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There are 14355 results for: content related to: A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V

  1. Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1972–1979, Ok-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, Jung-Wook Kim, Sung Yoon Cho, Won Joon Yoo, In Ho Choi, Gen Nishimura, Shiro Ikegawa and Tae-Joon Cho

    Version of Record online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36024

  2. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics Part A

    Volume 164, Issue 5, May 2014, Pages: 1136–1142, Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Valencia, Ana María Bueno, Victor Martinez-Glez, Vanesa López-González, Birute Burnyte, Algirdas Utkus, Pablo Lapunzina and Victor L. Ruiz-Perez

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36409

  3. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 296–312, Yanick J. Crow, Diana S. Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M.A. Forte, Hannah L. Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel-Hamid, Ghada M. Abdel-Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine Albin, Stavit Allon-Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul-Hirji, Eileen M. Baildam, Nadia Bahi-Buisson, Kathryn M. Bailey, Christine Barnerias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward M. Blair, Miriam Bloom, Alberto B. Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro-Gago, Anna Cavallini, Cristina Cereda, Kate E. Chandler, David A. Chitayat, Abigail E. Collins, Concepcion Sierra Corcoles, Nuno J.V. Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D′Arrigo, Christian G.E.L. De Goede, Corinne De Laet, Liesbeth M.H. De Waele, Ines Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael C. Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala R. Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Nasaim Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, Pierre Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming J. Lim, Jean-Pierre S.-M. Lin, Tarja Linnankivi, Mark T. Mackay, Daphna R. Marom, Charles Marques Lourenço, Shane A. McKee, Isabella Moroni, Jenny E.V. Morton, Marie-Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemi Nunez-Enamorado, Patrick J. Oades, Ivana Olivieri, John R. Ostergaard, Belén Pérez-Dueñas, Julie S. Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez, Agathe Roubertie, Elisabetta Salvatici, Karin A. Segers, Gyanranjan P. Sinha, Doriette Soler, Ronen Spiegel, Tommy I. Stödberg, Rachel Straussberg, Kathryn J. Swoboda, Mohnish Suri, Uta Tacke, Tiong Y. Tan, Johann te Water Naude, Keng Wee Teik, Maya Mary Thomas, Marianne Till, Davide Tonduti, Enza Maria Valente, Rudy Noel Van Coster, Marjo S. van der Knaap, Grace Vassallo, Raymon Vijzelaar, Julie Vogt, Geoffrey B. Wallace, Evangeline Wassmer, Hannah J. Webb, William P. Whitehouse, Robyn N. Whitney, Maha S. Zaki, Sameer M. Zuberi, John H. Livingston, Flore Rozenberg, Pierre Lebon, Adeline Vanderver, Simona Orcesi and Gillian I. Rice

    Version of Record online : 16 JAN 2015, DOI: 10.1002/ajmg.a.36887

  4. 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. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1354–1369, José A. Caparrós-Martin, María Valencia, Veronica Pulido, Victor Martínez-Glez, Inmaculada Rueda-Arenas, Khalda Amr, Chantal Farra, Pablo Lapunzina, Victor L. Ruiz-Perez, Samia Temtamy and Mona Aglan

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35938

  6. Osteogenesis imperfecta, tricho-dento-osseous syndrome and intellectual disability: A familial case with 17q21.33-q22 (COL1A1 and DLX3) deletion and 7q32.3-q33 duplication resulting from a reciprocal interchromosomal insertion

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2504–2511, Radu Harbuz, Frédéric Bilan, Dominique Couet, Valérie Charraud, Alain Kitzis and Brigitte Gilbert-Dussardier

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36122

  7. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2339–2346, Yasuhiro Kido, Christopher T. Gordon, Satoru Sakazume, Eya Ben Bdira, Mehul Dattani, Louise C. Wilson, Stanislas Lyonnet, Nobuyuki Murakami, Michael L. Cunningham, Jeanne Amiel and Toshiro Nagai

    Version of Record online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36066

  8. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2066–2073, Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  9. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2204–2215, Ofer Sarig, Dorit Goldsher, Janna Nousbeck, Dana Fuchs-Telem, Ksenya Cohen-Katsenelson, Theodore C. Iancu, Irena Manov, Ann Saada, Eli Sprecher and Hanna Mandel

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36059

  10. Germline mosaicism does not explain the maternal age effect on trisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2495–2503, Ross Rowsey, Anna Kashevarova, Brenda Murdoch, Carrie Dickenson, Tracey Woodruff, Edith Cheng, Patricia Hunt and Terry Hassold

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36120

  11. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3155–3160, Farouq K. Ababneh, Abdulrahman AlSwaid, Talaat Youssef, Manaf Al Azzawi, Andrew Crosby and Mohammed A. AlBalwi

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36160

  12. Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2363–2368, Alberto Plaja, Elisabet Lloveras, Cristina Martinez-Bouzas, Beatriz Barreña, Miguel Del Campo, Asunción Fernández, Marta Herrero, Laura Barranco, Nuria Palau, M. Asunción López-Aríztegui, Vicenç Català and Maria-Isabel Tejada

    Version of Record online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36102

  13. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3035–3041, Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis, Ivo de Blaauw, Rolph Pfundt, Iris A.L.M. van Rooij, Enrika Bartels, Alina Hilger, Ekkehart Jenetzky, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rißmann, Markus M. Nöthen, Nadine Zwink, Michael Ludwig and Heiko Reutter

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36153

  14. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1829–1832, Bertrand Isidor, Guylène Le Meur, Carole Conti, Emmanuelle Caldagues, Elodie Lainey, Elise Launay, Marc David Leclair, Thomas Le Francois, Olivier Pichon, Pierre Boisseau, Audrey Migraine, Boris Keren, Cédric Le Caignec, Yanick J Crow and Albert David

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36021

  15. Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2519–2527, Michael H. Guo, Joan Stoler, Julian Lui, Ola Nilsson, Diana W. Bianchi, Joel N. Hirschhorn and Andrew Dauber

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36128

  16. Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt-oram and ulnar-mammary syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1797–1802, Caroline Alby, Bettina Bessieres, Eric Bieth, Tania Attie-Bitach, Laurent Fermont, Isabelle Citony, Ferechté Razavi, Michel Vekemans, Fabienne Escande, Sylvie Manouvrier, Valérie Malan and Jeanne Amiel

    Version of Record online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36054

  17. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1792–1796, Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat

    Version of Record online : 24 MAY 2013, DOI: 10.1002/ajmg.a.36036

  18. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1882–1896, Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

    Version of Record online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36018

  19. You have full text access to this OnlineOpen article
    Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1470–1481, F.S. Van Dijk and D.O. Sillence

    Version of Record online : 8 APR 2014, DOI: 10.1002/ajmg.a.36545

    Corrected by:

    Erratum: Erratum to: Osteogenesis imperfecta: Clinical diagnosis, nomenclature, and severity assessment

    Vol. 167, Issue 5, 1178, Version of Record online: 27 FEB 2015

  20. Microdeletion 5q14.3 and anomalies of brain development

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2124–2133, Alrun Hotz, Yorck Hellenbroich, Jürgen Sperner, Michaela Linder-Lucht, Uta Tacke, Caren Walter, Almuth Caliebe, Inga Nagel, Dawn E. Saunders, Gerhard Wolff, Peter Martin and Deborah J. Morris-Rosendahl

    Version of Record online : 4 JUL 2013, DOI: 10.1002/ajmg.a.36020