American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 6

June 2014

Volume 164, Issue 6

Pages C1–C1, fm i–fm vi, vii–x, 1347–1618

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
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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 Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
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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 Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. You have free access to this content
    2. You have free access to this content
    3. You have free access to this content
  4. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Development of the human heart (pages 1347–1371)

      Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

      Version of Record online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35896

  5. Research Article

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts (pages 1384–1393)

      Antonie D. Kline, Anne L. Calof, Cheri A. Schaaf, Ian D. Krantz, Soma Jyonouchi, Kyoko Yokomori, Maria Gauze, Cheri S. Carrico, Julie Woodman, Jennifer L. Gerton, Hugo Vega, Alex V. Levin, Katsuhiko Shirahige, Michele Champion, Marjorie T. Goodban, Julia T. O'Connor, Mary Pipan, Julia Horsfield, Matthew A. Deardorff, Stacey L. Ishman and Dale Dorsett

      Version of Record online: 6 FEB 2014 | DOI: 10.1002/ajmg.a.36417

  7. Frameshifts

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Autism traits in children and adolescents with Cornelia de Lange syndrome (pages 1400–1410)

      Siddharth Srivastava, Colleen Landy-Schmitt, Bennett Clark, Antonie D. Kline, Matt Specht and Marco A. Grados

      Version of Record online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36573

    2. Outfoxed by RBFOX1-A caution about ascertainment bias (pages 1411–1418)

      Benjamin Kamien, Anath C. Lionel, Nicole Bain, Stephen W. Scherer and Matthew Hunter

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36458

    3. Holt–Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation (pages 1419–1424)

      Anwar Baban, Letizia Pitto, Silvia Pulignani, Monica Cresci, Laura Mariani, Carolina Gambacciani, Maria Cristina Digilio, Giacomo Pongiglione and Sonia Albanese

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36459

    4. Craniofacial and dental development in Costello syndrome (pages 1425–1430)

      Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen and Ophir D. Klein

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36475

    5. Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis (pages 1431–1437)

      Vanessa L. Merker, Miriam A. Bredella, Wenli Cai, Ara Kassarjian, Gordon J. Harris, Alona Muzikansky, Rosa Nguyen, Victor F. Mautner and Scott R. Plotkin

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36466

    6. Lymphedema in tuberous sclerosis complex (pages 1438–1442)

      Alexandra L. Geffrey, Julianna E. Shinnick, Brigid A. Staley, Susana Boronat and Elizabeth A. Thiele

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36469

    7. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations (pages 1443–1453)

      Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli and Ashwin Dalal

      Version of Record online: 27 MAR 2014 | DOI: 10.1002/ajmg.a.36489

    8. Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk (pages 1454–1463)

      Mary M. Jenkins, Jennita Reefhuis, Margaret L. Gallagher, Jennifer G. Mulle, Thomas J. Hoffmann, Deborah A. Koontz, Cynthia Sturchio, Sonja A. Rasmussen, John S. Witte, Patricia Richter, Margaret A. Honein and the National Birth Defects Prevention Study

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36478

    9. Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities (pages 1464–1469)

      Carole A. Samango-Sprouse, Emily J. Stapleton, Francie L. Mitchell, Teresa Sadeghin, Thomas P. Donahue and Andrea L. Gropman

      Version of Record online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36483

  9. Research Review

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta (pages 1482–1489)

      Joshi Stephen, Anju Shukla, Ashwin Dalal, Katta Mohan Girisha, Hitesh Shah, Neerja Gupta, Madhulika Kabra, Preeti Dabadghao and Shubha R. Phadke

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36481

      Corrected by:

      Errata: Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

      Vol. 167, Issue 11, 2868, Version of Record online: 3 AUG 2015

    2. Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families (pages 1490–1495)

      Shabnam Peyvandi, Eitan Ingall, Stacy Woyciechowski, Jennifer Garbarini, Laura E. Mitchell and Elizabeth Goldmuntz

      Version of Record online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36500

    3. The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications (pages 1503–1511)

      Ghayda M. Mirzaa, Kathleen J. Millen, A. James Barkovich, William B. Dobyns and Alex R. Paciorkowski

      Version of Record online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36517

