Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing-Reference-Cited by-同舟云学术

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Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

Published:2010-06-11 Issue:8 Volume:31 Page:918-923
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Lalonde Emilie,Albrecht Steffen,Ha Kevin C.H.,Jacob Karine,Bolduc Nathalie,Polychronakos Constantin,Dechelotte Pierre,Majewski Jacek,Jabado Nada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21293/fullpdf

Reference28 articles.

1. Fowler syndrome presenting as a Dandy-Walker malformation: a second case report;Al-Adnani;Pediatr Dev Pathol,2009

2. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases;Bessieres-Grattagliano;Eur J Med Genet,2009

3. Aligning multiple genomic sequences with the threaded blockset aligner;Blanchette;Genome Res,2004

4. Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1;Brown;J Virol,2006

5. Congenital hydranencephalic-hydrocephalic syndrome with proliferative vasculopathy: a possible relation with mitochondrial dysfunction;Castro-Gago;J Child Neurol,2001

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