Associated Papers
Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.
Yuan ZZ et al.
Bioscience Reports, 2020
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
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
Takano K et al.
Human Genome Variation, 2016
A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.
Pang X et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
Ishino T et al.
European Journal of Medical Genetics, 2015
A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.
Masuda S et al.
Biochemical and Biophysical Research Communications, 2014
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
Growth and skeletal development in families with NOGGIN gene mutations.
Oxley CD et al.
Hormone Research, 2008
Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.
Groppe J et al.
Nature, 2002
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