American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

April 2013

Volume 161, Issue 4

Pages C1–C1, fm i–fm vi, ix–xii, 639–920

  1. Cover Image

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

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

      Version of Record online: 20 MAR 2013 | DOI: 10.1002/ajmg.a.35949

  4. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. New therapies for treating Down syndrome require quality of life measurement (pages 639–641)

      Michael J. Goodman and Diana I. Brixner

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35705

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Changes in mortality and causes of death in the Swedish Down syndrome population (pages 642–649)

      Annika Englund, Björn Jonsson, Cecilia Soussi Zander, Jan Gustafsson and Göran Annerén

      Version of Record online: 22 FEB 2013 | DOI: 10.1002/ajmg.a.35706

    2. Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark (pages 650–657)

      Jin Liang Zhu, Henrik Hasle, Adolfo Correa, Diana Schendel, J.M. Friedman, Jørn Olsen and Sonja A. Rasmussen

      Version of Record online: 12 FEB 2013 | DOI: 10.1002/ajmg.a.35711

  6. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Progressive disorders and associated complications (page 658)

      Vincent M. Riccardi

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35846

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge (pages 659–666)

      Emily C. Oates, Jonathan M. Payne, Sheryl L. Foster, Nigel F. Clarke and Kathryn N. North

      Version of Record online: 20 FEB 2013 | DOI: 10.1002/ajmg.a.35840

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Neurofibromatosis type 2 in the elderly population: Clinical and molecular features (pages 667–670)

      Stéphane Goutagny, Alpha B. Bah, Béatrice Parfait, Olivier Sterkers and Michel Kalamarides

      Version of Record online: 15 JAN 2013 | DOI: 10.1002/ajmg.a.35851

  9. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia (pages 671–678)

      Julie Plaisancié, Isabelle Bailleul-Forestier, Véronique Gaston, Fréderic Vaysse, Didier Lacombe, Muriel Holder-Espinasse, Marc Abramowicz, Christine Coubes, Ghislaine Plessis, Laurence Faivre, Bénédicte Demeer, Catherine Vincent-Delorme, Hélène Dollfus, Sabine Sigaudy, Encarna Guillén-Navarro, Alain Verloes, Philippe Jonveaux, Dominique Martin-Coignard, Estelle Colin, Eric Bieth, Patrick Calvas and Nicolas Chassaing

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35747

    2. Public attitudes regarding a pilot study of newborn screening for spinal muscular atrophy (pages 679–686)

      Erin Rothwell, Rebecca A. Anderson, Kathryn J. Swoboda, Louisa Stark and Jeffrey R. Botkin

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35756

    3. Parental perspectives on the diagnostic process for Duchenne and Becker muscular dystrophy (pages 687–695)

      Sandra Daack-Hirsch, Caleb Holtzer and Christopher Cunniff

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35810

    4. Epilepsy in children with trisomy 18 (pages 696–701)

      Tomohiro Kumada, Toshiro Maihara, Yoshihisa Higuchi, Yoshinobu Nishida, Yoshihiro Taniguchi and Tatsuya Fujii

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35763

    5. Considering the vascular hypothesis for the pathogenesis of small intestinal atresia: A case control study of genetic factors (pages 702–710)

      Tanya Gupta, Wei Yang, David M. Iovannisci, Suzan L. Carmichael, David K. Stevenson, Gary M. Shaw and Edward J. Lammer

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35775

    6. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions (pages 711–716)

      Seth J. Perlman, Shashikant Kulkarni, Linda Manwaring and Marwan Shinawi

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35779

    7. Investigation of NRXN1 deletions: Clinical and molecular characterization (pages 717–731)

      Mindy Preston Dabell, Jill A. Rosenfeld, Patricia Bader, Luis F. Escobar, Dima El-Khechen, Stephanie E. Vallee, Mary Beth Palko Dinulos, Cynthia Curry, Jamie Fisher, Raymond Tervo, Mark C. Hannibal, Kiana Siefkas, Philip R. Wyatt, Lauren Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez-Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif and Lisa G. Shaffer