  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Cervical spine malformation in cornelia de lange syndrome: A report of three patients (pages 1520–1524)

      Laura Rachele Bettini, Laura Locatelli, Milena Mariani, Paola Cianci, Carlo Giussani, Francesco Canonico, Anna Cereda, Silvia Russo, Cristina Gervasini, Andrea Biondi and Angelo Selicorni

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36457

    2. Blepharo-cheilo-dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature (pages 1525–1529)

      Farouq K. Ababneh, Abdulrahman Al-Swaid, Ahmed Elhag, Talaat Youssef and Saif Alsaif

      Version of Record online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36465

    3. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability (pages 1530–1536)

      Pauline Le Tanno, Brice Poreau, Francoise Devillard, Gaëlle Vieville, Florence Amblard, Pierre-Simon Jouk, Véronique Satre and Charles Coutton

      Version of Record online: 19 MAR 2014 | DOI: 10.1002/ajmg.a.36467

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

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36471

    5. Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms (pages 1545–1549)

      Gal Finer, Heather E. Price, Richard M. Shore, Kenneth E. White and Craig B. Langman

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36476

    6. De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity (pages 1550–1554)

      Yukiko Kuroda, Ikuko Ohashi, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno and Kenji Kurosawa

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36477

    7. L1CAM whole gene deletion in a child with L1 syndrome (pages 1555–1558)

      Brandalyn A. Chidsey, Erin E. Baldwin, Reha Toydemir, Lauren Ahles, Heather Hanson and David A. Stevenson

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36474

    8. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome (pages 1559–1564)

      Antonín Šípek Jr., Lucie Grodecká, Alice Baxová, Petra Cibulková, Magdaléna Dvořáková, Stella Mazurová, Martin Magner, Jiří Zeman, Tomáš Honzík and Tomáš Freiberger

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36480

    9. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly (pages 1565–1570)

      Eissa A. Faqeih, Mohammed Al-Owain, Dilek Colak, Rosan Kenana, Yusra Al-Yafee, Mazhor Al-Dosary, Abdulaziz Al-Saman, Fadwa Albalawi, Dalia Al-Sarar, Dalia Domiaty, Maha Daghestani and Namik Kaya

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36482

    10. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency (pages 1571–1575)

      Estelle Dubruc, Audrey Putoux, Audrey Labalme, Christelle Rougeot, Damien Sanlaville and Patrick Edery

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36484

    11. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature (pages 1587–1594)

      Lindsay A. Brown, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux and Cornelius F. Boerkoel

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36490

  12. Research Review

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

    1. Top of page
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    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
    1. Chondrodysplasia punctata associated with maternal Sjögren syndrome (pages 1606–1610)

      Natalia Marin Huarte, Fernando Santos-Simarro, Ignacio Pastor Abascal, Sixto García-Miñaur and Felix Omeñaca

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36470

    2. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum (pages 1614–1617)

      Mahmoud F. Elsaid, Hussein Kamel, Nader Chalhoub, Nahla Abdel Aziz, Khalid Ibrahim, Tawfeg Ben-Omran, Binu George, Eman Al-Dous, Yasmin Mohamoud, Joel A. Malek, M. Elizabeth Ross and Alice Abdel Aleem

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36485

  14. Erratum

    1. Top of page
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    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Review
    6. Research Article
    7. Conference Report
    8. Frameshifts
    9. Research Articles
    10. Research Review
    11. Research Articles
    12. Clinical Reports
    13. Research Review
    14. Research Letters
    15. Erratum
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      Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578–584 (page 1618)

      Simone Funke, Thatjana Gardeitchik, Dorus Kouwenberg, Miski Mohamed, Saskia Wortmann, Eckhard Korsch, Maciej Adamovicz, Lihadh Al-Gazali, Ron A. Wevers, Adrien Horvath, Dirk J. Lefeber and Eva Morava

      Version of Record online: 7 MAY 2014 | DOI: 10.1002/ajmg.a.36518

      This article corrects:

      Perinatal and early infantile symptoms in congenital disorders of glycosylation1

      Vol. 161, Issue 3, 578–584, Version of Record online: 7 FEB 2013

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