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There are 1286 results for: content related to: Focal dermal hypoplasia (goltz–gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly

  1. You have free access to this content
    CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 563–578, Brigitte C. Widemann, Maria T. Acosta, Sylvia Ammoun, Allan J. Belzberg, Andre Bernards, Jaishri Blakeley, Antony Bretscher, Karen Cichowski, D. Wade Clapp, Eva Dombi, Gareth D. Evans, Rosalie Ferner, Cristina Fernandez-Valle, Michael J. Fisher, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Robert Hennigan, Susan Huson, David Ingram, Joe Kissil, Bruce R. Korf, Eric Legius, Roger J. Packer, Andrea I McClatchey, Frank McCormick, Kathryn North, Minja Pehrsson, Scott R. Plotkin, Vijaya Ramesh, Nancy Ratner, Susann Schirmer, Larry Sherman, Elizabeth Schorry, David Stevenson, Douglas R. Stewart, Nicole Ullrich, Annette C. Bakker and Helen Morrison

    Article first published online : 17 JAN 2014, DOI: 10.1002/ajmg.a.36312

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    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

    Article first published online : 2 AUG 2013, DOI: 10.1002/ajmg.a.36072

  3. 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

    Article first published online : 27 JUN 2013, DOI: 10.1002/ajmg.a.35996

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    Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1713–1733, Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E.R. Parker, Cathy Blumhorst, Thomas Darling, Laura L. Tosi, Susan M. Huson, Richard W. Whitehouse, Eveliina Jakkula, Ian Grant, Meena Balasubramanian, Kate E. Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin Clark, Elizabeth A. Sellars, Loren DM Pena, Vidya Krishnamurty, Andrew Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasic, John M. Graham Jr., Joseph Geer Jr., Alex Henderson, Robert K. Semple and Leslie G. Biesecker

    Article first published online : 29 APR 2014, DOI: 10.1002/ajmg.a.36552

  5. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 7, July 2014, Pages: 1666–1676, Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Mafalda Mucciolo, Annabella Marozza, Chiara Di Marco, Antonio Massarelli, Valentina Canocchi, Margherita Baldassarri, Enea Ndoni, Elisa Frullanti, Sonia Amabile, Britt Marie Anderlid, Kay Metcalfe, Cédric Le Caignec, Albert David, Alan Fryer, Odile Boute, Andrieux Joris, Donatella Greco, Vanna Pecile, Roberta Battini, Antonio Novelli, Marco Fichera, Corrado Romano, Francesca Mari and Alessandra Renieri

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.a.36513

  6. 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

    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

    Article first published online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36807

  7. New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1965–1975, Marie-Laure Vuillaume, Sophie Naudion, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, Dorothée Cailley, Julie Bouron, Jérôme Toutain, Georges Bourrouillou, Adeline Vigouroux, Laurence Bouneau, Fabienne Nacka, Isabelle Kieffer, Benoit Arveiler, Anja Knoll-Gellida, Patrick J. Babin, Eric Bieth, Béatrice Jouret, Sophie Julia, Pierre Sarda, David Geneviève, Laurence Faivre, Didier Lacombe, Pascal Barat, Maithé Tauber, Marie-Ange Delrue and Caroline Rooryck

    Article first published online : 29 APR 2014, DOI: 10.1002/ajmg.a.36587

  8. GALNS mutations in Indian patients with mucopolysaccharidosis IVA

    American Journal of Medical Genetics Part A

    Volume 164, Issue 11, November 2014, Pages: 2793–2801, Abdul Mueed Bidchol, Ashwin Dalal, Hitesh Shah, Suryanarayana S, Sheela Nampoothiri, Madhulika Kabra, Neerja Gupta, Sumita Danda, Kalpana Gowrishankar, Shubha R. Phadke, Seema Kapoor, Mahesh Kamate, I.C. Verma, Ratna Dua Puri, V.H. Sankar, A. Radha Rama Devi, S.J. Patil, Prajnya Ranganath, S. Jamal Md Nurul Jain, Meenal Agarwal, Ankur Singh, Pallavi Mishra, Parag M. Tamhankar, Puthiya Mundyat Gopinath, H.A. Nagarajaram, Kapaettu Satyamoorthy and Katta Mohan Girisha