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35780

    8. A highly specific coding system for structural chromosomal alterations (pages 732–736)

      Prof. Dr. M.L. Martínez-Frías and M.L. Martínez-Fernández

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35787

    9. Postnatal brain and skull growth in an Apert syndrome mouse model (pages 745–757)

      Cheryl A. Hill, Neus Martínez-Abadías, Susan M. Motch, Jordan R. Austin, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier and Kristina Aldridge

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35805

    10. Barriers for integrating personalized medicine into clinical practice: A qualitative analysis (pages 758–763)

      Mehdi Najafzadeh, Jennifer C. Davis, Pamela Joshi and Carlo Marra

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35811

    11. Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins (pages 764–770)

      Toshima Parris, Ali Moussavi Nik, Sailesh Kotecha, Claire Langston, Khalil Helou, Craig Platt and Peter Carlsson

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35832

    12. Fragile X AGG analysis provides new risk predictions for 45–69 repeat alleles (pages 771–778)

      Sarah L. Nolin, Sachin Sah, Anne Glicksman, Stephanie L. Sherman, Emily Allen, Elizabeth Berry-Kravis, Flora Tassone, Carolyn Yrigollen, Amy Cronister, Marcia Jodah, Nicole Ersalesi, Carl Dobkin, W. Ted Brown, Raghav Shroff, Gary J. Latham and Andrew G. Hadd

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35833

    13. GenTAC registry report: Gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection (pages 779–786)

      Kathryn W. Holmes, Cheryl L. Maslen, Mark Kindem, Barbara L. Kroner, Howard K. Song, William Ravekes, H.C. Dietz, Jonathan W. Weinsaft, Mary J. Roman, Richard B. Devereux, Reed E. Pyeritz, Joseph Bavaria, Karianna Milewski, Dianna Milewicz, Scott A. LeMaire, Tabitha Hendershot, Kim A. Eagle, H. Eser Tolunay, Patrice Desvigne-Nickens, Michael Silberbach and for the GenTAC Registry Consortium

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35836

    14. An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma (pages 787–791)

      Hassan M. Minhas, Matthew F. Pescosolido, Matthew Schwede, Justyna Piasecka, John Gaitanis, Umadevi Tantravahi and Eric M. Morrow

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35841

    15. The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle (pages 792–802)

      Lisa C.A. D'Alessandro, Brande C. Latney, Prasuna C. Paluru and Elizabeth Goldmuntz

      Version of Record online: 20 FEB 2013 | DOI: 10.1002/ajmg.a.35849

    16. Recurrent agnathia–otocephaly caused by DNA replication slippage in PRRX1 (pages 803–808)

      Majed Dasouki, Brian Andrews, Prabhu Parimi and Deepak Kamnasaran

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35879

  10. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. You have free access to this content
      The Salernitan school of medicine: Women, men, and children. A syndromological review of the oldest medical school in the western world (pages 809–816)

      Matteo Della Monica, Roberto Mauri, Francesca Scarano, Fortunato Lonardo and Gioacchino Scarano

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35742

  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome (pages 817–821)

      Benedetta Masserini, Maria Francesca Bedeschi, Vera Bianchi, Giulietta Scuvera, Paolo Beck-Peccoz, Faustina Lalatta, Angelo Selicorni and Emanuela Orsi

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35655

    2. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype (pages 822–828)

      Rachel D. Burnside, John G. Pappas, Stephanie Sacharow, Carolyn Applegate, Ada Hamosh, Inder K. Gadi, Vikram Jaswaney, Elisabeth Keitges, Karen K. Phillips, Venketaswara R. Potluri, Hiba Risheg, Janice L. Smith, Jim H. Tepperberg, Stuart Schwartz and Peter Papenhausen

