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There are 6727 results for: content related to: Mortality of congenital osteochondrodysplasias: A nationwide registry-based study

  1. Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

    American Journal of Medical Genetics Part A

    Eda Didem Kurt-Sukur, Pelin Ozlem Simsek-Kiper, Gülen Eda Utine, Koray Boduroglu and Yasemin Alanay

    Article first published online : 30 APR 2015, DOI: 10.1002/ajmg.a.37122

  2. A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2118–2120, Jae Young Park, Soo Hyun Koo, Yu Jin Jung, Yun-Jung Lim and Mi Lim Chung

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36563

  3. You have free access to this content
    Fragile X syndrome: From protein function to therapy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2809–2821, Claudia Bagni and Ben A. Oostra

    Article first published online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

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    Amyoplasia revisited

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 700–730, Judith G. Hall, Kimberly A. Aldinger and Kimi I. Tanaka

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  5. Autism and epistemology IV: Does autism need a theory of mind?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2464–2480, Gene S. Fisch

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  6. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Article first published online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  7. Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis

    American Journal of Medical Genetics

    Volume 61, Issue 1, 2 January 1996, Pages: 49–58, Sonja A. Rasmussen, Frederick R. Bieber, Beryl R. Benacerraf, Ralph S. Lachman, David L. Rimoin and Lewis B. Holmes

    Article first published online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960102)61:1<49::AID-AJMG10>3.0.CO;2-W

  8. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 724–730, Keiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, Noriko Sangu, Shino Shimada and Toshiyuki Yamamoto

    Article first published online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36959

  9. Embryonic left–right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3095–3114, Kun Ma

    Article first published online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  10. Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats

    Journal of Small Animal Practice

    Volume 49, Issue 4, April 2008, Pages: 197–199, M. Takanosu, T. Takanosu, H. Suzuki and K. Suzuki

    Article first published online : 12 MAR 2008, DOI: 10.1111/j.1748-5827.2008.00561.x

  11. Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 231–236, Yoko Hiraki, Satoko Miyatake, Michiko Hayashidani, Yutaka Nishimura, Hiroo Matsuura, Masahiro Kamada, Takuji Kawagoe, Keiji Yunoki, Nobuhiko Okamoto, Hiroko Yofune, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Satisu, Akira Murakami, Noriko Miyake, Gen Nishimura and Naomichi Matsumoto

    Article first published online : 25 NOV 2013, DOI: 10.1002/ajmg.a.36228

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    Mosaicism for trisomy 21: A review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 26–39, Paulie Papavassiliou, Chariyawan Charalsawadi, Kelly Rafferty and Colleen Jackson-Cook

    Article first published online : 20 NOV 2014, DOI: 10.1002/ajmg.a.36861

  13. The VACTERL Association as a disturbance of cell fate determination

    American Journal of Medical Genetics Part A

    Mark Lubinsky

    Article first published online : 14 JUL 2015, DOI: 10.1002/ajmg.a.37238

  14. Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2321–2326, Samantha J Turner, Michael S. Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E. Scheffer and Angela T. Morgan

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36055

  15. A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2863–2868, Setareh Moghadasi, Arie van Haeringen, Lieke Langendonck, Antoinet C. J. Gijsbers and Claudia A. L. Ruivenkamp

    Article first published online : 13 AUG 2014, DOI: 10.1002/ajmg.a.36700

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    Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 2979–2986, Joan K. Morris, Ester Garne, Diana Wellesley, Marie-Claude Addor, Larraitz Arriola, Ingeborg Barisic, Judit Beres, Fabrizio Bianchi, Judith Budd, Carlos Matias Dias, Miriam Gatt, Kari Klungsoyr, Babak Khoshnood, Anna Latos-Bielenska, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Mary O'Mahony, Annette Queisser-Luft, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Cath Rounding, Antonin Sipek, Sylvia Stoianova, David Tucker, Hermien de Walle, Lyubov Yevtushok, Maria Loane and Helen Dolk

    Article first published online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36780

  17. Central 22q11.2 deletions

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2707–2723, Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren-Bemelmans, Hermine E. Veenstra-Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema-Raddatz, Trijnie Dijkhuizen and Conny M. van Ravenswaaij-Arts

    Article first published online : 14 AUG 2014, DOI: 10.1002/ajmg.a.36711

  18. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

    American Journal of Medical Genetics Part A

    Karen W. Gripp, Katia Sol-Church, Patroula Smpokou, Gail E. Graham, David A. Stevenson, Heather Hanson, David H. Viskochil, Laura C. Baker, Bridget Russo, Nick Gardner, Deborah L. Stabley, Verena Kolbe and Georg Rosenberger

    Article first published online : 25 APR 2015, DOI: 10.1002/ajmg.a.37128

  19. 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

    Article first published online : 3 JUL 2013, DOI: 10.1002/ajmg.a.36019

  20. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2601–2606, O. Khalifa, F. Imtiaz, K. Ramzan, R. Allam, A. Al- Hemidan, E. Faqeih, G. Abuharb, A. Balobaid, N. Sakati and M. Al- Owain

    Article first published online : 29 JUL 2014, DOI: 10.1002/ajmg.a.36681