent process. We describe the isolation of Drosophila acf1 cDNA, which encodes the p170 and p185 forms of the Acf1 protein in ACF. Acf1 is a novel protein that contains two PHD fingers, one bromodomain, and two new conserved regions. Human WSTF, which is encoded by one of multiple genes that is deleted in Williams syndrome individuals, is the only currently known mammalian protein with each of the conserved motifs in Acf1. Purification of the native form of Acf1 led to the isolation of ACF comprising Acf1 (both p170 and p185 forms) and ISWI. Native Acf1 did not copurify with components of NURF or CHRAC, which are other ISWI-containing complexes in Drosophila. Purified recombinant ACF, consisting of Acf1 (either p185 alone or both p170 and p185) and ISWI, catalyzes the deposition of histones into extended periodic nucleosome arrays. Notably, the Acf1 and ISWI subunits function synergistically in the assembly of chromatin. ISWI alone exhibits a weak activity that is approximately 3% that of ACF. These results indicate that both Acf1 and ISWI participate in the chromatin assembly process and suggest further that the Acf1 subunit confers additional functionality to the general 'motor' activity of ISWI.
MINOR MESH HEADINGS: Adenosinetriphosphatase-metabolism; Amino-Acid-Sequence; Base-Sequence; Catalysis-; Drosophila-embryology; Drosophila-growth-and-development; DNA,-Complementary; Molecular-Sequence-Data; Nucleosomes-metabolism; Proteins-genetics; Proteins-metabolism; Rabbits-; Transcription-Factors-genetics; Transcription-Factors-metabolism
MAJOR MeSH HEADINGS: *Adenosine-Triphosphate-metabolism; *Adenosinetriphosphatase-physiology; *Chromatin-physiology; *Proteins-physiology; *Transcription-Factors-physiology
CHECKTAGS: Animal; Human; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM46995GMNIGMS; GM58272GMNIGMS; CA13106CANCI
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.6.1.3; 0; 0; 0; 0; 0; 0; 0; 56-65-5
NAME OF SUBSTANCE: Adenosinetriphosphatase; Acf1-protein; Chromatin; DNA,-Complementary; ISWI-protein; Nucleosomes; Proteins; Transcription-Factors; Adenosine-Triphosphate
MEDLINE ACCESSION NUMBER: 99315627
UPDATE CODE: 199910
SECONDARY SOURCE IDENTIFIER: GENBANK/AF148962
Record 74 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Acute pure red cell aplasia associated with allopurinol therapy.
AUTHOR(S): Lin-YW; Okazaki-S; Hamahata-K; Watanabe-K; Usami-I; Yoshibayashi-M; Akiyama-Y; Kubota-M
ADDRESS OF AUTHOR: Department of Pediatrics, Faculty of Medicine, Kyoto University, Kyoto, Japan.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hematol. 1999 Jul; 61(3): 209-11
INTERNATIONAL STANDARD SERIAL NUMBER: 0361-8609
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Several investigators have reported patients with acute pure red cell aplasia (PRCA) caused by anticonvulsants, antibiotics, or antithyroid agents. Allopurinol is known to be a causative agent of aplastic anemia, but there have been few reports of acute PRCA induced by allopurinol. We describe here a 15-year-old boy who suffered from anemia 6 weeks after initiation of allopurinol therapy; his anemia immediately improved after cessation of the drug. His bone marrow showed severe erythroid hypoplasia with a myeloid/erythroid ratio of 18.6 and low expression of glycophorin A detected on cell-surface antigen analysis. No morphological abnormalities were observed in myeloid series and megakaryocytes. The prolonged plasma iron disappearance rate and the decreased plasma iron turnover rate also indicated erythroid hypoplasia. He had been free from any infections, including parvovirus B19, before manifestation of PRCA. Taken together, these results suggest a diagnosis of acute PRCA. This side effect of allopurinol should be taken into consideration. Copyright 1999 Wiley-Liss, Inc.
MINOR MESH HEADINGS: Adolescence-; Antimetabolites-adverse-effects; Bone-Marrow-Cells-pathology; Erythrocyte-Count; Hematopoietic-Stem-Cells-pathology; Leukocyte-Count; Megakaryocytes-pathology; Platelet-Count; Red-Cell-Aplasia,-Pure-blood; Red-Cell-Aplasia,-Pure-pathology; Williams-Syndrome-surgery
MAJOR MeSH HEADINGS: *Acidosis-drug-therapy; *Allopurinol-adverse-effects; *Red-Cell-Aplasia,-Pure-chemically-induced
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 315-30-0
NAME OF SUBSTANCE: Antimetabolites; Allopurinol
MEDLINE ACCESSION NUMBER: 99327139
UPDATE CODE: 199909
Record 75 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Growth hormone treatment in a child with Williams-Beuren syndrome: a case report.
AUTHOR(S): Kuijpers-GM; De-Vroede-M; Knol-HE; Jansen-M
ADDRESS OF AUTHOR: Department of Endocrinology, Wilhelmina Children's Hospital, Utrecht University, The Netherlands. g.kuijpers@wkz.azu.nl
SOURCE (BIBLIOGRAPHIC CITATION): Eur-J-Pediatr. 1999 Jun; 158(6): 451-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6199
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Growth retardation is a consistent finding in Williams-Beuren syndrome. The cause of short stature in this syndrome is unknown. Endocrine studies have failed to reveal abnormalities in the growth hormone-insulin-like growth factor I axis. We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and responded well to growth hormone therapy. CONCLUSION: Although growth hormone deficiency is not likely to be a common cause of short stature in Williams-Beuren syndrome, we nevertheless recommend evaluation of the growth hormone-insulin-like growth factor I axis in all cases.
MINOR MESH HEADINGS: Child,-Preschool; Growth-Disorders-drug-therapy; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Growth-Disorders-etiology; *Insulin-Like-Growth-Factor-I-metabolism; *Somatropin-deficiency; *Somatropin-therapeutic-use; *Williams-Syndrome-physiopathology
CHECKTAGS: Case-Report; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 12629-01-5; 67763-96-6
NAME OF SUBSTANCE: Somatropin; Insulin-Like-Growth-Factor-I
MEDLINE ACCESSION NUMBER: 99304735
UPDATE CODE: 199909
Record 76 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Elevated ambulatory blood pressure in 20 subjects with Williams syndrome.
