Williams syndrome: autosomal dominant inheritance.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  American journal of medical genetics

• Publication date

  1993-09-15

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/AJMG.1320470409PMID 8256809
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Williams syndrome in twins.

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• Adults with Williams syndrome.

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• Williams syndrome.

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• The Williams syndrome: objective definition and diagnosis

  1984cited by this paper
• [The genetic aspects of Williams-Beuren syndrome and the isolated form of the supravalvular aortic stenosis. Investigation of 128 families (author's transl)].

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• Familial Williams Syndrome

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• Supravalvular aortic stenosis in a twin.

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• Familial occurrence of the Williams syndrome.

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• The Williams elfin facies syndrome. A new perspective.

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• Possible dominant inheritance of the idiopathic hypercalcemic syndrome.

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• Letter: Brittle diabetes.

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• Supravalvular aortic stenosis. Unusual observations in three patients.

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• HYPERCALÆMIA AND SUPRAVALVAR AORTIC STENOSIS

  1967cited by this paper
• The spectrum of abnormalities in supravalvular aortic stenosis

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• Supravalvular aortic stenosis

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• Supravalvar aortic stenosis. Roentgen analysis of twenty-seven cases.

  1966cited by this paper
• Infantile hypercalcemia syndrome in twins.

  1966cited by this paper
• Supravalvular Aortic Stenosis

  1961cited by this paper

• Parallel deletion and duplication at 7q11.23 in a silent carrier for two reciprocal syndromic disorders

  2023cites this paper
• Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

  2023cites this paper
• Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil

  2022cites this paper
• Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome

  2022cites this paper
• Epigenetics and pervasive developmental disorders

  2021cites this paper
• Functional Neurological Symptom Disorder in Williams Syndrome: Case series and Review of Relevant Literature.

  2021cites this paper
• Williams syndrome

  2021cites this paper
• 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

  2020cites this paper
• Anesthetic Considerations for Patients With Williams Syndrome.

  2020cites this paper
• Oral conditions of pediatric patients with Williams-Beuren syndrome: two case reports

  2019cites this paper
• Cerebellar Characterization in Mouse Models of 7q11.23 Copy Number Variation Disorders

  2018cites this paper
• The other side of the coin: Hypersociability

  2018cites this paper
• Hypercalcemic Disorders in Children

  2017cites this paper
• Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia

  2016cites this paper
• LABIN – Um espaço para fortalecer relações entre serviços. Mais uma conquista para o ensino da Universidade Federal do Rio Grande do Sul (UFRGS)

  2016cites this paper
• A behavioural and electrophysiological investigation of cognitive and executive dysfunction in older adults with Williams syndrome

  2016cites this paper
• Social vulnerability in Williams syndrome

  2016cites this paper
• Maternal and indirect genetic effects on behavioural and developmental traits in mammalian disease models

  2016influential citation
• Celiac disease in patients with Williams-Beuren syndrome.

  2015cites this paper
• Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India

  2015cites this paper
• Intracranial Arteries in Individuals with the Elastin Gene Hemideletion of Williams Syndrome

  2014cites this paper
• Investigação da variação no número de cópias genômicas (CNVs) em pacientes com anomalias congênitas e atraso de desenvolvimento neuropsicomotor (ADNPM) pela técnica de MLPA (Multiplex Ligation-dependent Probe Amplification)

  2014cites this paper
• Insights into Common Microdeletion Syndromes

  2014cites this paper
• Clinical expression of familial Williams-Beuren syndrome in a Turkish family

  2014cites this paper
• Prenatal phenotype of Williams–Beuren syndrome and of the reciprocal duplication syndrome

  2014cites this paper
• Investigating the Function of GTF2I and its Contribution to the Williams-Beuren Syndrome Neurological Profile

  2014cites this paper
• A síndrome de Williams-Beuren: contribuições à avaliação clínica e genômica

  2013cites this paper
• Chapter 17 – The Genetics of Fetal and Neonatal Cardiovascular Disease

  2012cites this paper
• Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1-/- Mice

  2012cites this paper
• Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome.

  2012cites this paper
• Familial Williams–Beuren syndrome ascertained by screening rather than targeted diagnosis

  2012cites this paper
• Facial phenotype at different ages and cardiovascular malformations in children with Williams–Beuren syndrome: A study from India

  2012cites this paper
• Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

  2012cites this paper
• Molecular and developmental mechanisms of congenital heart valve disease.

  2011cites this paper
• Análise de marcadores moleculares para o diagnóstico da síndrome de Williams-Beuren

  2011cites this paper
• Genetic Syndrome: Counseling A First Study of Adults With Williams

  2010cites this paper
• Introduction: Williams syndrome

  2010cites this paper
• Copy number variants at Williams–Beuren syndrome 7q11.23 region

  2010cites this paper
• No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control

  2010cites this paper
• Williams-Beuren syndrome.

