PMC Articles for MedGen (Select 357104) - PMC

Select item 3791961.

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance

Am J Hum Genet. 2002 Sep; 71(3): 618–624. Published online 2002 Jun 27. doi: 10.1086/342067

PMCID:: PMC379196

Abstract Article PDF–423K

Select item 35326042.

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono, N Suzuki

Clin Genet. 2012 Dec; 82(6): 514–520. Published online 2012 Jan 30. doi: 10.1111/j.1399-0004.2011.01831.x

PMCID:: PMC3532604

Abstract Article PDF–643K

Select item 90346783.

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Zhao Zhang, Yu Lu, Jing‐Yuan Cao, Li Wang, Lin‐Ke Li, Chao Wang, Xuan Ye, Yi‐Ming Ji, Lin‐Yi Tu, Yi Sun

Mol Genet Genomic Med. 2022 May; 10(5): e1933. Published online 2022 Mar 25. doi: 10.1002/mgg3.1933

PMCID:: PMC9034678

Abstract Article PDF–2.3M

Select item 84860424.

Genetic heterogeneity and core clinical features of NOG-related-symphalangism spectrum disorder

Ryan J. Carlson, Alicia Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Suleyman Gulsuner, Kathleen A. Leppig, Karen B. Avraham, Mary-Claire King, Tom Walsh, Jay Rubinstein

Otol Neurotol. Author manuscript; available in PMC 2022 Sep 1.

Published in final edited form as: Otol Neurotol. 2021 Sep 1; 42(8): e1143–e1151. doi: 10.1097/MAO.0000000000003176

PMCID:: PMC8486042

Abstract Article PDF–1.2M

Select item 77332655.

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation

Rong Yu, Hongqun Jiang, Huihuang Liao, Wugen Luo

BMC Med Genomics. 2020; 13: 187. Published online 2020 Dec 11. doi: 10.1186/s12920-020-00843-5

PMCID:: PMC7733265

Abstract Article PDF–1.4M

Select item 65573316.

Tarsal–carpal coalition syndrome: importance of early diagnosis

Gloria Tze Yan Lau, Gayatri Athalye-Jape, Natasha Amery

BMJ Case Rep. 2019; 12(6): e229391. Published online 2019 Jun 6. doi: 10.1136/bcr-2019-229391

PMCID:: PMC6557331

Abstract Article PDF–1.9M

Select item 52681667.

A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal

Jian Wang, Tingting Yu, Zhigang Wang, Satoshi Ohte, Ru-en Yao, Zhaojing Zheng, Juan Geng, Haiqing Cai, Yihua Ge, Yuchan Li, Yunlan Xu, Qinghua Zhang, James F Gusella, Qihua Fu, Steven Pregizer, Vicki Rosen, Yiping Shen

J Bone Miner Res. Author manuscript; available in PMC 2017 Jan 26.

Published in final edited form as: J Bone Miner Res. 2016 Apr; 31(4): 882–889. Published online 2015 Dec 28. doi: 10.1002/jbmr.2761

PMCID:: PMC5268166

Abstract Article PDF–762K

Select item 46597748.

Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder

Alicia M. Quesnel, Joseph B. Nadol, Jr., G. Petur Nielsen, Hugh D. Curtin, Marci M. Lesperance

Otol Neurotol. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Otol Neurotol. 2015 Dec; 36(10): 1651–1656. doi: 10.1097/MAO.0000000000000861

PMCID:: PMC4659774

Abstract Article PDF–2.8M

Select item 43767269.

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Xiuhong Pang, Huajie Luo, Yongchuan Chai, Xiaowen Wang, Lianhua Sun, Longxia He, Penghui Chen, Hao Wu, Tao Yang

PLoS One. 2015; 10(3): e0120816. Published online 2015 Mar 27. doi: 10.1371/journal.pone.0120816

PMCID:: PMC4376726

Abstract Article PDF–2.1M

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