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There are 101024 results for: content related to: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

  1. 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

  2. Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome-like features

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3137–3143, Kosuke Izumi, Ryan Housam, Chirag Kapadia, Virginia A. Stallings, Livija Medne, Tamim H. Shaikh, Bassil M. Kublaoui, Elaine H. Zackai and Adda Grimberg

    Version of Record online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36149

  3. PECONPI: A novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2134–2147, Ellen A. Tsai, Micah A. Berman, Laura K. Conlin, Heidi L. Rehm, Lauren J. Francey, Matthew A. Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M. Clark, Joseph T. Glessner, Shane T. Jensen, Struan F.A. Grant, Peter J. Gruber, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

    Version of Record online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36038

  4. Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 111–122, Mathilde Nizon, Joris Andrieux, Caroline Rooryck, Marie-Christine de Blois, Emilie Bourel-Ponchel, Béatrice Bourgois, Odile Boute, Albert David, Bruno Delobel, Bénédicte Duban-Bedu, Fabienne Giuliano, Alice Goldenberg, Sarah Grotto, Delphine Héron, Houda Karmous-Benailly, Boris Keren, Didier Lacombe, Jean-Michel Lapierre, Cédric Le Caignec, Eric Le Galloudec, Martine Le Merrer, Anne-Gaëlle Le Moing, Michèle Mathieu-Dramard, Sylvie Nusbaum, Olivier Pichon, Lucile Pinson, Odile Raoul, Marlène Rio, Serge Romana, Agnès Roubertie, Laurence Colleaux, Catherine Turleau, Michel Vekemans, Rima Nabbout and Valérie Malan

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36807

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    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

  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

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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

  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. 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

  10. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 10, October 2013, Pages: 2420–2430, Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley and Katia Sol-Church

    Version of Record online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36098

  11. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 461–475, Paulien A. Terhal, Rutger Jan A. J. Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen E. H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton-Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra-Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa M. Lees, Louise C. Wilson, Alison Male, Jane Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M. H. F. Bongers, Valerie Cormier-Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder-Espinasse, Nicolette den Hollander, Tessa Homfray, Hanne D. Hove, Susan Price, Annick Raas-Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine V. Knoers, Paul Coucke and Geert R. Mortier

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36922

  12. 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

  13. Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2148–2157, Emily Gallant, Lauren Francey, Ellen A. Tsai, Micah Berman, Yaru Zhao, Heather Fetting, Maninder Kaur, Matthew A. Deardorff, Alisha Wilkens, Dinah Clark, Hakon Hakonarson, Heidi L. Rehm and Ian D. Krantz

    Version of Record online : 19 JUL 2013, DOI: 10.1002/ajmg.a.36042

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    Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 617–620, Mindy H. Li, Moriah Eberhard, Pamela Mudd, Luv Javia, Robert Zimmerman, Nahla Khalek and Elaine H. Zackai

    Version of Record online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36915

  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. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 271–281, Karen W. Gripp, Katherine M. Robbins, Nara L. Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Makitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley and Katia Sol-Church

    Version of Record online : 13 NOV 2014, DOI: 10.1002/ajmg.a.36863

  17. Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2294–2299, Eric R. Londin, Jeffrey Adijanto, Nancy Philp, Antonio Novelli, Emilia Vitale, Chiara Perria, Gigliola Serra, Viola Alesi, Saul Surrey and Paolo Fortina

    Version of Record online : 4 JUN 2014, DOI: 10.1002/ajmg.a.36629

  18. 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

  19. 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

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    International guidelines for the management and treatment of Morquio A syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 11–25, Christian J. Hendriksz, Kenneth I. Berger, Roberto Giugliani, Paul Harmatz, Christoph Kampmann, William G. Mackenzie, Julian Raiman, Martha Solano Villarreal and Ravi Savarirayan

    Version of Record online : 24 OCT 2014, DOI: 10.1002/ajmg.a.36833