American Journal of Medical Genetics Part A

Cover image for Vol. 158A Issue 12

December 2012

Volume 158A, Issue 12

Pages C1–C1, fm i–fm iv, vii–x, 2981–3214

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    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. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    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 Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
  5. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases (pages 3002–3017)

      Alisha Wilkens, Hongbin Liu, Kristen Park, Lindsey B. Campbell, Marie Jackson, Anna Kostanecka, Mary Pipan, Kosuke Izumi, Phillip Pallister and Ian D. Krantz

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35722

    2. Seizure characteristics in Pallister–Killian syndrome (pages 3026–3032)

      Meghan S. Candee, John C. Carey, Ian D. Krantz and Francis M. Filloux

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35567

    3. Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region (pages 3033–3045)

      Kosuke Izumi, Laura K. Conlin, Donna Berrodin, Christopher Fincher, Alisha Wilkens, Chad Haldeman-Englert, Sulagna C. Saitta, Elaine H. Zackai, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35500

    4. Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister–Killian syndrome (pages 3046–3053)

      Laura K. Conlin, Maninder Kaur, Kosuke Izumi, Lindsey Campbell, Alisha Wilkens, Dinah Clark, Matthew A. Deardorff, Elaine H. Zackai, Phillip Pallister, Hakon Hakonarson, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35726

  7. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
  8. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. Increased risk of breast cancer in women with NF1 (pages 3056–3060)

      Sara Aileen Madanikia, Amanda Bergner, Xiaobu Ye and Jaishri O'Neill Blakeley

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35550

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
  10. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
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      Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: New syndrome? (pages 3065–3070)

      Shubha R. Phadke, Prajnya Ranganath, Vijay Raju Boggula, Divya Gupta, Rajendra V. Phadke, Melissa Sloman and Peter D. Turnpenny

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35607

  11. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. Speech and hearing in adults with 22q11.2 deletion syndrome (pages 3071–3079)

      Christina Persson, Vanda Friman, Sólveig Óskarsdóttir and Radi Jönsson

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35589

    2. Clinical geneticists' views of VACTERL/VATER association (pages 3087–3100)

      Benjamin D. Solomon, Kelly A. Bear, Virginia Kimonis, Annelies de Klein, Daryl A. Scott, Charles Shaw-Smith, Dick Tibboel, Heiko Reutter and Philip F. Giampietro

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35638

    3. Functional independence of Taiwanese children with VACTERL association (pages 3101–3105)

      Hsin-Yi Lin, Shuan-Pei Lin, Hsiang-Yu Lin, Chyong-Hsin Hsu, Jui-Hsing Chang, Hsin-An Kao, Han-Yang Hung, Chun-Chih Peng, Hung-Chang Lee, Ming-Ren Chen and Jeng-Daw Tsai

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.33643

    4. Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations (pages 3112–3118)

      Jun-ichi Takanashi, Nobuhiko Okamoto, Yuto Yamamoto, Shin Hayashi, Hiroshi Arai, Yukitoshi Takahashi, Koichi Maruyama, Seiji Mizuno, Shuichi Shimakawa, Hiroaki Ono, Reiki Oyanagi, Satomi Kubo, A. James Barkovich and Johji Inazawa

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35640

    5. A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia (pages 3137–3147)

      Cammon B. Arrington, Steven B. Bleyl, Nori Matsunami, Neil E. Bowles, Tami I. Leppert, Bradley L. Demarest, Karen Osborne, Bradley A. Yoder, Janice L. Byrne, Joshua D. Schiffman, Donald M. Null, Robert DiGeronimo, Michael Rollins, Roger Faix, Jessica Comstock, Nicola J. Camp, Mark F. Leppert, H. Joseph Yost and Luca Brunelli

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35664

    6. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks (pages 3148–3158)

      Mauro Longoni, Kasper Lage, Meaghan K. Russell, Maria Loscertales, Omar A. Abdul-Rahman, Gareth Baynam, Steven B. Bleyl, Paul D. Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen-Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline M. Coletti, Faouzi I. Maalouf, Kristin M. Noonan, Ji H. Park, Adam A. Tracy, Charles Lee, Patricia K. Donahoe and Barbara R. Pober

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35665

  12. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
  13. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1 (pages 3168–3173)

      Christopher P. Barnett, Justin J. Mencel, Jozef Gecz, Wendy Waters, Susan M. Kirwin, Kathy M. B Vinette, Miriam Uppill and Jillian Nicholl

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35456

    2. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report (pages 3174–3181)

      Massimiliano Rossi, Audrey Labalme, Marie-Pierre Cordier, Marianne Till, Gaëlle Blanchard, Remi Dubois, Laurent Guibaud, Sophie Heissat, Etienne Javouhey, Alain Lachaux, Pierre-Yves Mure, Dorothée Ville, Patrick Edery and Damien Sanlaville

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35588

    3. An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review (pages 3182–3189)

      Orazio Palumbo, Pietro Palumbo, Teresa Palladino, Raffaella Stallone, Mattia Miroballo, Maria Rosaria Piemontese, Leopoldo Zelante and Massimo Carella

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35631

    4. Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation (pages 3196–3200)

      Michael Reschen, Usha Kini, Rebecca L. Hood, Kym M. Boycott, Jane Hurst and Christopher A. O'Callaghan

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35635

    5. A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation (pages 3201–3206)

      Milen Velinov, Ausaf Ahmad, Brigette Brown-Kipphut, Mustafa Shafiq, Jonathan Blau, Ruby Cooma, Philip Roth and M. Anwar Iqbal

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35644

  14. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review
    1. Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non-syndromic cleft lip/palate in Mexican Mestizos (pages 3207–3210)

      José A. Velázquez-Aragón, Miguel A. Alcántara-Ortigoza, Bernardette Estandia-Ortega, Miriam E. Reyna-Fabián, Carlos Cruz-Fuentes, Sandra Villagómez and Ariadna González-del Angel

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35641

  15. Book Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Invited Comments
    9. Research Articles
    10. Clinical Reports
    11. New Syndrome
    12. Research Articles
    13. Research Reviews
    14. Clinical Reports
    15. Research Letters
    16. Book Review

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