Associated Papers
Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
Ma C et al.
Bmc Medical Genetics, 2019
The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
Shu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions.
Xiong J et al.
Frontiers in Genetics, 2019
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
Takano K et al.
Human Genome Variation, 2016
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.
Day FR et al.
Nature Genetics, 2015
26414677 (PubMed )
Supplement: NIHMS64932-supplement-Supplementary_Tables.xlsx › S14_MAGENTA_cust._POI_
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.
Usami S et al.
Clinical Genetics, 2012
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Potti TA et al.
Human Mutation, 2011
Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.
Thomeer HG et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2011
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Lehmann K et al.
American Journal of Human Genetics, 2007
Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure.
Laissue P et al.
Clinical Endocrinology, 2007
Premature ovarian failure in a female with proximal symphalangism and Noggin mutation.
Kosaki K et al.
Fertility and Sterility, 2004
Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.
Groppe J et al.
Nature, 2002
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0
Select a paper to view details