Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
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Open Access
- 2 October 2008
- journal article
- other
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (4) , 511-519
- https://doi.org/10.1016/j.ajhg.2008.09.005
Abstract
No abstract availableKeywords
This publication has 42 references indexed in Scilit:
- The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeMolecular Human Reproduction, 2008
- Mutations in a new member of the chromodomain gene family cause CHARGE syndromeNature Genetics, 2004
- The many colours of chromodomainsBioEssays, 2004
- TheGPR54Gene as a Regulator of PubertyNew England Journal of Medicine, 2003
- SIFT: predicting amino acid changes that affect protein functionNucleic Acids Research, 2003
- Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndromeNature Genetics, 2003
- The dMi-2 chromodomains are DNA binding modules important for ATP-dependent nucleosome mobilizationThe EMBO Journal, 2002
- Hypogonadism and CHARGE associationAmerican Journal of Medical Genetics, 2000
- Migratory arrest of gonadotropin-releasing hormone neurons in transgenic mice.Proceedings of the National Academy of Sciences, 1991
- Immortalization of hypothalamic GnRH by genetically targeted tumorigenesisNeuron, 1990