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
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
Das Bhowmik A et al.
American Journal of Medical Genetics. Part A, 2018
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
Takano K et al.
Human Genome Variation, 2016
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
Ishino T et al.
European Journal of Medical Genetics, 2015
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes.
Trakadis YJ et al.
Bmc Medical Genomics, 2014
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
Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.
Zimmer J et al.
Plos One, 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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Growth and skeletal development in families with NOGGIN gene mutations.
Oxley CD et al.
Hormone Research, 2008
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
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.
Weekamp HH et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2005
Structural basis of BMP signalling inhibition by the cystine knot protein Noggin.
Groppe J et al.
Nature, 2002
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism.
Mangino M et al.
Human Mutation, 2002
Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
Dixon ME et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes.
Hirshoren N et al.
European Journal of Medical Genetics, 0