ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2010
Introduction: Williams syndrome.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Oxytocin and Oxytocin Receptor Gene Regulation in Williams Syndrome: A Systematic Review.The Yale journal of biology and medicine · 2021Pooled it
- Williams-Beuren syndrome in diverse populations.American journal of medical genetics. Part A · 2018Pooled it
- Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome.Case reports in pediatrics · 2026Article
- Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.Clinical case reports · 2025Article
- Williams syndrome presenting as infantile hypercalcemia with acute kidney injury: a case report.CEN case reports · 2025Article
- Behavioral and Psychiatric Disorders in Syndromic Autism.Brain sciences · 2024Review
- Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.The application of clinical genetics · 2024Article
- Oral language interventions can improve language outcomes in children with neurodevelopmental disorders: A systematic review and meta-analysis.Campbell systematic reviews · 2023Review
- Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders.Human genetics · 2023Article
- In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development.Molecular psychiatry · 2023Article
- Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.Turkish journal of medical sciences · 2023Article
- Atrial septal defect in a pediatric patient with Williams Syndrome: a rare presentation.Journal of surgical case reports · 2022Article
- Williams Syndrome With Rare Ureteric Abnormality.Cureus · 2021Article
- Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.Molecular genetics & genomic medicine · 2021Article
- Did Dog Domestication Contribute to Language Evolution?Frontiers in psychology · 2021Article
- Role of Oligodendrocytes and Myelin in the Pathophysiology of Autism Spectrum Disorder.Brain sciences · 2020Review
- How far musicality and perfect pitch are derived from genetic factors?Journal of applied genetics · 2020Review
- Thrombospondin-2 regulates extracellular matrix production, LOX levels, and cross-linking via downregulation of miR-29.Matrix biology : journal of the International Society for Matrix Biology · 2019Article
- Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.Journal of genetics · 2019Article
- Bone involvement and mineral metabolism in Williams' syndrome.Journal of endocrinological investigation · 2019Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
In the nearly 50 years since the description of Williams syndrome by [Williams et al. (1961); Circulation 24:1311-1318], the focus of scientific inquiry has shifted from identification, definition, and description of the syndrome in small series to genotype-phenotype correlation, pathophysiologic investigation in both humans and in animal models, and therapeutic outcomes in large cohorts. Study of this rare syndrome has provided insight into the structure and function of the extracellular matrix, has contributed to understanding of genomic structure and rearrangement, and is beginning to elucidate genetic underpinnings of learning, language, and behavior. The results of current research not only recommend interventions that can be implemented now, but also identify areas requiring additional investigation, and suggest future therapeutic approaches.
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Registered trials
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