Literature DB >> 19807741

Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene.

Renato Borgatti, Susan Marelli, Laura Bernardini, Antonio Novelli, Anna Cavallini, Alessandra Tonelli, Maria Teresa Bassi, Bruno Dallapiccola.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2009        PMID： 19807741     DOI： 10.1111/j.1399-0004.2009.01262.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  4 in total

Review 1.  A comprehensive analysis of gene expression profiles in distal parts of the mouse renal tubule.

Authors:  Sylvain Pradervand; Annie Zuber Mercier; Gabriel Centeno; Olivier Bonny; Dmitri Firsov
Journal:  Pflugers Arch       Date:  2010-08-05       Impact factor: 3.657

2.  Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

Authors:  Nien-Yi Chiang; Cheng-Chih Hsiao; Yi-Shu Huang; Hsin-Yi Chen; I-Ju Hsieh; Gin-Wen Chang; Hsi-Hsien Lin
Journal:  J Biol Chem       Date:  2011-02-24       Impact factor: 5.157

3.  The clinical impact of chromosomal microarray on paediatric care in Hong Kong.

Authors:  Victoria Q Tao; Kelvin Y K Chan; Yoyo W Y Chu; Gary T K Mok; Tiong Y Tan; Wanling Yang; So Lun Lee; Wing Fai Tang; Winnie W Y Tso; Elizabeth T Lau; Anita S Y Kan; Mary H Tang; Yu-Lung Lau; Brian H Y Chung
Journal:  PLoS One       Date:  2014-10-15       Impact factor: 3.240

4.  Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event.

Authors:  Rita Genesio; Valentina Ronga; Pia Castelluccio; Gennaro Fioretti; Angela Mormile; Graziella Leone; Anna Conti; Maria Luigia Cavaliere; Lucio Nitsch
Journal:  Mol Cytogenet       Date:  2013-08-01       Impact factor: 2.009
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.