Search Results

There are 10691 results for: content related to: The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

  1. Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2287–2293, Steven Mumm, Margaret Huskey, Shenghui Duan, Deborah Wenkert, Katherine L. Madson, Gary S. Gottesman, Angela R. Nenninger, Ronald M. Laxer, William H. McAlister and Michael P. Whyte

    Version of Record online : 2 JUL 2014, DOI: 10.1002/ajmg.a.36641

  2. Rare functional variants in genome–wide association identified candidate genes for nonsyndromic clefts in the African population

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2567–2571, Azeez Butali, Peter Mossey, Wasiu Adeyemo, Mekonen Eshete, Lauren Gaines, Ramat Braimah, Babatunde Aregbesola, Jennifer Rigdon, Christian Emeka, James Olutayo, Olugbenga Ogunlewe, Akinola Ladeinde, Fikre Abate, Taye Hailu, Ibrahim Mohammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Adebowale Adeyemo, Mary Marazita and Jeffrey Murray

    Version of Record online : 31 JUL 2014, DOI: 10.1002/ajmg.a.36691

  3. Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2535–2544, Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L'Heureux, Theresa M. Zucchero, Mary L. Marazita and Jeffrey C. Murray

    Version of Record online : 15 AUG 2013, DOI: 10.1002/ajmg.a.36133

  4. Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2572–2580, Jane C. Figueiredo, Stephanie Ly, Haley Raimondi, Kathy Magee, James W. Baurley, Pedro A. Sanchez-Lara, Ugonna Ihenacho, Caroline Yao, Christopher K. Edlund, David van den Berg, Graham Casey, Yves A. DeClerk, Jonathan M. Samet and William Magee III

    Version of Record online : 5 AUG 2014, DOI: 10.1002/ajmg.a.36693

  5. Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 965–972, Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J. Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita and Jeffery C. Murray

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. Angelman syndrome in adulthood

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 331–344, Anna M. Larson, Julianna E. Shinnick, Elias A. Shaaya, Elizabeth A. Thiele and Ronald L. Thibert

    Version of Record online : 26 NOV 2014, DOI: 10.1002/ajmg.a.36864

  13. 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

  14. Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2545–2549, Anne C. Böhmer, Elisabeth Mangold, Peter Tessmann, Peter A. Mossey, Regine P. Steegers-Theunissen, Jan Lindemans, Marieke Bouwman-Both, Michele Rubini, Paola Franceschelli, Vincenzo Aiello, Borut Peterlin, Anne M. Molloy, Markus M. Nöthen, Michael Knapp and Kerstin U. Ludwig

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36141

  15. 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

  16. 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

  17. Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

    American Journal of Medical Genetics Part A

    Volume 167, Issue 6, June 2015, Pages: 1252–1261, Laïla El Khattabi, Sylvie Jaillard, Joris Andrieux, Laurent Pasquier, Laurence Perrin, Yline Capri, Abdelmadjid Benmansour, Annick Toutain, Pascale Marcorelles, Catherine Vincent-Delorme, Hubert Journel, Catherine Henry, Claire De Barace, Louise Devisme, Christèle Dubourg, Florence Demurger, Josette Lucas, Marc-Antoine Belaud-Rotureau, Jeanne Amiel, Valérie Malan, Marie-Christine De Blois, Loïc De Pontual, Aziza Lebbar, Nathalie Le DÛ, Dominique P. Germain, Jean-Marc Pinard, Eva Pipiras, Anne-Claude Tabet, Azzedine Aboura and Alain Verloes

    Version of Record online : 2 APR 2015, DOI: 10.1002/ajmg.a.36932

  18. 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

  19. You have full text access to this OnlineOpen article
    MafB deficiency accelerates the development of obesity in mice

    FEBS Open Bio

    Volume 6, Issue 6, June 2016, Pages: 540–547, Mai Thi Nhu Tran, Michito Hamada, Megumi Nakamura, Hyojung Jeon, Risa Kamei, Yuki Tsunakawa, Kaushalya Kulathunga, Yuan-Yu Lin, Kumiko Fujisawa, Takashi Kudo and Satoru Takahashi

    Version of Record online : 21 APR 2016, DOI: 10.1002/2211-5463.12058

  20. You have free access to this content
    Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2860–2872, Fiorella Gurrieri and David B. Everman

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36239