Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.
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Introduction: Williams syndromeNeuraminidase-1, a subunit of the cell surface elastin receptor, desialylates and functionally inactivates adjacent receptors interacting with the mitogenic growth factors PDGF-BB and IGF-2Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growthNeurobiology of social behavior abnormalities in autism and Williams syndromeAssociation of mouse Dlg4 (PSD-95) gene deletion and human DLG4 gene variation with phenotypes relevant to autism spectrum disorders and Williams' syndromeA dual comparative approach: integrating lines of evidence from human evolutionary neuroanatomy and neurodevelopmental disordersAnterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature.Bridging the gene-behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes.Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.A FAMILY STUDY OF AORTIC STENOSIS.De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome.Williams-Beuren syndrome: an update and review for the primary physician.Williams syndrome.Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment.Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.High prevalence of diabetes and pre-diabetes in adults with Williams syndrome.Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countriesCongenital supravalvar aortic stenosis: a simple lesion?Williams syndrome: from genotype through to the cognitive phenotype.Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigeneticsAbnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content.Monogenic and chromosomal causes of isolated speech and language impairment.Echocardiographic findings in patients with Williams-Beuren syndrome.Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.Interventional strategies in the management of peripheral pulmonary artery stenosis.Williams syndrome: an update on clinical and molecular aspects.Alterations in diffusion properties of white matter in Williams syndrome.Hypothesis: etiology of atherosclerosis and osteoporosis: are imbalances in the calciferol endocrine system implicated?Williams syndrome associated with complete atrioventricular septal defect.LIMK1 and CLIP-115: linking cytoskeletal defects to Williams syndrome.Williams-Beuren Syndrome: A Case Confirmed by Array-CGH MethodInfective endocarditis in a patient with Williams' syndrome--case report.Dental management of patient with Williams Syndrome - A case report.Supravalvar aortic stenosis
P2860
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P2860
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.
description
1962 nî lūn-bûn
@nan
1962年の論文
@ja
1962年学术文章
@wuu
1962年学术文章
@zh
1962年学术文章
@zh-cn
1962年学术文章
@zh-hans
1962年学术文章
@zh-my
1962年学术文章
@zh-sg
1962年學術文章
@yue
1962年學術文章
@zh-hant
name
Supravalvular aortic stenosis ...... d a certain facial appearance.
@en
Supravalvular aortic stenosis ...... d a certain facial appearance.
@nl
type
label
Supravalvular aortic stenosis ...... d a certain facial appearance.
@en
Supravalvular aortic stenosis ...... d a certain facial appearance.
@nl
prefLabel
Supravalvular aortic stenosis ...... d a certain facial appearance.
@en
Supravalvular aortic stenosis ...... d a certain facial appearance.
@nl
P2093
P356
P1433
P1476
Supravalvular aortic stenosis ...... d a certain facial appearance.
@en
P2093
P304
P356
10.1161/01.CIR.26.6.1235
P407
P577
1962-12-01T00:00:00Z