Associated Papers
Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder.
Sonoyama T et al.
Human Genome Variation, 2023
Multiple synostoses syndrome: Clinical report and retrospective analysis.
Pan Z et al.
American Journal of Medical Genetics. Part A, 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
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.
Ishino T et al.
European Journal of Medical Genetics, 2015
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
Ganaha A et al.
Journal of Human Genetics, 2015
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
Congenital conductive hearing loss and multiple synostosis syndrome with analysis of temporal bone CT scan findings.
Joseph JA et al.
International Journal of Pediatric Otorhinolaryngology, 2010
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis.
Emery SB et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2009
Crystal structure analysis reveals how the Chordin family member crossveinless 2 blocks BMP-2 receptor binding.
Zhang JL et al.
Developmental Cell, 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
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
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