AUTHOR(S): Broder-K; Reinhardt-E; Ahern-J; Lifton-R; Tamborlane-W; Pober-B
ADDRESS OF AUTHOR: Pediatric Service, Massachusetts General Hospital, Boston, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Apr 23; 83(5): 356-60
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Previous studies report conflicting frequencies of hypertension in cohorts of patients with Williams syndrome (WS). We studied blood pressure (BP) in WS using 24-hour ambulatory BP monitoring. This technique reliably measures day- and nighttime BP in a subject's natural environment and provides better prognostic information on long-term risks of hypertension than casual BP determinations. Twenty WS subjects evaluated through a multidisciplinary WS clinic and 35 age and gender-matched controls were studied. We found that WS subjects had significantly higher ambulatory BP than controls. After controlling for age, sex, and weight, the diagnosis of WS added approximately 10 mmHg to mean daytime and nighttime BPs. Hypertension, as defined by elevated mean daytime BP, was present in 40% of WS subjects versus 14% of controls (P < 0.05); among the children studied this difference was even more dramatic with 46% of WS children versus 6% of control children classified as hypertensive (P = 0.01). We also demonstrated normal diurnal BP variation but no evidence of a "white coat" effect or increased BP variability. Interestingly, parental reporting of a history of infantile hypercalcemia was strongly associated with the presence of hypertension (P = 0.008). Our data demonstrate that both children and adults with WS have higher mean BP and higher frequency of hypertension than healthy controls. Thus, elevated BP readings in the office setting should not be dismissed but require more thorough assessment.
MINOR MESH HEADINGS: Adolescence-; Adult-; Child-; Time-Factors
MAJOR MeSH HEADINGS: *Blood-Pressure; *Blood-Pressure-Monitoring,-Ambulatory; *Hypertension-etiology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: RR06022RRNCRR
MEDLINE ACCESSION NUMBER: 99247727
UPDATE CODE: 199909
Record 77 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.
AUTHOR(S): Osborne-LR
ADDRESS OF AUTHOR: Department of Genetics & Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Mol-Genet-Metab. 1999 May; 67(1): 1-10
INTERNATIONAL STANDARD SERIAL NUMBER: 1096-7192
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Chromosome-Mapping; Chromosomes,-Human,-Pair-7; Elastin-genetics; Genotype-; Phenotype-
MAJOR MeSH HEADINGS: *Gene-Deletion; *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 99263310
UPDATE CODE: 199909
Record 78 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome.
AUTHOR(S): Bellugi-U; Lichtenberger-L; Mills-D; Galaburda-A; Korenberg-JR
ADDRESS OF AUTHOR: The Salk Institute for Biological Studies, La Jolla, CA 92037, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Trends-Neurosci. 1999 May; 22(5): 197-207
INTERNATIONAL STANDARD SERIAL NUMBER: 0166-2236
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Williams syndrome (WMS) is a rare sporadic disorder that yields a distinctive profile of medical, cognitive, neurophysiological, neuroanatomical and genetic characteristics. The cognitive hallmark of WMS is a dissociation between language and face processing (relative strengths) and spatial cognition (profound impairment). Individuals with WMS also tend to be overly social, behavior that is opposite to that seen in autism. A genetic hallmark of WMS is a deletion on chromosome band 7q11.23. Williams syndrome is also associated with specific neuromorphological and neurophysiological profiles: proportional sparing of frontal, limbic and neocerebellar structures is seen using MRI; and abnormal functional organization of the neural systems that underlie both language and face processing is revealed through studies using event-related potentials. The non-uniformity in the cognitive, neuromorphological and neurophysiological domains of WMS make it a compelling model for elucidating the relationships between cognition, the brain and, ultimately, the genes.
MINOR MESH HEADINGS: Williams-Syndrome-psychology
MAJOR MeSH HEADINGS: *Brain-physiology; *Brain-Chemistry-genetics; *Cognition-physiology; *Genetics,-Biochemical; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CONTRACT OR GRANT NUMBERS: PO1HD33113HDNICHD; P50NS22343NSNINDS; DC01289DCNIDCD
MEDLINE ACCESSION NUMBER: 99257321
UPDATE CODE: 199909
Record 79 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Acute dissection during aortography in a patient with William's syndrome.
AUTHOR(S): Turner-TW; Tyrrell-MJ; Kakadekar-AP
ADDRESS OF AUTHOR: Department of Pediatrics, University of Saskatchewan, Saskatoon, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Cardiol-Young. 1999 Jan; 9(1): 97-8
INTERNATIONAL STANDARD SERIAL NUMBER: 1047-9511
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
MINOR MESH HEADINGS: Acute-Disease; Contrast-Media-administration-and-dosage; Heart-Catheterization; Infant-; Iopamidol-administration-and-dosage
MAJOR MeSH HEADINGS: *Aneurysm,-Dissecting-etiology; *Aortic-Rupture-etiology; *Aortography-adverse-effects; *Extravasation-of-Diagnostic-and-Therapeutic-Materials-complications; *Williams-Syndrome-radiography
CHECKTAGS: Case-Report; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 62883-00-5
NAME OF SUBSTANCE: Contrast-Media; Iopamidol
MEDLINE ACCESSION NUMBER: 99255130
UPDATE CODE: 199909
Record 80 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis in Williams' syndrome.
AUTHOR(S): Kim-YM; Yoo-SJ; Choi-JY; Kim-SH; Bae-EJ; Lee-YT
ADDRESS OF AUTHOR: Department of Radiology, Sejong Heart Institute, Korea.