    Article first published online : 22 SEP 2014, DOI: 10.1002/ajmg.a.36735

  9. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1899–1908, Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Mari Matsuo, Yuka Suzuki, Kiyoko Sameshima, Reiko Kimura, Yuto Yamamoto, Daisuke Fukushi, Yayoi Fukuhara, Naoko Ishihara, Eriko Nishi, George Imataka, Hiroshi Suzumura, Shin-Ichiro Hamano, Kenji Shimizu, Mie Iwakoshi, Kazunori Ohama, Akira Ohta, Hiroyuki Wakamoto, Mitsuharu Kajita, Kiyokuni Miura, Kenji Yokochi, Kenjiro Kosaki, Tatsuo Kuroda, Rika Kosaki, Yoko Hiraki, Kayoko Saito, Seiji Mizuno, Kenji Kurosawa, Nobuhiko Okamoto and Nobuaki Wakamatsu

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36551

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    Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2972–2980, Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Childhood Overgrowth Consortium and Nazneen Rahman

    Article first published online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36229

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    Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

    American Journal of Medical Genetics Part A

    Volume 161, Issue 6, June 2013, Pages: 1221–1237, Tomoki Kosho, Nobuhiko Okamoto, Hirofumi Ohashi, Yoshinori Tsurusaki, Yoko Imai, Yumiko Hibi-Ko, Hiroshi Kawame, Tomomi Homma, Saori Tanabe, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Tohru Ohta, Norio Niikawa, Seiji Mizuno, Tadashi Kaname, Kenji Naritomi, Yoko Narumi, Keiko Wakui, Yoshimitsu Fukushima, Satoko Miyatake, Takeshi Mizuguchi, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto

    Article first published online : 1 MAY 2013, DOI: 10.1002/ajmg.a.35933

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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

  13. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 627–633, Adeline Vanderver, Davide Tonduti, Ilana Kahn, Johanna Schmidt, Livija Medne, Jodie Vento, Kimberly A. Chapman, Brendan Lanpher, Phillip Pearl, Andrea Gropman, Charles Lourenco, John-Steven Bamforth, Cynthia Sharpe, Mercédes Pineda, Jens Schallner, Olaf Bodamer, Simona Orcesi, Saskia A. J. Lesnik Oberstein, Erik A. Sistermans, Helger G. Yntema, Carsten Bonnemann, Amy T. Waldman and Marjo S. van der Knaap

    Article first published online : 20 DEC 2013, DOI: 10.1002/ajmg.a.36309

  14. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1950–1960, Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

    Article first published online : 24 JUN 2013, DOI: 10.1002/ajmg.a.35960

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    Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1929–1939, Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

    Article first published online : 26 JUN 2013, DOI: 10.1002/ajmg.a.36045

  16. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3035–3041, Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis, Ivo de Blaauw, Rolph Pfundt, Iris A.L.M. van Rooij, Enrika Bartels, Alina Hilger, Ekkehart Jenetzky, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rißmann, Markus M. Nöthen, Nadine Zwink, Michael Ludwig and Heiko Reutter

    Article first published online : 16 AUG 2013, DOI: 10.1002/ajmg.a.36153

  17. 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

    Article first published online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35749

  18. Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2161–2171, Cathryn J. Poulton, Rachel Schot, Katja Seufert, Maarten H. Lequin, Andrea Accogli, Giuseppe D' Annunzio, Laurent Villard, Nicole Philip, René de Coo, Coriene Catsman-Berrevoets, Ute Grasshoff, Anja Kattentidt-Mouravieva, Hans Calf, Erika de Vreugt-Gronloh, Leontine van Unen, Frans W. Verheijen, Niels Galjart, Deborah J. Morris-Rosendahl and Grazia M. S. Mancini

    Article first published online : 19 MAY 2014, DOI: 10.1002/ajmg.a.36611

  19. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1537–1544, Alice Masurel-Paulet, Isabelle Drumare, Muriel Holder, Jean-Marie Cuisset, Louis Vallée, Sabine Defoort, Béatrice Bourgois, Philippe Pernes, Jean-Christophe Cuvellier, Frédéric Huet, Salima El Chehadeh, Julien Thevenon, Patrick Callier, Christel Thauvin, Laurence Faivre and Joris Andrieux

    Article first published online : 25 MAR 2014, DOI: 10.1002/ajmg.a.36471

  20. Fraser Syndrome: Epidemiological Study in a European Population

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1012–1018, Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Patricia A. Boyd, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Anna Latos-Bielenska, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Annette Queisser-Luft, Christine Verellen-Dumoulin, David Stone and Romano Tenconi

    Article first published online : 26 MAR 2013, DOI: 10.1002/ajmg.a.35839