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There are 7589 results for: content related to: Germline mosaicism in cornelia de lange syndrome: Dilemmas and risk figures

  1. You have free access to this content
    Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2909–2919, Cristina Gervasini, Silvia Russo, Anna Cereda, Ilaria Parenti, Maura Masciadri, Jacopo Azzollini, Daniela Melis, Teresa Aravena, Bérénice Doray, Alessandra Ferrarini, Livia Garavelli, Angelo Selicorni and Lidia Larizza

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36252

  2. Etiologies of uterine malformations

    American Journal of Medical Genetics Part A

    Adeline Jacquinet, Debra Millar and Anna Lehman

    Version of Record online : 8 JUN 2016, DOI: 10.1002/ajmg.a.37775

  3. Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3076–3081, Nicolas Lebrun, Sébastien Lebon, Pierre-Yves Jeannet, Sébastien Jacquemont, Pierre Billuart and Thierry Bienvenu

    Version of Record online : 11 SEP 2015, DOI: 10.1002/ajmg.a.37364

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    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

  5. 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

  6. You have full text access to this OnlineOpen article
    LMNA-associated cardiocutaneous progeria: An inherited autosomal dominant premature aging syndrome with late onset

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1599–1611, Megan S. Kane, Mark E. Lindsay, Daniel P. Judge, Jemima Barrowman, Colette Ap Rhys, Lisa Simonson, Harry C. Dietz and Susan Michaelis

    Version of Record online : 10 MAY 2013, DOI: 10.1002/ajmg.a.35971

  7. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1666–1674, Andrea Van Lierde, Francesca Menni, Maria Francesca Bedeschi, Federica Natacci, Sophie Guez, Paola Vizziello, Maria Antonella Costantino, Faustina Lalatta and Susanna Esposito

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35982

  8. 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

  9. 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

  10. Barber–Say syndrome and Ablepharon–Macrostomia syndrome: An overview

    American Journal of Medical Genetics Part A

    Beatrice De Maria, Laura Mazzanti, Nathalie Roche and Raoul C. Hennekam

    Version of Record online : 19 MAY 2016, DOI: 10.1002/ajmg.a.37757

  11. Elements of morphology: Standard terminology for the external genitalia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1238–1263, Raoul C.M. Hennekam, Judith E. Allanson, Leslie G. Biesecker, John C. Carey, John M. Opitz and Eric Vilain

    Version of Record online : 6 MAY 2013, DOI: 10.1002/ajmg.a.35934

  12. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 251–258, Susan A. Woods, Haynes B. Robinson, Lisa J. Kohler, Dimitris Agamanolis, George Sterbenz and Mohamed Khalifa

    Version of Record online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36237

  13. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1833–1852, Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

    Version of Record online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

  14. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1309–1318, Anthony P.Y. Liu, Wing Fai Tang, Elizabeth T. Lau, Kelvin Y.K. Chan, Anita S.Y. Kan, Kar Yin Wong, Winnie W.Y. Tso, Khair Jalal, So Lun Lee, Christy S.K. Chau and Brian H.Y. Chung

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35909

  15. Development of the human aortic arch system captured in an interactive three-dimensional reference model

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1372–1383, M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

    Version of Record online : 23 APR 2013, DOI: 10.1002/ajmg.a.35881

  16. Oculoauriculofrontonasal syndrome: Case series revealing new bony nasal anomalies in an old syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1345–1353, Kelly N. Evans, Joseph S. Gruss, Paritosh C. Khanna, Michael L. Cunningham, Timothy C. Cox and Anne V. Hing

    Version of Record online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35926

  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. Development of the human heart

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1347–1371, Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

    Version of Record online : 30 APR 2013, DOI: 10.1002/ajmg.a.35896

  19. 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

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    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