SOURCE (BIBLIOGRAPHIC CITATION): Cardiol-Young. 1999 Jan; 9(1): 37-41
INTERNATIONAL STANDARD SERIAL NUMBER: 1047-9511
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: We investigated the catheterization and angiographic findings of 26 patients with Williams' syndrome to evaluate the natural course of supravalvar aortic stenosis and peripheral pulmonary arterial stenosis. The severity of the stenosis was correlated with age and body surface area in terms of the pulmonary arterial index, right ventricular systolic pressure, sinutubular ratio (ratio of measured to mean normal diameter of sinutubular junction), and systolic pressure gradient across the sinutubular junction. In patients with pulmonary arterial stenosis (n=20), right ventricular systolic pressure tended to decrease, and pulmonary arterial index increased, with increase in age and body surface area. Between the groups with and without pulmonary arterial stenosis, there was significant difference in age (mean 4.70 vs. 9.87, p=0.019), body surface area (0.62 vs. 1.16, p=0.002), pulmonary arterial index (152 vs. 317, p=0.002) and right ventricular systolic pressure (73.9 vs. 33.0, p=0.006). As all patients showed similar diameters at the sinutubular junction regardless of age and body size, sinutubular ratio decreased with increases in age and body surface area. The group with abnormal coronary arteries (n=7) had smaller sinutubular ratio (0.46 vs. 0.61, p=0.021) and higher pressure gradients between the left ventricle and the aorta (67.6 vs. 42.2, p=0.023) than did the group with normal coronary arteries. Stenosis of a coronary artery, or a branch of the aortic arch, was observed only in three patients with diffuse aortic stenosis. Our results suggest that, with time, peripheral pulmonary arterial stenosis tends to improve, and supravalvar aortic stenosis to progress. Failure of growth of the sinutubular junction might be responsible for the progression of the aortic lesion. Progression of the aortic lesion may be associated with involvement of the coronary arteries.
MINOR MESH HEADINGS: Adolescence-; Age-Factors; Aortic-Valve-Stenosis-diagnosis; Aortic-Valve-Stenosis-physiopathology; Aortography-; Arterial-Occlusive-Diseases-physiopathology; Child-; Child,-Preschool; Cross-Sectional-Studies; Disease-Progression; Heart-Catheterization; Infant-; Prognosis-; Pulmonary-Artery-physiopathology; Retrospective-Studies; Severity-of-Illness-Index; Statistics,-Nonparametric; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Arterial-Occlusive-Diseases-diagnosis; *Pulmonary-Artery-pathology; *Williams-Syndrome-diagnosis
CHECKTAGS: Comparative-Study; Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99255115
UPDATE CODE: 199909
Record 81 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Early puberty in Williams syndrome.
AUTHOR(S): Cherniske-EM; Sadler-LS; Schwartz-D; Carpenter-TO; Pober-BR
ADDRESS OF AUTHOR: Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA. elizabeth.cherniske@yale.edu
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Dysmorphol. 1999 Apr; 8(2): 117-21
INTERNATIONAL STANDARD SERIAL NUMBER: 0962-8827
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Pubertal development was evaluated in nine males and 16 females with Williams syndrome (WS). Our results indicate that puberty in WS occurred earlier than in published population controls; specifically, 90% of menstruating females reached menarche and 83% of pubertal males showed Tanner III pubic hair development prior to the age of 12 years. The sequence of pubertal development was normal, bone age was always consistent with, or in excess of, chronological age, and there was evidence of central (hypothalamic-pituitary mediated) activation as the cause of early puberty in a subset of subjects.
MINOR MESH HEADINGS: Age-of-Onset; Bone-and-Bones-physiopathology; Child-
MAJOR MeSH HEADINGS: *Puberty,-Precocious-physiopathology; *Williams-Syndrome-physiopathology
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99252758
UPDATE CODE: 199909
Record 82 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.
AUTHOR(S): DeSilva-U; Massa-H; Trask-BJ; Green-ED
ADDRESS OF AUTHOR: Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genome-Res. 1999 May; 9(5): 428-36
INTERNATIONAL STANDARD SERIAL NUMBER: 1088-9051
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.
MINOR MESH HEADINGS: Contig-Mapping-methods; In-Situ-Hybridization,-Fluorescence; Mice-
MAJOR MeSH HEADINGS: *Chromosome-Deletion; *Chromosome-Mapping-methods; *Chromosomes,-Human,-Pair-7-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Comparative-Study; Human; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: GM57070GMNIGMS
MEDLINE ACCESSION NUMBER: 99263229
UPDATE CODE: 199908
Record 83 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Continuing education in neurometabolic disorders--serine deficiency disorders.
AUTHOR(S): de-Koning-TJ; Poll-The-BT; Jaeken-J
ADDRESS OF AUTHOR: Department of Metabolic Diseases, University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
SOURCE (BIBLIOGRAPHIC CITATION): Neuropediatrics. 1999 Feb; 30(1): 1-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0174-304X
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Serine deficiency disorders comprise a new group of inborn errors of serine metabolism. Patients affected with these disorders present with major neurological symptoms including congenital microcephaly, seizures, psychomotor retardation or polyneuropathy. The diagnosis of serine deficiency is based on the detection of low concentrations of the amino acids serine and glycine in fasted plasma and cerebrospinal fluid (CSF). Amino acid analysis of cerebrospinal fluid is preferable over plasma analysis, because the deficiencies are more pronounced in CSF. Because of the interference of amino acids absorbed from the diet, diagnostic procedures have to be performed in the fasted state. Although the disorders are probably rare and not many cases have been reported, recognition of serine deficiency is important, given the fact that the disorders are potentially treatable. The clinical symptoms respond well to amino acid replacement therapy. So far, three serine deficiency disorders have been reported; 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency and a still unexplained serine deficiency disorder. In this paper, we will discuss the various serine deficiency disorders, their biochemical abnormalities and the results of amino acid replacement therapy.
MINOR MESH HEADINGS: Adolescence-; Amino-Acids-blood; Amino-Acids-cerebrospinal-fluid; Child-; Deficiency-Diseases-diet-therapy; Glycine-therapeutic-use; Ichthyosis-etiology; Metabolism,-Inborn-Errors-genetics; Microcephaly-etiology; Serine-cerebrospinal-fluid; Serine-therapeutic-use; Spasms,-Infantile-etiology; Williams-Syndrome-metabolism
MAJOR MeSH HEADINGS: *Deficiency-Diseases-diagnosis; *Metabolism,-Inborn-Errors-diagnosis; *Serine-deficiency
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 0; 56-40-6; 56-45-1
NAME OF SUBSTANCE: Amino-Acids; Glycine; Serine
MEDLINE ACCESSION NUMBER: 99238958
UPDATE CODE: 199908
Record 84 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: LIM-kinase1.
