Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
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Introduction: Williams syndromeMolecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthOf mice and men: molecular genetics of congenital heart diseaseAdaptive Behavior and Development of Infants and Toddlers with Williams Syndrome.Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.Spontaneous and cued gaze-following in autism and Williams syndrome.Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.Vascular wall extracellular matrix proteins and vascular diseasesWilliams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.Disorders caused by chromosome abnormalities.Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.FISH analysis of PTEN in endometrial carcinoma. Comparison with SNP arrays and MLPA.Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disordersBilateral burkitt lymphoma of the ovaries: a report of a case in a child with williams syndrome.Williams syndrome: an update on clinical and molecular aspects.[Microdeletion syndromes (Williams syndrome and deletion syndrome 22q11) at CHU Hassan II of Fez: report of 3 observations]Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiencyGenome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi ArabiaComplementation of the beige mutation in cultured cells by episomally replicating murine yeast artificial chromosomes.Hypercalcemia in Patients with Williams-Beuren Syndrome.Perspectives series: cell adhesion in vascular biology. Smooth muscle migration in atherosclerosis and restenosis.Decreased elastin in vessel walls puts the pressure on.Biliary hypoplasia in Williams syndrome.Williams syndrome and Ebstein's anomaly: A rare association.Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?A new clinical sign in Williams syndrome.Williams syndrome starts making sense.7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover.Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.Medical genetics: advances in brief: Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
P2860
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P2860
Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Strong correlation of elastin ...... e: evaluation of 235 patients.
@ast
Strong correlation of elastin ...... e: evaluation of 235 patients.
@en
Strong correlation of elastin ...... e: evaluation of 235 patients.
@nl
type
label
Strong correlation of elastin ...... e: evaluation of 235 patients.
@ast
Strong correlation of elastin ...... e: evaluation of 235 patients.
@en
Strong correlation of elastin ...... e: evaluation of 235 patients.
@nl
prefLabel
Strong correlation of elastin ...... e: evaluation of 235 patients.
@ast
Strong correlation of elastin ...... e: evaluation of 235 patients.
@en
Strong correlation of elastin ...... e: evaluation of 235 patients.
@nl
P2093
P2860
P1476
Strong correlation of elastin ...... me: evaluation of 235 patients
@en
P2093
A R Brothman
C A Morris
C O Leonard
L J Brothman
M C Lowery
P2860
P407
P577
1995-07-01T00:00:00Z