Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries-Reference-Cited by-同舟云学术

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Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Published:2012-01-09 Issue:1 Volume:5 Page:
ISSN:1756-0500
Container-title:BMC Research Notes
language:en
Short-container-title:BMC Res Notes

Author:

Dutra Roberta L,Honjo Rachel S,Kulikowski Leslie D,Fonseca Fernanda M,Pieri Patrícia C,Jehee Fernanda S,Bertola Debora R,Kim Chong A

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1756-0500-5-13.pdf

Reference28 articles.

1. Williams JC, Barratt-Boyes BG, Lowe JB: Supravalvular aortic stenosis. Circulation. 1961, 24: 1311-1318.

2. Beuren AJ, Apitz J, Harmjanz D: Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation. 1962, 26: 1235-1240.

3. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL: Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988, 113: 318-326. 10.1016/S0022-3476(88)80272-5.

4. Strømme P, Bjørnstad PG, Ramstad K: Prevalence estimation of Williams syndrome. J Child Neurol. 2002, 17: 269-271. 10.1177/088307380201700406.

5. Morris CA, Thomas IT, Greenberg F: Williams syndrome: autosomal dominant inheritance. Am J Med Genet. 1993, 47: 478-481. 10.1002/ajmg.1320470409.

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1. Williams–Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion;BMJ Case Reports;2024-07

2. Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil;Journal of Pediatric Genetics;2022-11-14

3. Williams syndrome;Nature Reviews Disease Primers;2021-06-17

4. Assessment of Multiplex Ligation-Dependent Probe Amplification (MLPA) as a diagnostic test for Egyptian patients with Williams-Beuren syndrome;Gene Reports;2020-09

5. Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH;Journal of Genetics;2019-04-08

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