AUTHOR(S): Stanyon-CA; Bernard-O
ADDRESS OF AUTHOR: Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Australia.
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Biochem-Cell-Biol. 1999 Mar-Apr; 31(3-4): 389-94
INTERNATIONAL STANDARD SERIAL NUMBER: 1357-2725
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: LIM-kinase1 (LIMK1) is a serine-only protein kinase that contains LIM and PDZ protein-protein interaction domains which is highly expressed in neurons. Overexpression of LIMK1 in cultured cells results in accumulation of filamentous (F-) actin. LIMK1 phosphorylates cofilin, an actin depolymerisation factor, which is then unable to bind and depolymerise F-actin. Rac-GTP enhances phosphorylation of LIMK1 and cofilin, which leads to accumulation of F-actin, while Rac-GDP and PMA reduce these effects. LIMK1 is therefore a key component of a signal transduction network that connects extracellular stimuli to changes in cytoskeletal structure. Control of cell morphology and mobility via LIMK1 activity may provide novel approaches to cancer therapy.
MINOR MESH HEADINGS: Models,-Biological; Protein-Kinases-metabolism; Protein-Kinases-physiology; Tissue-Distribution; Williams-Syndrome-metabolism
MAJOR MeSH HEADINGS: *Protein-Kinases-chemistry
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.1.-; EC 2.7.1.37
NAME OF SUBSTANCE: LIM-kinase; Protein-Kinases
MEDLINE ACCESSION NUMBER: 99241176
UPDATE CODE: 199908
Record 85 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Refining behavioral phenotypes: personality-motivation in Williams and Prader-Willi syndromes.
AUTHOR(S): Dykens-EM; Rosner-BA
ADDRESS OF AUTHOR: University of California, Los Angeles, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Ment-Retard. 1999 Mar; 104(2): 158-69
INTERNATIONAL STANDARD SERIAL NUMBER: 0895-8017
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Despite behavioral differences, individuals with Williams or Prader-Willi syndrome share a proneness to certain personality characteristics. We hypothesized that there are qualitative differences in these shared personality features. Personality-motivation (measured using the Reiss Profiles) was compared for equal numbers of age- and gender-matched individuals with Williams or Prader-Willi syndrome or mental retardation due to nonspecific causes. Each syndrome featured aberrant motivational profiles, and similarities were found across groups in various domains. Significant differences emerged in the specific stimuli that motivated behavior in several Reiss Profile domains. Implications are discussed for the "classic" sociable personality in Williams syndrome and for compulsivity in Prader-Willi syndrome. Recommendations are made for treatment and more refined phenotypic research.
MINOR MESH HEADINGS: Adolescence-; Adult-; Analysis-of-Variance; Diagnosis,-Differential; Genetics,-Behavioral; Mental-Retardation-psychology; Phenotype-; Prader-Willi-Syndrome-diagnosis; Psychological-Tests; Syndrome-; Williams-Syndrome-diagnosis
MAJOR MeSH HEADINGS: *Motivation-; *Personality-Development; *Prader-Willi-Syndrome-psychology; *Williams-Syndrome-psychology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: CLINICAL-TRIAL; JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: R0135684; 03008
MEDLINE ACCESSION NUMBER: 99223986
UPDATE CODE: 199908
Record 86 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams-Beuren syndrome: an update and review for the primary physician.
AUTHOR(S): Lashkari-A; Smith-AK; Graham-JM Jr
ADDRESS OF AUTHOR: Steven Spielberg Pediatric Research Center, Ahmanson Pediatric Center, UCLA School of Medicine.
SOURCE (BIBLIOGRAPHIC CITATION): Clin-Pediatr-Phila. 1999 Apr; 38(4): 189-208
INTERNATIONAL STANDARD SERIAL NUMBER: 0009-9228
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome is an autosomal dominant disorder resulting from a submicroscopic deletion of contiguous genes on the long arm of chromosome 7. It consists of a variety of hallmark physical features, which include distinctive facial characteristics, cardiac anomalies (of which the most common is supravalvular aortic stenosis), and occasional idiopathic hypercalcemia. The condition also includes a unique cognitive profile, with relative sparing of language and facial recognition skills against a background of mental retardation. This paper reviews the early history and clinical experience with this syndrome, how it unfolds from infancy through adulthood, and how it manifests in different organ systems. Evidence-based recommendations are then offered for the treatment of the specific developmental and medical issues that arise in patients with Williams syndrome.
MINOR MESH HEADINGS: Adolescence-; Cardiovascular-Diseases-complications; Child-; Child,-Preschool; Craniofacial-Abnormalities-complications; Family-Practice; Gastrointestinal-Diseases-complications; Infant-; Urogenital-Diseases-complications; Williams-Syndrome-genetics; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Williams-Syndrome-diagnosis
CHECKTAGS: Female; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW-LITERATURE
CONTRACT OR GRANT NUMBERS: HD2265711HDNICHD; GM08243GMNIGMS
MEDLINE ACCESSION NUMBER: 99258025
UPDATE CODE: 199907
SUBSET: AIM
Record 87 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Elastin: molecular description and function.
AUTHOR(S): Debelle-L; Tamburro-AM
ADDRESS OF AUTHOR: Department of Chemistry, University of Basilicata, Potenza, Italy.
SOURCE (BIBLIOGRAPHIC CITATION): Int-J-Biochem-Cell-Biol. 1999 Feb; 31(2): 261-72
INTERNATIONAL STANDARD SERIAL NUMBER: 1357-2725
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: ENGLAND
ABSTRACT: Elastin, the protein responsible for the elastic properties of vertebrate tissues, has been thought to be solely restricted to that role. As a consequence, elastin was conventionally described as an amorphous polymer. Recent results in the biomedical, biochemical and biophysical fields have lead to the conclusion that the presence of elastin in the extracellular space has very complex implications involving many other molecules. The present review describes the current state of knowledge concerning elastin as an elastic macromolecule. First, the genetic, biological, biochemical and biophysical processes leading to a functional polymer are described. Second, the elastic function of elastin is discussed. The controversy on elastin structure and elasticity is discussed and a novel dynamic mechanism of elasticity proposed. Finally, pathologies where the elastin molecule is involved are considered. This updated description of functional elastin provides the required background for the understanding of its pathologies and defines clearly the properties a substance should possess to be qualified as a good elastic biomaterial.
