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There are 3793 results for: content related to: Erratum: In the article by Gene S. Fisch, entitled “Nosology and Epidemiology in Autism: Classification Counts,” in. American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 160C:91–103 10.1002/ajmg.c.31325 (2012)

  1. 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

    Article first published online : 5 AUG 2013, DOI: 10.1002/ajmg.a.36098

  2. 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

    Article first published online : 3 APR 2014, DOI: 10.1002/ajmg.a.36511

  3. 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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    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

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    Elements of morphology: General terms for congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2726–2733, Raoul C. Hennekam, Leslie G. Biesecker, Judith E. Allanson, Judith G. Hall, John M. Opitz, I Karen Temple, John C. Carey and Elements of Morphology Consortium

    Article first published online : 3 OCT 2013, DOI: 10.1002/ajmg.a.36249

  6. A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 2088–2094, Roseli Maria Zechi-Ceide, Priscila Padilha Moura, Salmo Raskin, Antonio Richieri-Costa and Maria Leine Guion-Almeida

    Article first published online : 9 JUL 2013, DOI: 10.1002/ajmg.a.36057

  7. 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

    Article first published online : 6 NOV 2013, DOI: 10.1002/ajmg.a.36315

  8. Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2369–2375, Ascensión Vera-Carbonell, Vanesa López-González, Juan Antonio Bafalliu, Juan Piñero-Fernández, Joaquín Susmozas, Moisés Sorli, Rocío López-Pérez, Asunción Fernández, Encarna Guillén-Navarro and Isabel López-Expósito

    Article first published online : 25 JUL 2013, DOI: 10.1002/ajmg.a.36103

  9. Enamel-renal-gingival syndrome and FAM20A mutations

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 1–9, Piranit Nik Kantaputra, Massupa Kaewgahya, Udomrat Khemaleelakul, Prapai Dejkhamron, Suchitra Sutthimethakorn, Visith Thongboonkerd and Anak Iamaroon

    Article first published online : 20 NOV 2013, DOI: 10.1002/ajmg.a.36187

  10. Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 2084–2090, Francesca Novara, Franco Stanzial, Elena Rossi, Francesco Benedicenti, Francesca Inzana, Eleonora Di Gregorio, Alfredo Brusco, Jesper Graakjaer, Christina Fagerberg, Elga Belligni, Margherita Silengo, Orsetta Zuffardi and Roberto Ciccone

    Article first published online : 12 MAY 2014, DOI: 10.1002/ajmg.a.36591

  11. Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: Further delineation of an emerging syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 8, August 2014, Pages: 1916–1922, Michiala Cafferkey, Joo Wook Ahn, Frances Flinter and Caroline Ogilvie

    Article first published online : 8 APR 2014, DOI: 10.1002/ajmg.a.36554

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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

    Article first published online : 24 OCT 2014, DOI: 10.1002/ajmg.a.36833

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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

  14. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3170–3175, Nadja Ehmke, Nima Parvaneh, Peter Krawitz, Mahmoud-Reza Ashrafi, Parviz Karimi, Mehrzad Mehdizadeh, Ulrike Krüger, Jochen Hecht, Stefan Mundlos and Peter N. Robinson

    Article first published online : 20 OCT 2014, DOI: 10.1002/ajmg.a.36772

  15. 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

    Article first published online : 29 OCT 2013, DOI: 10.1002/ajmg.a.36188

  16. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: Evidence of haploinsufficiency due to nonsense-mediated mRNA decay

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 476–479, Shigeru Suzuki, Atsushi Nakao, Ashoor R. Sarhat, Akiko Furuya, Kumihiro Matsuo, Yusuke Tanahashi, Hiroki Kajino and Hiroshi Azuma

    Article first published online : 5 DEC 2013, DOI: 10.1002/ajmg.a.36275

  17. 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

    Article first published online : 21 JAN 2015, DOI: 10.1002/ajmg.a.36922

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    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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    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

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    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

    Article first published online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36395