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There are 1202 results for: content related to: Revisit of multiple epiphyseal dysplasia: Ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes

  1. Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development

    American Journal of Medical Genetics Part A

    Volume 127A, Issue 3, 15 June 2004, Pages: 249–257, Brigitte Royer-Pokora, Manfred Beier, Markus Henzler, Rita Alam, Valérie Schumacher, Angela Weirich and Vicki Huff

    Version of Record online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30015

  2. AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance

    Journal of Cellular Physiology

    Volume 217, Issue 3, December 2008, Pages: 605–617, Elias Spanakis, Edrice Milord and Claudia Gragnoli

    Version of Record online : 22 AUG 2008, DOI: 10.1002/jcp.21552

  3. Dys-regulation of clusterin in human hepatoma is not associated with tumorigenesis but is secondary to cell response to external tresses

    Molecular Carcinogenesis

    Volume 43, Issue 2, June 2005, Pages: 100–107, Sen-Yung Hsieh, Wai-Ying Chen, Tsung-Chieh Shih, Jin-Yu Yeh and Ju-Ting Jeng

    Version of Record online : 24 MAR 2005, DOI: 10.1002/mc.20095

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    MLL2 and KDM6A mutations in patients with Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2234–2243, Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto, Seiji Mizuno, Tsutomu Ogata, Toshiro Nagai, Tomoki Kosho, Hirofumi Ohashi, Mitsuhiro Kato, Goro Sasaki, Hiroyo Mabe, Yoriko Watanabe, Makoto Yoshino, Toyojiro Matsuishi, Jun-Ichi Takanashi, Vorasuk Shotelersuk, Mustafa Tekin, Nobuhiko Ochi, Masaya Kubota, Naoko Ito, Kenji Ihara, Toshiro Hara, Hidefumi Tonoki, Tohru Ohta, Kayoko Saito, Mari Matsuo, Mari Urano, Takashi Enokizono, Astushi Sato, Hiroyuki Tanaka, Atsushi Ogawa, Takako Fujita, Yoko Hiraki, Sachiko Kitanaka, Yoichi Matsubara, Toshio Makita, Masataka Taguri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Ko-Ichiro Yoshiura, Naomichi Matsumoto and Norio Niikawa

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  5. Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing

    Prenatal Diagnosis

    Volume 35, Issue 3, March 2015, Pages: 258–265, Li Xiong, Angela N. Barrett, Rui Hua, Tuan Zea Tan, Sherry Sze Yee Ho, Jerry K. Y. Chan, Mei Zhong and Mahesh Choolani

    Version of Record online : 29 DEC 2014, DOI: 10.1002/pd.4536

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    Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments

    Respirology

    Volume 20, Issue 8, November 2015, Pages: 1172–1181, Meenu Singh, Cristina Rebordosa, Juliane Bernholz and Neeraj Sharma

    Version of Record online : 6 OCT 2015, DOI: 10.1111/resp.12656

  7. A Comparison of Different Classification Techniques to Determine the Change Causes in Hotelling's T2 Control Chart

    Quality and Reliability Engineering International

    Volume 31, Issue 7, November 2015, Pages: 1255–1263, Esteban Alfaro, José Luis Alfaro, Matías Gámez and Noelia García

    Version of Record online : 25 OCT 2015, DOI: 10.1002/qre.1901

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    SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

    Journal of Bone and Mineral Research

    Volume 28, Issue 5, May 2013, Pages: 1041–1049, Alessandra Pangrazio, Anders Fasth, Andrea Sbardellati, Paul J Orchard, Kimberly A Kasow, Jamal Raza, Canan Albayrak, Davut Albayrak, Olivier M Vanakker, Barbara De Moerloose, Ashok Vellodi, Luigi D Notarangelo, Claire Schlack, Gabriele Strauss, Jörn-Sven Kühl, Elena Caldana, Nadia Lo Iacono, Lucia Susani, Uwe Kornak, Ansgar Schulz, Paolo Vezzoni, Anna Villa and Cristina Sobacchi