MINOR MESH HEADINGS: Aortic-Valve-Stenosis-physiopathology; Cutis-Laxa-physiopathology; Elastic-Tissue-pathology; Elastin-genetics; Skin-Diseases-physiopathology; Structure-Activity-Relationship; Williams-Syndrome-physiopathology
MAJOR MeSH HEADINGS: *Elastin-chemistry; *Elastin-metabolism
CHECKTAGS: Animal; Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 99232605
UPDATE CODE: 199907
Record 88 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism [letter]
AUTHOR(S): Kara-Mostefa-A; Raoul-O; Lyonnet-S; Amiel-J; Munnich-A; Vekemans-M; Magnier-S; Ossareh-B; Bonnefont-JP
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 May; 64(5): 1475-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Adult-; Child-; Crossing-Over-Genetics; Elastin-genetics; Genetic-Markers-genetics; Genotype-; Haplotypes-; Infant-; Pedigree-
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7-genetics; *Gene-Deletion; *Germ-Line-Mutation-genetics; *Mosaicism-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Female; Human; Male
PUBLICATION TYPE: LETTER
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Genetic-Markers; Elastin
MEDLINE ACCESSION NUMBER: 99223445
UPDATE CODE: 199907
Record 89 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Cognitive dissection of Williams syndrome [letter; comment]
COMMENTS: Comment on: Am J Med Genet 1997 Sep 19;74(5):521-5
AUTHOR(S): Wang-PP
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Med-Genet. 1999 Feb 5; 88(1): 103-4
INTERNATIONAL STANDARD SERIAL NUMBER: 0148-7299
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Language-Tests; Neuropsychological-Tests; Phenotype-
MAJOR MeSH HEADINGS: *Cognition-; *Williams-Syndrome-diagnosis; *Williams-Syndrome-genetics
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 99158264
UPDATE CODE: 199907
Record 90 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition? [letter; comment]
COMMENTS: Comment on: Neurology 1998 Jul;51(1):33-40
AUTHOR(S): Chang-L; Ernst-T; Berman-N
SOURCE (BIBLIOGRAPHIC CITATION): Neurology. 1999 Mar 10; 52(4): 898-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0028-3878
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Cerebellum-chemistry; Williams-Syndrome-metabolism
MAJOR MeSH HEADINGS: *Brain-Chemistry; *Cerebellum-physiology; *Cognition-physiology; *Williams-Syndrome-physiopathology
CHECKTAGS: Human
PUBLICATION TYPE: COMMENT; LETTER
MEDLINE ACCESSION NUMBER: 99176653
UPDATE CODE: 199907
SUBSET: AIM
Record 91 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
AUTHOR(S): Osborne-LR; Campbell-T; Daradich-A; Scherer-SW; Tsui-LC
ADDRESS OF AUTHOR: Department of Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada. lucy@genet.sickkids.on.ca
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1999 Apr 15; 57(2): 279-84
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Williams-Beuren syndrome (WBS) is a complex developmental disorder involving the hemizygous deletion of genes on chromosome 7q11.23. The cardiovascular aspects of the disorder are known to be caused by haploinsufficiency for ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to reside within the WBS deletion, and here we report the identification and cloning of an additional gene that is commonly deleted. WBSCR11, which was identified through genomic DNA sequence analysis and cDNA library screening, was positioned toward the telomeric end of the WBS deletion. The gene is expressed in all adult tissues analyzed, including many regions of the brain. The predicted protein displays homology to another gene from the WBS deletion, GTF2I, which is known to be a transcription factor. We postulate that WBSCR11 is also a transcription factor and may contribute to the spectrum of developmental symptoms found in WBS. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Blotting,-Northern; Chromosomes,-Human,-Pair-7-genetics; DNA-chemistry; DNA-genetics; Exons-; Gene-Deletion; Genes,-Structural-genetics; Introns-; Molecular-Sequence-Data; RNA,-Messenger-genetics; RNA,-Messenger-metabolism; Tissue-Distribution
MAJOR MeSH HEADINGS: *Transcription-Factors-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 9007-49-2
NAME OF SUBSTANCE: RNA,-Messenger; Transcription-Factors; DNA
MEDLINE ACCESSION NUMBER: 99216421
UPDATE CODE: 199907
SECONDARY SOURCE IDENTIFIER: GENBANK/AF104923
Record 92 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Characterization and expression pattern of the frizzled gene Fzd9, the mouse homolog of FZD9 which is deleted in Williams-Beuren syndrome.
AUTHOR(S): Wang-YK; Sporle-R; Paperna-T; Schughart-K; Francke-U
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California 94305, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Genomics. 1999 Apr 15; 57(2): 235-48
INTERNATIONAL STANDARD SERIAL NUMBER: 0888-7543
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: The frizzled gene family is conserved from insects to mammals and codes for putative Wnt receptors that share a cysteine-rich extracellular domain and seven transmembrane domains. We previously identified a novel frizzled gene, FZD3, now renamed FZD9, in the Williams-Beuren syndrome (WBS) deletion region at chromosomal band 7q11.23 and showed that its product can interact with the Drosophila wingless protein. Here, we report the characterization of the mouse homolog Fzd9. The Fzd9 gene produces a 2.4-kb transcript encoding a 592-amino-acid protein with 95% identity to the human FZD9. Fzd9 was mapped to the conserved syntenic region on distal mouse chromosome 5. By RNA in situ hybridization studies of whole-mount embryos and sections we delineated the temporal and spatial expression patterns in the neural tube, trunk skeletal muscle precursors (myotomes), limb skeletal anlagen, craniofacial regions, and nephric ducts. In adult mouse tissue, the Fzd9 transcript is abundantly present in heart, brain, testis, and skeletal muscle. In testis, Fzd9 is expressed in all spermatogenic cell types. Immunohistochemical studies of cells transfected with a Fzd9 expression construct confirm that Fzd9 is a membrane protein. These results suggest potential Wnt ligands of Fzd9, a role of Fzd9 in skeletal muscle specification, and contributions of FZD9 to the WBS phenotype. Copyright 1999 Academic Press.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Blotting,-Northern; Cell-Membrane-immunology; Cell-Membrane-metabolism; Chromosome-Mapping; DNA,-Complementary-chemistry; DNA,-Complementary-genetics; Embryo-metabolism; Gene-Deletion; Gene-Expression; Gene-Expression-Regulation,-Developmental; In-Situ-Hybridization; Mice-; Molecular-Sequence-Data; Nervous-System-embryology; Nervous-System-metabolism; Receptors,-Cell-Surface-immunology; RNA,-Messenger-genetics; RNA,-Messenger-metabolism; Sequence-Alignment; Sequence-Analysis,-DNA; Sequence-Homology,-Amino-Acid; Somites-metabolism; Testis-embryology; Testis-metabolism; Tissue-Distribution
MAJOR MeSH HEADINGS: *Receptors,-Cell-Surface-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Animal; Comparative-Study; Human; Male; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: HD33505HDNICHD
CAS REGISTRY NUMBER OR EC NUMBER: 0; 0; 0; 0
NAME OF SUBSTANCE: DNA,-Complementary; FZD3-protein; Receptors,-Cell-Surface; RNA,-Messenger
MEDLINE ACCESSION NUMBER: 99216417
UPDATE CODE: 199907
SECONDARY SOURCE IDENTIFIER: GENBANK/AF088850
Record 93 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: The molecular basis of vascular disorders.
