Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes-Reference-Cited by-同舟云学术

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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Published:1999-01 Issue:1 Volume:64 Page:118-125
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Tassabehji Mayada,Metcalfe Kay,Karmiloff-Smith Annette,Carette Martin J.,Grant Julia,Dennis Nick,Reardon W.,Splitt Miranda,Read Andrew P.,Donnai Dian

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference36 articles.

1. Regulation of actin dynamics through phosphorylation of cofilin by LIM-kinase;Arber;Nature,1998

2. High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions;Baumer;Hum Mol Genet,1998

3. Williams syndrome: an unusual neuropsychological profile;Bellugi,1994

4. Behavioral and emotional disturbance in individuals with Williams syndrome;Einfeld;Am J Ment Retard,1997

5. Differential ability scales;Elliott,1990

Cited by 191 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Vascular abnormalities in heart and brain are associated with cardiovascular and neurological symptoms in a novel mouse model for Williams syndrome;2023-10-31

2. DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number;npj Genomic Medicine;2023-09-14

3. Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review;Revista Paulista de Pediatria;2023

4. Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review;Neuropsychology Review;2022-12-15

5. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome;British Journal of Ophthalmology;2022-06-27

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