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There are 26415 results for: content related to: Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

  1. You have free access to this content
    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)

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 877–886, Tommy A. Potti, Elizabeth M. Petty and Marci M. Lesperance

    Version of Record online : 21 JUN 2011, DOI: 10.1002/humu.21515

  2. You have full text access to this OnlineOpen article
    Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis

    Clinical Genetics

    Volume 82, Issue 6, December 2012, Pages: 514–520, S Usami, S Abe, S Nishio, Y Sakurai, H Kojima, T Tono and N Suzuki

    Version of Record online : 30 JAN 2012, DOI: 10.1111/j.1399-0004.2011.01831.x

  3. Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1540–1544, Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann and Klaus Zerres

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33387

  4. Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2034–2041, María Luisa Martínez-Fernández, Joaquin Fernández-Toral, Isabel Llano-Rivas, Eva Bermejo-Sánchez, Alexandra MacDonald and María Luisa Martínez-Frías

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37117

  5. Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss

    American Journal of Medical Genetics Part A

    Volume 170, Issue 6, June 2016, Pages: 1479–1484, Allan Bayat, Igor Fijalkowski, Tobias Andersen, Sura Azhar Abdulmunem, Jenneke van den Ende and Wim Van Hul

    Version of Record online : 20 MAR 2016, DOI: 10.1002/ajmg.a.37626

  6. Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 3, 30 April 2005, Pages: 318–320, Philippe Debeer, Christel Huysmans, Wim J.M. Van de Ven, Jean-Pierre Fryns and Koen Devriendt

    Version of Record online : 25 FEB 2005, DOI: 10.1002/ajmg.a.30645

  7. A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 381–385, Piranit N. Kantaputra, Yupada Pongprot, Oranud Praditsap, Theeraphong Pho-iam and Chanin Limwongse

    Version of Record online : 7 FEB 2003, DOI: 10.1002/ajmg.a.20040

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    Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival

    Developmental Dynamics

    Volume 235, Issue 9, September 2006, Pages: 2507–2520, Ryan M. Anderson, Rolf W. Stottmann, Murim Choi and John Klingensmith

    Version of Record online : 7 AUG 2006, DOI: 10.1002/dvdy.20891

  9. You have free access to this content
    New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): Mutation within the GDF5 knuckle epitope causes noggin-resistance

    Journal of Bone and Mineral Research

    Volume 27, Issue 2, February 2012, Pages: 429–442, Gerburg K. Schwaerzer, Christian Hiepen, Heinrich Schrewe, Joachim Nickel, Frank Ploeger, Walter Sebald, Thomas Mueller and Petra Knaus

    Version of Record online : 23 JAN 2012, DOI: 10.1002/jbmr.532

  10. A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 17, 1 September 2006, Pages: 1846–1853, Xu Wang, Fuying Xiao, Qinbo Yang, Bo Liang, Zhaohui Tang, Linbin Jiang, Qihui Zhu, Wei Chang, Jiuxi Jiang, Chuanming Jiang, Xiang Ren, Jing-Yu Liu, Qing K. Wang and Mugen Liu

    Version of Record online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31372

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    Aberrant Bmp signaling and notochord delamination in the pathogenesis of esophageal atresia

    Developmental Dynamics

    Volume 236, Issue 3, March 2007, Pages: 746–754, Yina Li, Ying Litingtung, Peter Ten Dijke and Chin Chiang

    Version of Record online : 26 JAN 2007, DOI: 10.1002/dvdy.21075

  12. 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

    Journal of Bone and Mineral Research

    Volume 31, Issue 4, April 2016, Pages: 882–889, 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 and Yiping Shen

    Version of Record online : 28 DEC 2015, DOI: 10.1002/jbmr.2761

  13. A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 156–159, Mark J. Stephan

    Version of Record online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31034

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    Persistent Noggin arrests cardiomyocyte morphogenesis and results in early in utero lethality

    Developmental Dynamics

    Volume 244, Issue 3, March 2015, Pages: 457–467, Olga Simmons, Paige Snider, Jain Wang, Robert J. Schwartz, Yiping Chen and Simon J. Conway

    Version of Record online : 9 DEC 2014, DOI: 10.1002/dvdy.24233

  15. Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva

    American Journal of Medical Genetics

    Volume 102, Issue 4, 1 September 2001, Pages: 314–317, Olivier Sémonin, Karine Fontaine, Christian Daviaud, Carmen Ayuso and Gérard Lucotte

    Version of Record online : 16 JUL 2001, DOI: 10.1002/ajmg.1504

  16. Cryptic 17q22 deletion in a boy with a t(10;17)(p15.3;q22) translocation, multiple synostosis syndrome 1, and hypogonadotropic hypogonadism

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 11, 1 June 2008, Pages: 1458–1461, Reiko Shimizu, Norimasa Mitsui, Yasuhiro Mori, Shogen Cho, Shunji Yamamori, Makiko Osawa and Hirofumi Ohashi

    Version of Record online : 30 APR 2008, DOI: 10.1002/ajmg.a.32319

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    Role of bone morphogenetic proteins on cochlear hair cell formation: Analyses of Noggin and Bmp2 mutant mice

    Developmental Dynamics

    Volume 239, Issue 2, February 2010, Pages: 505–513, Chan Ho Hwang, Dayong Guo, Marie A. Harris, Omar Howard, Yuji Mishina, Lin Gan, Stephen E. Harris and Doris K. Wu

    Version of Record online : 8 JAN 2010, DOI: 10.1002/dvdy.22200

  18. A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 4, 1 August 2004, Pages: 439–440, P. Debeer, E. Baten, C. Huysmans, W.J.M. Van de Ven, J.-P. Fryns and K. Devriendt

    Version of Record online : 21 JUN 2004, DOI: 10.1002/ajmg.a.30152

  19. Morphogenesis of the trachea and esophagus: current players and new roles for noggin and Bmps

    Differentiation

    Volume 74, Issue 7, September 2006, Pages: 422–437, Jianwen Que, Murim Choi, Joshua W. Ziel, John Klingensmith and Brigid L.M. Hogan

    Version of Record online : 14 AUG 2006, DOI: 10.1111/j.1432-0436.2006.00096.x

  20. Spondylocarpotarsal synostosis with epiphyseal dysplasia

    American Journal of Medical Genetics

    Volume 109, Issue 4, 15 May 2002, Pages: 318–322, Christina Honeywell, Leonard Langer and Judith Allanson

    Version of Record online : 11 APR 2002, DOI: 10.1002/ajmg.10383