AUTHOR(S): Towbin-JA; Casey-B; Belmont-J
ADDRESS OF AUTHOR: Baylor College of Medicine, Department of Pediatric Cardiology, One Baylor Plaza, Houston, Texas 77030, USA jtowbin@bcm.tmc.edu
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Mar; 64(3): 678-84
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
MINOR MESH HEADINGS: Alagille-Syndrome-genetics; Aorta-abnormalities; Aortic-Valve-Stenosis-genetics; Blood-Vessels-abnormalities; Blood-Vessels-embryology; Blood-Vessels-metabolism; DiGeorge-Syndrome-genetics; Ehlers-Danlos-Syndrome-genetics; Hypoplastic-Left-Heart-Syndrome-genetics; Marfan-Syndrome-genetics; Mice-; Models,-Biological; Mutation-; Pulmonary-Artery-abnormalities; Williams-Syndrome-genetics; Zebrafish-
MAJOR MeSH HEADINGS: *Cardiovascular-Abnormalities-genetics; *Vascular-Diseases-embryology
CHECKTAGS: Animal; Human
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
MEDLINE ACCESSION NUMBER: 99162188
UPDATE CODE: 199906
Record 94 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Elastin mutation and cardiac disease.
AUTHOR(S): Chowdhury-T; Reardon-W
ADDRESS OF AUTHOR: Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, 30, Guilford Street, London WC1N 1EH, United Kingdom.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Cardiol. 1999 Mar-Apr; 20(2): 103-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0172-0643
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention with medical therapy. This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.
MINOR MESH HEADINGS: Child-; Chromosomes,-Human,-Pair-7; DNA-Mutational-Analysis; Infant-; Phenotype-
MAJOR MeSH HEADINGS: *Aortic-Valve-Stenosis-genetics; *Elastin-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
CAS REGISTRY NUMBER OR EC NUMBER: 9007-58-3
NAME OF SUBSTANCE: Elastin
MEDLINE ACCESSION NUMBER: 99143313
UPDATE CODE: 199906
Record 95 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Observer reliability in grading nephrocalcinosis on ultrasound examinations in children.
AUTHOR(S): Dick-PT; Shuckett-BM; Tang-B; Daneman-A; Kooh-SW
ADDRESS OF AUTHOR: Paediatric Research Outcomes Team, Division of Paediatric Medicine, The Hospital for Sick Children, University of Toronto 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.
SOURCE (BIBLIOGRAPHIC CITATION): Pediatr-Radiol. 1999 Jan; 29(1): 68-72
INTERNATIONAL STANDARD SERIAL NUMBER: 0301-0449
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: BACKGROUND: Nephrocalcinosis is often associated with a variety of hypercalcemic conditions. Diagnostic ultrasound is often used for assessing nephrocalcinosis in children, but its reliability has not been proven. OBJECTIVE: To determine the reliability of expert interpretation of sonographic films with a grading scale of severity for nephrocalcinosis. MATERIALS AND METHODS: Fifty-eight ultrasonographic films of 30 children with Williams syndrome and other conditions know to be associated with nephrocalcinosis were assessed. We used a blinded randomized design to assess intra- and interobserver reliability. RESULTS: Grades I, II, and III nephrocalcinosis were noted in 13 %, 19 %, and 27 % of the examinations, respectively. The weighted kappa coefficient was 0.80 (standard error 0.12; 95 % confidence interval 0.68-0.92) for intraobserver agreement and 0.76 (standard error 0.13; 95 % confidence interval 0.63 to 0.89) for interobserver agreement. Reliability in assessing change from one examination to the next, with independently graded films, was fair with an unweighted kappa coefficient of 0.68 (95 % confidence interval 0.38-0.96) and 0.51 (95 % confidence interval 0.21-0.80) for intra- and interobserver reliability, respectively. CONCLUSION: The severity of nephrocalcinosis can be reliably interpreted with an ultrasonography grading scale.
MINOR MESH HEADINGS: Child-; Child,-Preschool; Follow-Up-Studies; Infant-; Nephrocalcinosis-complications; Observer-Variation; Reproducibility-of-Results; Retrospective-Studies; Severity-of-Illness-Index; Williams-Syndrome-complications
MAJOR MeSH HEADINGS: *Nephrocalcinosis-ultrasonography
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99099121
UPDATE CODE: 199905
Record 96 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
AUTHOR(S): Tassabehji-M; Metcalfe-K; Karmiloff-Smith-A; Carette-MJ; Grant-J; Dennis-N; Reardon-W; Splitt-M; Read-AP; Donnai-D
ADDRESS OF AUTHOR: University Department of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom. tassabehji@man.ac.uk.
