Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.

No abstract is available for this paper.

• Publication year

  1999

• Venue

  American Journal of Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/302214PMID 9915950PMCID PMC1377709
• 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: Findings from an integrated program of research

  1999cited by this paper
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  1998cited by this paper
• Verbal and nonverbal abilities in the Williams syndrome phenotype: evidence for diverging developmental trajectories.

  1998cited by this paper
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  1998cited by this paper
• A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region

  1998cited by this paper
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  1997influential reference
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• Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

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• Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

  1997influential reference
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• Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis.

  1997cited by this paper
• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

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• LIM–kinase deleted in Williams syndrome

  1996influential reference
• Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

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• LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.

  1996influential reference
• Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

  1996cited by this paper
• Specific eating and sleeping problems in Prader-Willi and Williams-Beuren syndrome.

  1996cited by this paper
• The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

  1996influential reference
• Is There a Social Module? Language, Face Processing, and Theory of Mind in Individuals with Williams Syndrome

  1995cited by this paper
• Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

  1995cited by this paper
• Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

  1995cited by this paper
• Identification and Characterization of a Novel Family of Serine/Threonine Kinases Containing Two N-terminal LIM Motifs (*)

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• Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7

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• A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7.

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• A long-deletion mouse model of Williams syndrome reveals Ncf1-dependent modulation of vascular and neural phenotypes

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• Overuse of familiar phrases by individuals with Williams syndrome masks differences in language processing.

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• Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

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• Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review

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• Atypical deletion of Williams–Beuren syndrome reveals the mechanism of neurodevelopmental disorders

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• SNAREopathies: Diversity in Mechanisms and Symptoms.

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• Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

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