    Version of Record online : 17 APR 2013, DOI: 10.1002/jbmr.1849

  9. Frequent GNAS and KRAS mutations in pyloric gland adenoma of the stomach and duodenum

    The Journal of Pathology

    Volume 229, Issue 4, March 2013, Pages: 579–587, Akiko Matsubara, Shigeki Sekine, Ryoji Kushima, Reiko Ogawa, Hirokazu Taniguchi, Hitoshi Tsuda and Yae Kanai

    Version of Record online : 4 FEB 2013, DOI: 10.1002/path.4153

  10. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3

    Pediatric Blood & Cancer

    Volume 61, Issue 6, June 2014, Pages: 1034–1040, Yaping Qian, Judith A. Johnson, Jessica A. Connor, C. Alexander Valencia, Nathaniel Barasa, Jeffery Schubert, Ammar Husami, Diane Kissell, Ge Zhang, Matthew T. Weirauch, Alexandra H. Filipovich and Kejian Zhang

    Version of Record online : 28 JAN 2014, DOI: 10.1002/pbc.24955

  11. Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients

    The Journal of Clinical Pharmacology

    Volume 55, Issue 3, March 2015, Pages: 261–268, Yang Mei, Sai-Ying Wang, Yang Li, Shuang-Qiang Yi, Chun-Yan Wang, Mi Yang and Kai-Ming Duan

    Version of Record online : 22 DEC 2014, DOI: 10.1002/jcph.405

  12. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1777–1783, Suzanne Drury, Christopher Boustred, Mehmet Tekman, Horia Stanescu, Robert Kleta, Nicholas Lench, Lyn S. Chitty and Richard H. Scott

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36506

  13. Hedgehog signaling update

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 8, August 2010, Pages: 1875–1914, M. Michael Cohen Jr.

    Version of Record online : 15 JUL 2010, DOI: 10.1002/ajmg.a.32909

  14. Clinical, imaging, and molecular findings in a sample of Mexican families with pantothenate kinase-associated neurodegeneration

    Clinical Genetics

    Volume 87, Issue 3, March 2015, Pages: 259–265, H. Morales-Briceño, O.F. Chacón-Camacho, E.A. Pérez-González, J. Arteaga-Vázquez, M. Rodríguez-Violante, A. Cervantes-Arriaga, L. Pérez-Rodríguez, J.C. Zenteno and O.M. Mutchinick

    Version of Record online : 6 JUN 2014, DOI: 10.1111/cge.12400

  15. Association between 49 infant gene polymorphisms and preterm delivery

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 17, 1 September 2007, Pages: 1990–1996, Brian H. Chen, Suzan L. Carmichael, Gary M. Shaw, David M. Iovannisci and Edward J. Lammer

    Version of Record online : 3 AUG 2007, DOI: 10.1002/ajmg.a.31868

  16. SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 18, 15 September 2006, Pages: 1904–1908, Johann Böhm, Susanne Munk-Schulenburg, Stephanie Felscher and Jürgen Kohlhase

    Version of Record online : 4 AUG 2006, DOI: 10.1002/ajmg.a.31383

  17. Disorders of carnitine transport and the carnitine cycle

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 142C, Issue 2, 15 May 2006, Pages: 77–85, Nicola Longo, Cristina Amat di San Filippo and Marzia Pasquali

    Version of Record online : 6 APR 2006, DOI: 10.1002/ajmg.c.30087

  18. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3228–3234, Bridget M. Riley and Jeffrey C. Murray

    Version of Record online : 26 OCT 2007, DOI: 10.1002/ajmg.a.31965

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    Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

    Pediatric Blood & Cancer

    Volume 56, Issue 1, January 2011, Pages: 7–15, Katherine W. Eaton, Laura S. Tooke, Luanne M. Wainwright, Alexander R. Judkins and Jaclyn A. Biegel

    Version of Record online : 24 NOV 2010, DOI: 10.1002/pbc.22831

  20. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 5, 1 March 2008, Pages: 558–569, David O. Robinson, Rachel J. Howarth, Kathleen A. Williamson, Veronica van Heyningen, Sarah J. Beal and John A. Crolla

    Version of Record online : 1 FEB 2008, DOI: 10.1002/ajmg.a.32209