American Journal of Medical Genetics Part A

Cover image for Vol. 161 Issue 2

February 2013

Volume 161, Issue 2

Pages C1–C1, fm i–fm iv, vii–x, 237–403

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
      In this issue (page x)

      Version of Record online: 24 JAN 2013 | DOI: 10.1002/ajmg.a.35857

  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content
      A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4–p11.21 (pages 237–243)

      María C. Barboza-Cerda, Luis D. Campos-Acevedo, Roberto Rangel, Laura E. Martínez-de-Villarreal and Miguel A. Déctor

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35743

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome (pages 244–253)

      Joyce M.G. Florisson, Irene M.J. Mathijssen, Belinda Dumee, Jeannette A.M. Hoogeboom, Pino J. Poddighe, Ben A. Oostra, Jean Pierre Frijns, Linda Koster, Annelies de Klein, Bert Eussen, Bert B.A. de Vries, Sigrid Swagemakers, Peter J. van der Spek and Annemieke J.M.H. Verkerk

      Version of Record online: 9 JAN 2013 | DOI: 10.1002/ajmg.a.35632

    2. Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders (pages 254–260)

      Nadia Abdelmalik, Mieke van Haelst, Grazia Mancini, Connie Schrander-Stumpel, Dominique Marcus-Soekarman, Raoul Hennekam and Dr. Jan Maarten Cobben

      Version of Record online: 9 JAN 2013 | DOI: 10.1002/ajmg.a.35672

    3. Characteristics and associated anomalies in radial ray deficiencies in Finland—A population-based study (pages 261–267)

      Niklas Pakkasjärvi, Eeva Koskimies, Annukka Ritvanen, Yrjänä Nietosvaara and Outi Mäkitie

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35707

    4. Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences (pages 268–272)

      Jeannie Visootsak, Natalie Ayari, Susan Howell, Joash Lazarus and Nicole Tartaglia

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35709

    5. Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype (pages 273–284)

      Duccio Maria Cordelli, Livia Garavelli, Salvatore Savasta, Azzurra Guerra, Alessandro Pellicciari, Lucio Giordano, Silvia Bonetti, Ilaria Cecconi, Anita Wischmeijer, Marco Seri, Simonetta Rosato, Chiara Gelmini, Elvio Della Giustina, Anna Rita Ferrari, Nicoletta Zanotta, Roberta Epifanio, Daniele Grioni, Baris Malbora, Isabella Mammi, Francesca Mari, Sabrina Buoni, Rosa Mostardini, Salvatore Grosso, Chiara Pantaleoni, Morena Doz, Maria Luisa Poch-Olivé, Francesca Rivieri, Giovanni Sorge, Graziella Simonte, Francesca Licata, Luigi Tarani, Emanuela Terazzi, Laura Mazzanti, Paola Cerruti Mainardi, Antonella Boni, Francesca Faravelli, Marina Grasso, Paolo Bianchi, Marcella Zollino and Emilio Franzoni

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35717

    6. Complex II deficiency—A case report and review of the literature (pages 285–294)

      Shailly Jain-Ghai, Jessie M. Cameron, Almundher Al Maawali, Susan Blaser, Nevena MacKay, Brian Robinson and Julian Raiman

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35714

    7. Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9 (pages 295–300)

      Johanna Christina Czeschik, Claudia Voigt, Timm O. Goecke, Hermann-Josef Lüdecke, Nicholas Wagner, Alma Kuechler and Dagmar Wieczorek

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35735

    8. Maternal attitudes to newborn screening for fragile X syndrome (pages 301–311)

      Louise Christie, Tiffany Wotton, Bruce Bennetts, Veronica Wiley, Bridget Wilcken, Carolyn Rogers, Jackie Boyle, Catherine Turner, Jessica Hansen, Matthew Hunter, Himanshu Goel and Michael Field

      Version of Record online: 9 JAN 2013 | DOI: 10.1002/ajmg.a.35752

    9. Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes (pages 312–319)

      Béatrice Thouvenin, Juliette Djadi-Prat, Christel Chalouhi, Sébastien Pierrot, Stanislas Lyonnet, Gérard Couly and Véronique Abadie

      Version of Record online: 9 JAN 2013 | DOI: 10.1002/ajmg.a.35773

    10. Four new patients with Gomez–Lopez-Hernandez syndrome and proposed diagnostic criteria (pages 320–326)

      Eric T. Rush, Margaret P. Adam, Robin D. Clark, Cynthia Curry, Julianne E. Hartmann, William B. Dobyns and Ann Haskins Olney