SOURCE (BIBLIOGRAPHIC CITATION): Am-J-Hum-Genet. 1999 Jan; 64(1): 118-25
INTERNATIONAL STANDARD SERIAL NUMBER: 0002-9297
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: In Williams syndrome (WS), a deletion of approximately 1.5 Mb on one copy of chromosome 7 causes specific physical, cognitive, and behavioral abnormalities. Molecular dissection of the phenotype may be a route to identification of genes important in human cognition and behavior. Among the genes known to be deleted in WS are ELN (which encodes elastin), LIMK1 (which encodes a protein tyrosine kinase expressed in the developing brain), STX1A (which encodes a component of the synaptic apparatus), and FZD3. Study of patients with deletions or mutations confined to ELN showed that hemizygosity for elastin is responsible for the cardiological features of WS. LIMK1 and STX1A are good candidates for cognitive or behavioral aspects of WS. Here we describe genetic and psychometric testing of patients who have small deletions within the WS critical region. Our results suggest that neither LIMK1 hemizygosity (contrary to a previous report) nor STX1A hemizygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes.
MINOR MESH HEADINGS: Adult-; Antigens,-Surface-genetics; Child-; Chromosome-Mapping; DNA-Binding-Proteins-genetics; Elastin-genetics; In-Situ-Hybridization,-Fluorescence; Middle-Age; Nerve-Tissue-Proteins-genetics; Phenotype-; Polymerase-Chain-Reaction; Protein-Serine-Threonine-Kinases-genetics; Receptors,-Cell-Surface-genetics; Sequence-Deletion; Spatial-Behavior; Visual-Perception; Williams-Syndrome-physiopathology; Zinc-Fingers-genetics
MAJOR MeSH HEADINGS: *Chromosomes,-Human,-Pair-7; *Intelligence-genetics; *Williams-Syndrome-genetics
CHECKTAGS: Case-Report; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: EC 2.7.10; 0; 0; 0; 0; 0; 0; 147338-67-8; 9007-58-3
NAME OF SUBSTANCE: Protein-Serine-Threonine-Kinases; Antigens,-Surface; DNA-Binding-Proteins; FZD3-protein; Kiz-1-protein; Nerve-Tissue-Proteins; Receptors,-Cell-Surface; HPC-1-antigen,-rat; Elastin
MEDLINE ACCESSION NUMBER: 99115088
UPDATE CODE: 199905
Record 97 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Surgical angioplasty of the main coronary arteries in children.
AUTHOR(S): Bonnet-D; Bonhoeffer-P; Sidi-D; Kachaner-J; Acar-P; Villain-E; Vouhe-PR
ADDRESS OF AUTHOR: Service de Cardiologie Pediatrique, Hopital Necker/Enfants Malades, Paris, France.
SOURCE (BIBLIOGRAPHIC CITATION): J-Thorac-Cardiovasc-Surg. 1999 Feb; 117(2): 352-7
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-5223
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVE: To determine the safety and efficacy of surgical angioplasty of the coronary arteries in children. METHODS: We performed 9 surgical reconstructions of the left main coronary artery and 1 of the right coronary artery ostium in 10 children (mean age 5.7 years; range 2 months-15 years). The basic diseases included the following: congenital atresia of the left coronary artery (n = 2) and atresia of the right coronary artery in a patient with an aortoventricular tunnel (n = 1); stenosis of the left main coronary artery (1) in a patient with Williams syndrome (n = 1), (2) in a patient with familial hypercholesterolemia (n = 1), (3) after the arterial switch operation for transposition of the great arteries (n = 3), (4) after reimplantation of an anomalous left main coronary artery from the pulmonary artery (n = 1), and (5) by compression after a reparation a l'etage ventriculaire procedure (n = 1). Myocardial viability was assessed by single photon emission computed tomography (thallium 201; 7/10). The coronary artery stem was enlarged with a saphenous (n = 5), a pericardial (n = 4), or a polytetrafluoroethylene patch (n = 1). RESULTS: There was 1 hospital death and 9 patients are alive (mean follow-up 46 +/- 30 months; range 12 months to 10.5 years). Eight of 9 survivors had a selective coronary artery angiogram and had normal coronary artery ostia. Two patients had stenosis of the left anterior descending coronary artery, 1 of whom underwent successful internal thoracic artery grafting. CONCLUSIONS: Surgical angioplasty of the coronary stems restores physiologic coronary perfusion and conserves bypass material. It can be performed safely in children and provides encouraging midterm results.
MINOR MESH HEADINGS: Adolescence-; Child-; Child,-Preschool; Coronary-Disease-congenital; Coronary-Disease-mortality; Coronary-Disease-surgery; Coronary-Vessel-Anomalies-mortality; Coronary-Vessel-Anomalies-surgery; Follow-Up-Studies; Hospital-Mortality; Infant-; Pericardium-transplantation; Saphenous-Vein-transplantation; Surgical-Mesh
MAJOR MeSH HEADINGS: *Angioplasty-methods; *Coronary-Vessels-surgery
CHECKTAGS: Human
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99119476
UPDATE CODE: 199904
SUBSET: AIM
Record 98 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome.
AUTHOR(S): Partsch-CJ; Dreyer-G; Gosch-A; Winter-M; Schneppenheim-R; Wessel-A; Pankau-R
ADDRESS OF AUTHOR: Department of Pediatrics, Christian-Albrechts-University, Kiel, Germany.
SOURCE (BIBLIOGRAPHIC CITATION): J-Pediatr. 1999 Jan; 134(1): 82-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0022-3476
PUBLICATION YEAR: 1999
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: UNITED-STATES
ABSTRACT: OBJECTIVES: To establish syndrome-specific growth curves and growth rate (GR) curves for Williams syndrome (WS) and define the pattern of bone maturation and pubertal development. METHODS: In a prospective longitudinal study between 1990 and 1997, the growth data of 244 children with WS were collected: 295 values for GR were calculated for 74 girls and 331 values for 89 boys. RESULTS: Mean GR of children with WS was below normal by 1 to 2 cm/y in the first few years of life. One group of girls (n = 20) experienced an early pubertal growth spurt at age 9 years (maximal GR, 7.8 +/- 2.1 cm/y; menarcheal age, 10.4 +/- 1.4 years). A second group (n = 5) showed the growth spurt at age 11 years (7.5 +/- 1.1 cm/y; menarcheal age, 12.6 +/- 1.3 years). In boys, peak height velocity (8.7 +/- 2.3 cm/y) occurred at age 11 to 12 years. Bone age was delayed in both sexes during childhood and accelerated markedly during puberty. Final height was 152.4 +/- 5.7 cm in girls (n = 38) and 165.2 +/- 10. 9 cm in boys (n = 43). CONCLUSIONS: The syndrome-specific GR curves for WS showed a premature and abbreviated pubertal growth spurt in both sexes. This growth spurt was directly related to bone age acceleration during puberty. The data from this longitudinal study provide an overview of both the dynamics of growth and its course in children with WS.
