American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 4

April 2014

Volume 164, Issue 4

Pages C1–C1, fm i–fm vi, vii–x, 859–1083

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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    2. You have free access to this content
    3. You have free access to this content
      In this issue (page x)

      Article first published online: 17 MAR 2014 | DOI: 10.1002/ajmg.a.36538

  4. Research Article

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
  5. Conference Report

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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  6. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
    1. Proposed regulations for research with biospecimens: Responses from stakeholders at CTSA consortium institutions (pages 892–897)

      Jeffrey R. Botkin, Rebecca Anderson, Tom Murray, Laura M. Beskow, Karen Maschke and Leona Cuttler

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36365

    2. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia (pages 898–906)

      Katta M. Girisha, Abdul Mueed Bidchol, Preeti S. Kamath, Krupa H. Shah, Geert R. Mortier, Stefan Mundlos and Hitesh Shah

      Article first published online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36367

    3. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene (pages 907–914)

      Verity L. Hartill, Carolyn Tysoe, Nigel Manning, Angus Dobbie, Saikat Santra, John Walter, Richard Caswell, Janet Koster, Hans Waterham and Emma Hobson

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36368

    4. Duplication at Xq13.3–q21.1 with syndromic intellectual disability, a probable role for the ATRX gene (pages 918–923)

      Francisco Martínez, Mónica Roselló, Sonia Mayo, Sandra Monfort, Silvestre Oltra and Carmen Orellana

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36371

    5. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2 (pages 924–933)

      Daisuke Fukushi, Kenichiro Yamada, Noriko Nomura, Misako Naiki, Reiko Kimura, Yasukazu Yamada, Toshiyuki Kumagai, Kumiko Yamaguchi, Yoshishige Miyake and Nobuaki Wakamatsu

      Article first published online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36373

    6. Behavioral Profile in RASopathies (pages 934–942)

      Paolo Alfieri, Giorgia Piccini, Cristina Caciolo, Francesca Perrino, Maria Luigia Gambardella, Maria Mallardi, Laura Cesarini, Chiara Leoni, Daniela Leone, Chiara Fossati, Angelo Selicorni, Maria Cristina Digilio, Marco Tartaglia, Eugenio Mercuri, Giuseppe Zampino and Stefano Vicari

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36374

    7. Epidemiologic features of male genital malformations and subtypes in Texas (pages 943–949)

      A.J. Agopian, Peter H. Langlois, Anushuya Ramakrishnan and Mark A. Canfield

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36389

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      Gene-targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects (pages 966–974)

      Maoqing Ye, Fabienne Parente, Xiaodong Li, M. Benjamin Perryman, Leopoldo Zelante, Anthony Wynshaw-Boris, Ju Chen and Paul Grossfeld

      Article first published online: 10 MAR 2014 | DOI: 10.1002/ajmg.a.36441

  8. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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      If not Angelman, what is it? a review of Angelman-like syndromes (pages 975–992)

      Wen-Hann Tan, Lynne M. Bird, Ronald L. Thibert and Charles A. Williams

      Article first published online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36416

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
    1. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation (pages 993–997)

      Rika Kosaki, Toshiki Takenouchi, Noriko Takeda, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata and Kenjiro Kosaki

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36364

    2. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma (pages 998–1002)

      Atsushi Fujita, Nobuhiko Ochi, Hidehiko Fujimaki, Hideki Muramatsu, Yoshiyuki Takahashi, Jun Natsume, Seiji Kojima, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36369

    3. Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23 (pages 1003–1009)

      Helen L. Hanson, Meredith J. Wilson, John P. Short, Barry A. Chioza, Andrew H. Crosby, Ruth M. Nash, Karen J. Marks and Sahar Mansour

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36375

    4. A second family with autosomal recessive spondylometaphyseal dysplasia and early death (pages 1010–1014)

      André Mégarbané, Cybel Mehawej, Amir El Zahr, Soha Haddad and Valérie Cormier-Daire

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36372

    5. Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation (pages 1015–1020)

      Giancarlo Gargano, Isotta Guidotti, Eleonora Balestri, Federica Vagnarelli, Simonetta Rosato, Giuseppina Comitini, Anita Wischmeijer, Giovanni Battista La Sala, Lorenzo Iughetti, Viviana Cordeddu, Cesare Rossi, Marco Tartaglia and Livia Garavelli

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36376

    6. A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay (pages 1021–1028)

      Ryoko Fukai, Yoko Hiraki, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36377

    7. MECP2 duplication: Possible cause of severe phenotype in females (pages 1029–1034)

      Jessica Scott Schwoerer, Jennifer Laffin, Joanne Haun, Gordana Raca, Michael J. Friez and Philip F. Giampietro

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36380

    8. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis (pages 1035–1040)

      Katta M. Girisha, Hengameh Abdollahpour, Hitesh Shah, Gandham SriLakshmi Bhavani, John M. Graham Jr., Vijay Raju Boggula, Shubha R. Phadke and Kerstin Kutsche

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36381

    9. Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations (pages 1041–1048)

      P. Kantaputra, M. Kaewgahya, D. Jotikasthira and W. Kantaputra

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36388

    10. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract (pages 1049–1055)

      Ellyze Van Asbeck, David F.G.J. Wolthuis, Miski Mohamed, Ron A. Wevers, Cristoph G. Korenke, Thatjana Gardeitchik and Eva Morava

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36392

    11. The smallest de novo deletion of 20q11.21–q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities (pages 1056–1061)

      Renata Posmyk, Ryszard Leśniewicz, Magdalena Gogiel, Monika Chorąży, Alina Bakunowicz-Łazarczyk, Danuta Sielicka, Joris Vermeesch and Beata Anna Nowakowska

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36394

    12. Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis (pages 1062–1068)

      K. Nicole Weaver, Moussa El Hallek, Robert J. Hopkin, Kristen L. Sund, Michael Henrickson, Daniela del Gaudio, Adnan Yuksel, Gül Ozbilen Acar, Michael B. Bober, Jinoh Kim and Simeon A. Boyadjiev

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36390

    13. Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis (pages 1069–1074)

      Monika Thapa, Alexander Asamoah, Gordon C. Gowans, Kathryn C. Platky, Margaret J. Barch, Patricia Mouchrani, Cecilia Rajakaruna and Joseph H. Hersh

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36396

  10. Research Letter

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
    1. Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia (pages 1075–1078)

      Mónica Martínez García, Camilo Velez, María Fenollar-Cortés, Ana Bustamante, Isabel Lorda-Sanchez, Leandro Soriano-Guillén and María-José Trujillo-Tiebas

      Article first published online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36378

  11. Clinical Report

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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      Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication (pages 1079–1082)

      Lois J. Starr, Jennifer N. Sanmann, Ann Haskins Olney, Melissa Wandoloski, Warren G. Sanger and Donald W. Coulter

      Article first published online: 4 MAR 2014 | DOI: 10.1002/ajmg.a.36432

  12. Corrigendum

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Article
    6. Conference Report
    7. Research Review
    8. Research Articles
    9. Research Review
    10. Clinical Reports
    11. Research Letter
    12. Clinical Report
    13. Corrigendum
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