Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy-Reference-Cited by-同舟云学术

Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

Published:2007-11 Issue:5 Volume:81 Page:1057-1069
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mefford Heather C.,Clauin Séverine,Sharp Andrew J.,Moller Rikke S.,Ullmann Reinhard,Kapur Raj,Pinkel Dan,Cooper Gregory M.,Ventura Mario,Ropers H. Hilger,Tommerup Niels,Eichler Evan E.,Bellanne-Chantelot Christine

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

1. Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease;Shaw;Hum Mol Genet Spec 1,2004

2. Diagnostic genome profiling in mental retardation;de Vries;Am J Hum Genet,2005

3. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation;Friedman;Am J Hum Genet,2006

4. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism;Koolen;Nat Genet,2006

5. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports;Menten;J Med Genet,2006

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