      Version of Record online: 4 JAN 2013 | DOI: 10.1002/ajmg.a.35817

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. A boy with partial trisomy of chromosome 3q24–q28 from paternal balanced insertion and multiple congenital anomalies (pages 327–330)

      Haiyan Zhu, Yali Hu, Ruifang Zhu, Ying Yang, Xiangyu Zhu and Wanjun Wang

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35637

    2. Jacobsen and Beckwith–Wiedemann syndromes in a child with mosaicism for partial 11pter trisomy and partial 11qter monosomy (pages 331–337)

      Audrey Putoux, Audrey Labalme, Jean-Marie André, Marianne Till, Caroline Schluth-Bolard, Jérôme Berard, Yves Bertrand, Patrick Edery, Guy Putet and Damien Sanlaville

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35708

    3. Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C (pages 338–342)

      Julie Vogt, Shakti Agrawal, Zala Ibrahim, Taunton R. Southwood, Sunny Philip, Lesley MacPherson, Malini V. Bhole, Yanick J. Crow and Christine Oley

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35712

    4. Pure de novo partial trisomy 6p in a girl with craniosynostosis (pages 343–351)

      Konstantinos Varvagiannis, Amalia Stefanidou, Yolanda Gyftodimou, Helen Lord, Louise Williams, Catherine Sarri, Efi Pandelia, Euterpe Bazopoulou-Kyrkanidou, Charlotte Noakes, Tracy Lester, Andrew O.M. Wilkie and Michael B. Petersen

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35727

    5. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature (pages 352–359)

      Tatjana Bierhals, Satish Babu Maddukuri, Kerstin Kutsche and Katta Mohan Girisha

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35730

    6. Singleton–Merten syndrome: An autosomal dominant disorder with variable expression (pages 360–370)

      Annette Feigenbaum, Christine Müller, Christopher Yale, Johannes Kleinheinz, Peter Jezewski, Hans Gerd Kehl, Mary MacDougall, Frank Rutsch and Raoul C.M. Hennekam

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35732

    7. A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome (pages 371–376)

      Brittney Murray, Rohan Wagle, Nuria Amat-Alarcon, Alisha Wilkens, Paul Stephens, Elaine H. Zackai, Elizabeth Goldmuntz, Hugh Calkins, Matthew A. Deardorff and Daniel P. Judge

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35733

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay (pages 377–381)

      Hussam Al-Kateb, Joshua S Shimony, Marisa Vineyard, Linda Manwaring, Shashikant Kulkarni and Marwan Shinawi

      Version of Record online: 8 JAN 2013 | DOI: 10.1002/ajmg.a.35650

    2. Germline mutations in FGF receptors and medulloblastomas (pages 382–385)

      Franck Bourdeaut, Catherine Miquel, Federico Di Rocco, Camille Grison, Wilfrid Richer, Laurence Brugieres, Gaelle Pierron, Syril James, Genevieve Baujat, Olivier Delattre and Corinne Collet

      Version of Record online: 16 JAN 2013 | DOI: 10.1002/ajmg.a.35719

    3. Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis (pages 386–388)

      Claudia Cesaretti, Giulia Melloni, Donatella Quagliarini, Roberto Fogliani, Barbara Zaina, Maria Francesca Bedeschi, Faustina Lalatta, Laura Trespidi and Federica Natacci

      Version of Record online: 16 JAN 2013 | DOI: 10.1002/ajmg.a.35720

    4. A new NF1 variant in a patient with atypical manifestations (pages 389–392)

      Adedayo A. Onitilo and Jessica M. Engel

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35728

    5. Exercise capacity impairment in individuals with neurofibromatosis type 1 (pages 393–395)

      Juliana Ferreira de Souza, Christiano Gonçalves Araújo, Nilton Alves de Rezende and Luiz Oswaldo Carneiro Rodrigues

      Version of Record online: 10 JAN 2013 | DOI: 10.1002/ajmg.a.35729

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. How to describe the clinical spectrum in Pompe disease? (pages 399–400)

      Deniz Güngör and Arnold J.J. Reuser

      Version of Record online: 8 JAN 2013 | DOI: 10.1002/ajmg.a.35662

    2. Response to the letter “How to describe the clinical spectrum in Pompe disease?” (pages 401–402)

      Alexandra A. Beckemeyer, Nancy J. Mendelsohn and Priya S. Kishnani

      Version of Record online: 14 JAN 2013 | DOI: 10.1002/ajmg.a.35668

  9. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content

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