Truncating mutation in NFIA causes brain malformation and urinary tract defects-Reference-Cited by-同舟云学术

Truncating mutation in NFIA causes brain malformation and urinary tract defects

Published:2015-02-26 Issue:1 Volume:2 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Negishi Yutaka,Miya Fuyuki,Hattori Ayako,Mizuno Kentaro,Hori Ikumi,Ando Naoki,Okamoto Nobuhiko,Kato Mitsuhiro,Tsunoda Tatsuhiko,Yamasaki Mami,Kanemura Yonehiro,Kosaki Kenjiro,Saitoh Shinji

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv20157.pdf

Reference18 articles.

1. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q et al. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet 2007; 3: e80.

2. Campbell CG, Wang H, Hunter GW . Interstitial microdeletion of chromosome 1p in two siblings. Am J Med Genet 2002; 111: 289–294.

3. Koehler U, Holinski-Feder E, Ertl-Wagner B, Kunz J, von Moers A, von Voss H et al. A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum. Eur J Pediatr 2010; 169: 463–468.

4. Chen CP, Su YN, Chen YY, Chern SR, Liu YP, Wu PC et al. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction. Taiwan J Obstet Gynecol 2011; 50: 345–352.

5. Ji J, Salamon N, Quintero-Rivera F . Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. Eur J Med Genet 2014; 57: 267–268.

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