Literature DB >> 23089367

Atypical deletion in Williams-Beuren syndrome critical region detected by MLPA in a patient with supravalvular aortic stenosis and learning difficulty.

Rachel Sayuri Honjo, Roberta Lelis Dutra, Michele Moreira Nunes, Israel Gomy, Leslie Domenici Kulikowski, Fernanda Sarquis Jehee, Chong Ae Kim.   

Abstract

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Year:  2012        PMID： 23089367     DOI： 10.1016/j.jgg.2012.07.001

Source DB:  PubMed          Journal:  J Genet Genomics        ISSN： 1673-8527            Impact factor:   4.275


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  4 in total

1.  Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.

Authors:  Lin Li; Linhuan Huang; Yanmin Luo; Xuan Huang; Shaobin Lin; Qun Fang
Journal:  Mol Syndromol       Date:  2016-02-02

2.  Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Authors:  Carmela Fusco; Lucia Micale; Bartolomeo Augello; Maria Teresa Pellico; Deny Menghini; Paolo Alfieri; Maria Cristina Digilio; Barbara Mandriani; Massimo Carella; Orazio Palumbo; Stefano Vicari; Giuseppe Merla
Journal:  Eur J Hum Genet       Date:  2013-06-12       Impact factor: 4.246

3.  [Association between Williams syndrome and adrenal insufficiency].

Authors:  Meryem Rchachi; Maazou Mahamane Larwanou; Hanan El Ouahabi; Farida Ajdi
Journal:  Pan Afr Med J       Date:  2017-05-05

4.  A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.

Authors:  J R M Ceroni; R L Dutra; R S Honjo; J C Llerena; A X Acosta; P F V Medeiros; M F Galera; É A Zanardo; F B Piazzon; A T Dias; G M Novo-Filho; M M Montenegro; F A R Madia; D R Bertola; J B de Melo; L D Kulikowski; C A Kim
Journal:  Sci Rep       Date:  2018-09-06       Impact factor: 4.379
  4 in total

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