  2010cites this paper
• WILLIAMS SYNDROME

  2010cites this paper
• Chapter 60. Williams Syndrome

  2010cites this paper
• Genetic counseling of adults with Williams syndrome: A first study

  2010cites this paper
• Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome

  2010cites this paper
• Williams-Beuren Syndrome: Diagnosis by Polymorphic Markers

  2010cites this paper
• Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches

  2010cites this paper
• Inversion Common Polymorphism of the Williams Found Syndrome More Region Frequently Is a in Parents of Children With Williams Syndrome

  2010cites this paper
• Pulmonary function and emphysema in Williams–Beuren syndrome

  2010cites this paper
• Medical Progress Williams – Beuren Syndrome

  2010cites this paper
• Neonatal Williams syndrome presenting as an isolated supravalvular pulmonary stenosis.

  2009cites this paper
• Fluorescent In Situ Hybridization, Psychological, and Psychiatric Studies in Children With Supravalvular Aortic Stenosis

  2009cites this paper
• Research into Williams Syndrome: the state of the art

  2008cites this paper
• The genomic basis of the Williams – Beuren syndrome

  2008cites this paper
• Intellectual disability and genetic influences

  2008cites this paper
• LANGUAGE AND WILLIAMS SYNDROME

  2008cites this paper
• Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

  2008cites this paper
• Syndrome: The State of the Art

  2008cites this paper
• Sudden unexpected death in a toddler with Williams syndrome

  2008cites this paper
• Diagnosis and management of medical problems in adults with Williams–Beuren syndrome

  2007cites this paper
• Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

  2007cites this paper
• Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

  2007cites this paper
• Three live-birth pregnancies in a woman with Williams syndrome.

  2007cites this paper
• Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

  2007cites this paper
• The human genome; you gain some, you lose some

  2007cites this paper
• Deletions of the Elastin Gene at 7q 1 1.23 Occur in -90O% of Patients with Williams Syndrome

  2007cites this paper
• Hearts and bones: shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development.

  2006cites this paper
• Echocardiographic findings in patients with Williams-Beuren syndrome

  2006cites this paper
• Síndrome de Williams: aspectos clínicos y bases moleculares

  2006cites this paper
• Evolució molecular i estudi funcional de gens localitzats a les duplicacions segmentàries de la regió 7q11.23

  2006cites this paper
• Chapter 24 – Skeletal Dysplasias and Connective Tissue Disorders

  2005cites this paper
• Medical overview and genetics of Williams-Beuren syndrome

  2005cites this paper
• Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

  2005cites this paper
• Autosomal dominant inheritance of Williams–Beuren syndrome in a father and son with haploinsufficiency for FKBP6

  2005cites this paper
• Growth Hormone Deficiency in a Child with Williams-Beuren Syndrome. The Response to Growth Hormone Therapy

  2005cites this paper
• Two pregnancies in a woman with Williams syndrome

  2004cites this paper
• Investigating intellectual disability: A genetic perspective

  2003cites this paper
• Mutational mechanisms of Williams-Beuren syndrome deletions.

  2003cites this paper
• What can developmental disorders tell us about the neurocomputational constraints that shape development? The case of Williams syndrome

  2003cites this paper
• GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

  2003cites this paper
• Williams-Beuren Syndrome

  2003cites this paper
• Williams-Beuren Syndrome: A Model of Recurrent Genomic Mutation

  2003cites this paper
• A linguistic dissociation in Williams syndrome: Good at gender agreement but poor at lexical retrieval

  2002cites this paper
• Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder

  2001cites this paper
• Williams-syndroom: nieuwe inzichten in genetische etiologie, pathogenese en kliniek

  2001cites this paper
• What atypical populations can reveal about language development: The contrast between deafness and Williams syndrome

  2001cites this paper
• Williams-Beuren Syndrome And Supravalvularaortic Stenosis

  2001cites this paper
• Familial Williams-Beuren syndrome showing varying clinical expression.

  2001cites this paper
• Cleft Palate in a Patient with Williams' Syndrome

  2001cites this paper
• Molecular mechanisms for constitutional chromosomal rearrangements in humans.

  2000cites this paper
• [Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype].

  2000cites this paper
• Elastin Gene Deletions in Williams Syndrome Patients Result in Altered Deposition of Elastic Fibers in Skin and a Subclinical Dermal Phenotype

  2000cites this paper
• Williams syndrome: from genotype through to the cognitive phenotype.

  2000cites this paper
• Structure of chromosomal duplicons and their role in mediating human genomic disorders.

  2000cites this paper
• [Cardiogenetics in the year 2000].

  2000cites this paper
• The Williams syndrome cognitive profile.

  2000cites this paper
• Dental anomalies in Williams syndrome

  2000cites this paper
• Síndrome de Williams: aspectos psicobiológicos

  2000cites this paper
• Williams syndrome and related disorders.

  2000cites this paper
• Birth of a formulary

  1999cites this paper
• Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.

  1999cites this paper