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Journal Abstract Search

167 related items for PubMed ID: 22288654

  • 21. Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
    Sha Y, Ma D, Zhang N, Wei X, Liu W, Wang X.
    BMC Med Genet; 2019 Aug 01; 20(1):133. PubMed ID: 31370824
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  • 26. Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.
    Sun H, Qiao Y, Chen N, Yang H, Gao Z, Shang Y.
    Ear Nose Throat J; 2021 Jun 01; 100(3_suppl):333S-336S. PubMed ID: 32791904
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  • 27. A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.
    Takano K, Ogasawara N, Matsunaga T, Mutai H, Sakurai A, Ishikawa A, Himi T.
    Hum Genome Var; 2016 Jun 01; 3():16023. PubMed ID: 27508084
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  • 28. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
    Hilhorst-Hofstee Y, Watkin PM, Hall CM, Baraitser M.
    Clin Dysmorphol; 1997 Jul 01; 6(3):195-203. PubMed ID: 9220188
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  • 29. Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
    Das Bhowmik A, Salem Ramakumaran V, Dalal A.
    Am J Med Genet A; 2018 Jan 01; 176(1):219-224. PubMed ID: 29159868
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  • 30. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.
    Dixon ME, Armstrong P, Stevens DB, Bamshad M.
    Genet Med; 2001 Jan 01; 3(5):349-53. PubMed ID: 11545688
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  • 31. Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
    Liu F, Huang Y, Liu L, Liang B, Qu Z, Huang G, Li C, Tian R, Jiang Z, Liu F, Yu X, Huang Y, Liu J, Tang Z.
    Clin Chim Acta; 2014 Feb 15; 429():129-33. PubMed ID: 24326127
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  • 32. Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.
    Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL.
    BMC Med Genet; 2019 Nov 06; 20(1):169. PubMed ID: 31694554
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  • 33. The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.
    Shu Y, Wang L, Cheng X, Tangshewinsirikul C, Shi W, Yuan Y, Yan Z, Li H, Shen J, Chen B, Zou W.
    J Genet Genomics; 2019 Sep 20; 46(9):445-449. PubMed ID: 31628072
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  • 34. A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.
    Pang X, Wang Z, Chai Y, Chen H, Li L, Sun L, Jia H, Wu H, Yang T.
    Ann Otol Rhinol Laryngol; 2015 Sep 20; 124(9):745-51. PubMed ID: 25888563
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  • 35. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
    Wang X, Xiao F, Yang Q, Liang B, Tang Z, Jiang L, Zhu Q, Chang W, Jiang J, Jiang C, Ren X, Liu JY, Wang QK, Liu M.
    Am J Med Genet A; 2006 Sep 01; 140A(17):1846-53. PubMed ID: 16892395
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  • 36. Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.
    Zhang Z, Lu Y, Cao JY, Wang L, Li LK, Wang C, Ye X, Ji YM, Tu LY, Sun Y.
    Mol Genet Genomic Med; 2022 May 01; 10(5):e1933. PubMed ID: 35332702
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  • 37. An autosomal dominant inherited syndrome with congenital stapes ankylosis.
    Teunissen B, Cremers WR.
    Laryngoscope; 1990 Apr 01; 100(4):380-4. PubMed ID: 2319886
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  • 38. Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder.
    Quesnel AM, Nadol JB, Nielsen GP, Curtin HD, Lesperance MM.
    Otol Neurotol; 2015 Dec 01; 36(10):1651-6. PubMed ID: 26474326
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  • 39. Surgical Considerations for Massive Tarsal Coalitions in Multiple Synostosis Syndrome: A Case Report.
    Merchant R, Bhatt N, Merchant M.
    J Foot Ankle Surg; 2015 Dec 01; 54(6):1162-5. PubMed ID: 25799911
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  • 40. 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.
    Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y.
    J Bone Miner Res; 2016 Apr 01; 31(4):882-9. PubMed ID: 26643732
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