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There are 13993 results for: content related to: Confirmation of GRHL2 as the gene for the DFNA28 locus

  1. 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

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395

  2. 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

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  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

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36241

  4. You have free access to this content
    Annals of morphology. Atavisms: Phylogenetic lazarus?

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2822–2835, Ginevra Zanni and John M. Opitz

    Version of Record online : 8 OCT 2013, DOI: 10.1002/ajmg.a.36234

  5. 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

  6. 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

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  7. 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

  8. 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

  9. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2989–3004, Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

    Version of Record online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

  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. 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

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36135

  12. 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

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    Historical perspective on developmental concepts and terminology

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2711–2725, John M. Opitz and Giovanni Neri

    Version of Record online : 10 OCT 2013, DOI: 10.1002/ajmg.a.36244

  14. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 1061–1070, David D. Weaver, Audrey R. Norby, Jill A. Rosenfeld, Virginia K. Proud, Brooke E. Spangler, Jeffrey E. Ming, Elizabeth Chisholm, Elaine H. Zackai, Beom Hee Lee, Lisa Edelmann and Robert J. Desnick

    Version of Record online : 27 FEB 2015, DOI: 10.1002/ajmg.a.36973

  15. ADAM “sequence” part II: Hypothesis and speculation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 478–503, John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36937

  16. Oligohydramnios sequence revisited in relationship to arthrogryposis, with distinctive skin changes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2775–2792, Judith G. Hall

    Version of Record online : 26 AUG 2014, DOI: 10.1002/ajmg.a.36731

  17. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1648–1658, Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

    Version of Record online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

  18. Autism traits in children and adolescents with Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1400–1410, Siddharth Srivastava, Colleen Landy-Schmitt, Bennett Clark, Antonie D. Kline, Matt Specht and Marco A. Grados

    Version of Record online : 9 APR 2014, DOI: 10.1002/ajmg.a.36573

  19. If not Angelman, what is it? a review of Angelman-like syndromes

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 975–992, Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

    Version of Record online : 29 JAN 2014, DOI: 10.1002/ajmg.a.36416

  20. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 141–155, Anne Wheeler, Melissa Raspa, Carla Bann, Ellen Bishop, David Hessl, Pat Sacco and Donald B. Bailey Jr.

    Version of Record online : 25 NOV 2013, DOI: 10.1002/ajmg.a.36232