MINOR MESH HEADINGS: Body-Height; Infant,-Newborn; Longitudinal-Studies; Reference-Values
MAJOR MeSH HEADINGS: *Bone-Development; *Growth-; *Puberty-; *Williams-Syndrome-physiopathology
CHECKTAGS: Comparative-Study; Female; Human; Male; Support,-Non-U.S.-Gov't
PUBLICATION TYPE: JOURNAL-ARTICLE
MEDLINE ACCESSION NUMBER: 99096986
UPDATE CODE: 199904
SUBSET: AIM
Record 99 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes.
AUTHOR(S): Meng-X; Lu-X; Li-Z; Green-ED; Massa-H; Trask-BJ; Morris-CA; Keating-MT
ADDRESS OF AUTHOR: Howard Hughes Medical Institute, University of Utah, Salt Lake City 84112, USA.
SOURCE (BIBLIOGRAPHIC CITATION): Hum-Genet. 1998 Nov; 103(5): 590-9
INTERNATIONAL STANDARD SERIAL NUMBER: 0340-6717
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: ENGLISH
COUNTRY OF PUBLICATION: GERMANY
ABSTRACT: Williams syndrome (WS) is a contiguous gene deletion disorder caused by haploinsufficiency of genes at 7q11.23. We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). We have also implicated LIM-kinase 1 hemizygosity as a contributing factor to impaired visual-spatial constructive cognition in WS. However, the common WS deletion region has not been completely characterized, and genes for additional features of WS, including mental retardation, infantile hypercalcemia, and unique personality profile, are yet to be discovered. Here, we present a physical map encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Fluorescence in situ hybridization analysis of 200 WS individuals shows that WS individuals have the consistent deletion interval. In addition, we identify three novel genes from the common deletion region: WS-betaTRP, WS-bHLH, and BCL7B. WS-betaTRP has four putative beta-transducin (WD40) repeats, and WS-bHLH is a novel basic helix-loop-helix leucine zipper (bHLHZip) gene. BCL7B belongs to a novel family of highly conserved genes. We describe the expression profile and genomic structure for each of these genes. Hemizygous deletion of one or more of these genes may contribute to developmental defects in WS.
MINOR MESH HEADINGS: Amino-Acid-Sequence; Base-Sequence; Chromosomes,-Human,-Pair-7-genetics; DNA-Mutational-Analysis; Elastin-genetics; Helix-Loop-Helix-Motifs-genetics; In-Situ-Hybridization,-Fluorescence; Microsatellite-Repeats-genetics; Molecular-Sequence-Data; Sequence-Alignment; Sequence-Analysis,-DNA; Transducin-genetics
MAJOR MeSH HEADINGS: *DNA-Probes-genetics; *DNA-Binding-Proteins-genetics; *Gene-Deletion; *Membrane-Proteins-genetics; *Physical-Chromosome-Mapping; *Williams-Syndrome-genetics
CHECKTAGS: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PUBLICATION TYPE: JOURNAL-ARTICLE
CONTRACT OR GRANT NUMBERS: R01HD29957HDNICHD; R01NS3510201NSNINDS; M01RR0064RRNCRR
CAS REGISTRY NUMBER OR EC NUMBER: EC 3.6.1.-; 0; 0; 0; 0; 0; 0; 9007-58-3
NAME OF SUBSTANCE: Transducin; BCL7B-protein; DNA-Probes; DNA-Binding-Proteins; Membrane-Proteins; WS-bHLH-protein; WS-BTRP-protein; Elastin
MEDLINE ACCESSION NUMBER: 99075645
UPDATE CODE: 199903
SECONDARY SOURCE IDENTIFIER: GENBANK/AF056183; GENBANK/AF056184
Record 100 of 329 in MEDLINE EXPRESS (R) 1997-1999
TITLE: [Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases]
ORIGINAL TITLE: Cardiopathie congenitale et clarte nucale avec caryotype normal. A propos de 3 cas.
AUTHOR(S): Gicquel-JM; Potier-A; Camillieri-JF; Grinneiser-D; Rouault-F
ADDRESS OF AUTHOR: Centre Hospitalier, Draguignan.
SOURCE (BIBLIOGRAPHIC CITATION): J-Gynecol-Obstet-Biol-Reprod-Paris. 1998 Oct; 27(6): 625-8
INTERNATIONAL STANDARD SERIAL NUMBER: 0368-2315
PUBLICATION YEAR: 1998
LANGUAGE OF ARTICLE: FRENCH; NON-ENGLISH
COUNTRY OF PUBLICATION: FRANCE
ABSTRACT: We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.
MINOR MESH HEADINGS: Cardiomegaly-genetics; Cardiomegaly-ultrasonography; Elastin-genetics; English-Abstract; Fetal-Proteins-genetics; Karyotyping-; Mutation-; Neck-ultrasonography; Pregnancy-; Pregnancy-Trimester,-First; Ultrasonography,-Prenatal; Williams-Syndrome-genetics; Williams-Syndrome-ultrasonography
MAJOR MeSH HEADINGS: *Cardiomegaly-congenital; *Neck-embryology; *Williams-Syndrome-congenital
CHECKTAGS: Case-Report; English-Abstract; Female; Human
PUBLICATION TYPE: JOURNAL-ARTICLE
CAS REGISTRY NUMBER OR EC NUMBER: 0; 9007-58-3
NAME OF SUBSTANCE: Fetal-Proteins; Elastin
MEDLINE ACCESSION NUMBER: 99071392
UPDATE CODE: 199903