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35699

    3. GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer (pages 829–834)

      Banu Bozkurt, Mahmut Selman Yıldırım, Mehmet Okka and Gülfidan Bitirgen

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35734

    4. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome (pages 835–840)

      Mohamed Khalifa, Jennifer Stein, Lance Grau, Valery Nelson, Jeanne Meck, Swaroop Aradhya and John Duby

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35739

    5. A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14 (pages 841–844)

      Lindsay C. Burrage, Tanya N. Eble, Patricia M. Hixson, Erin K. Roney, Sau W. Cheung and Luis M. Franco

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35751

    6. Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion (pages 845–849)

      Angela Sagar, Jeffrey R. Bishop, D. Clare Tessman, Steve Guter, Christa L. Martin and Edwin H. Cook

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35754

    7. A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity (pages 850–855)

      Minobu Shichiji, Yasushi Ito, Keiko Shimojima, Hidetsugu Nakamu, Hirokazu Oguni, Makiko Osawa and Toshiyuki Yamamoto

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35768

    8. Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations (pages 856–859)

      Yoshiko Takahashi, Katsunori Fujii, Akiko Yoshida, Hiroko Morisaki, Yoichi Kohno and Takayuki Morisaki

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35776

    9. Xq22.3–q23 deletion including ACSL4 in a patient with intellectual disability (pages 860–864)

      Anastasia Gazou, Angelika Riess, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Anna Jauch, Olaf Riess and Andreas Tzschach

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35778

    10. A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome (pages 865–870)

      Miroslava Hancarova, Martina Simandlova, Jana Drabova, Katrin Mannik, Ants Kurg and Zdenek Sedlacek

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35783

    11. Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan (pages 871–874)

      Nobuhiko Haga, Masaya Kubota and Zenzo Miwa

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35803

    12. Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency (pages 875–879)

      Heng Wang, Alicia Bright, Baozhong Xin, J.R. Bockoven and Amy S. Paller

      Version of Record online: 22 FEB 2013 | DOI: 10.1002/ajmg.a.35826

    13. You have full text access to this OnlineOpen article
      Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma (pages 880–883)

      John Kuchtey, Ta Chen Chang, Lampros Panagis and Rachel W. Kuchtey

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35838

    14. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome (pages 884–888)

      Katalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, Alida C. Knegt, Éva Oláh, Bruno Dallapiccola and Guntram Borck

      Version of Record online: 22 FEB 2013 | DOI: 10.1002/ajmg.a.35848

  12. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. FOP in China and Japan: An overview from domestic literatures (pages 892–893)

      Shuang Jiao, Yasu Zhang, Wenhao Ma and Nobuhiko Haga

      Version of Record online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35771

    2. Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1q24.3 and complex chromosome rearrangement (pages 897–900)

      Yang Zhou, Qi Yao, Ying-Xia Cui, Bing Yao, Kai Fan, Xin-Yi Xia, Yu-An Hu and Xiao-Jun Li

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35782

    3. 6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome (pages 901–904)

      Shannon K. LeBlanc, Sui Yu and Christopher P. Barnett

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35804

  13. Book Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. Antisense may make sense of 1q44 deletions, seizures, and HNRNPU (pages 910–912)

      Martin Poot and Martien J. Kas

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35770

  15. Research Letters

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Articles
    11. Genetic Drift
    12. Clinical Reports
    13. Research Letters
    14. Book Reviews
    15. Correspondence
    16. Research Letters
    17. Correspondence
    1. A second report of p.Pro986Leu variant in COL2A1-phenotypic overlap with SEDC and other forms of type II collagenopathies (pages 918–920)

      Brian H.Y. Chung, Ho-ming Luk, Ivan F.M. Lo, Stephen T.S. Lam and Raymond H.W. Li

      Version of Record online: 12 MAR 2013 | DOI: 10.1002/ajmg.a.35793

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