American Journal of Medical Genetics Part A

Cover image for Vol. 161 Issue 3

March 2013

Volume 161, Issue 3

Pages C1–C1, fm i–fm iv, vii–x, 405–638

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    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. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. 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. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. 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 x)

      Version of Record online: 21 FEB 2013 | DOI: 10.1002/ajmg.a.35900

  4. Conference Report

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. You have free access to this content
      Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria (pages 405–416)

      Scott R. Plotkin, Jaishri O. Blakeley, D. Gareth Evans, C. Oliver Hanemann, Theo J.M. Hulsebos, Kim Hunter-Schaedle, Ganjam V. Kalpana, Bruce Korf, Ludwine Messiaen, Laura Papi, Nancy Ratner, Larry S. Sherman, Miriam J. Smith, Anat O. Stemmer-Rachamimov, Jeremie Vitte and Marco Giovannini

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35760

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease (pages 417–429)

      Helga V. Toriello, Miriam Erick, Jean-Luc Alessandri, Diana Bailey, Nicola Brunetti-Pierri, Helen Cox, Alan Fryer, Denise Marty, Charles McCurdy, John B. Mulliken, Helen Murphy, Joseph Omlor, Richard M. Pauli, Judith D. Ranells, Amarillis Sanchez-Valle, Ana Tobiasz, Lionel Van Maldergem and Angela E. Lin

      Version of Record online: 12 FEB 2013 | DOI: 10.1002/ajmg.a.35765

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Contributions of a specialty clinic for children and adolescents with Down syndrome (pages 430–437)

      Brian G. Skotko, Emily Jean Davidson and Gil S. Weintraub

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35795

    2. Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: A report from the National Down Syndrome Project (pages 438–444)

      NaTasha D. Hollis, Emily G. Allen, Tiffany Renee Oliver, Stuart W. Tinker, Charlotte Druschel, Charlotte A. Hobbs, Leslie A. O'Leary, Paul A. Romitti, Marjorie H. Royle, Claudine P. Torfs, Sallie B. Freeman, Stephanie L. Sherman and Lora J.H. Bean

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35796

    3. Two extraordinarily severe cases of Treacher Collins syndrome (pages 445–452)

      Mislen Bauer, Wilmar Saldarriaga, S. Anthony Wolfe, J. Bruce Beckwith, Jaime L. Frias and M. Michael Cohen Jr.

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35397

    4. Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? (pages 461–466)

      Marco W.F. van Gent, Sebastiaan Velthuis, Martijn C. Post, Repke J. Snijder, Cornelis J.J. Westermann, Tom G.W. Letteboer and Johannes J. Mager

      Version of Record online: 8 FEB 2013 | DOI: 10.1002/ajmg.a.35715

    5. A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1 (pages 467–472)

      Talia M. Muram, David A. Stevenson, Sarah Watts-Justice, David H. Viskochil, John C. Carey, Rong Mao and Brian Jackson

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35718

    6. Novel FREM1 mutations expand the phenotypic spectrum associated with manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome (pages 473–478)

      Jared Nathanson, Daniel T. Swarr, Amihood Singer, Mochi Liu, Amy Chinn, Wendy Jones, Jane Hurst, Nahla Khalek, Elaine Zackai and Anne Slavotinek

      Version of Record online: 8 FEB 2013 | DOI: 10.1002/ajmg.a.35736

    7. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants (pages 479–486)

      Carla Sustek D'Angelo, Ilana Kohl, Monica Castro Varela, Cláudia Irene Emílio de Castro, Chong Ae Kim, Débora Romeo Bertola, Charles Marques Lourenço, Ana Beatriz Alvarez Perez and Celia Priszkulnik Koiffmann

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35761

    8. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients (pages 487–500)

      John C.K. Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil Anilkumar, Wendy E. Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith A. Eddleman, Michael Marble, Regina Zambrano, John A. Crolla and Allen N. Lamb

      Version of Record online: 23 JAN 2013 | DOI: 10.1002/ajmg.a.35767

    9. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age (pages 501–508)

      Carole A. Samango-Sprouse, Teresa Sadeghin, Francine L Mitchell, Teresa Dixon, Emily Stapleton, Madison Kingery and Andrea L. Gropman

      Version of Record online: 23 JAN 2013 | DOI: 10.1002/ajmg.a.35769

    10. Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA (pages 509–517)

      Hyung-Doo Park, Ah-Ra Ko, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Sung Yoon Cho, Se Hwa Kim, Sung Won Park, Young Bae Sohn and Dong-Kyu Jin

      Version of Record online: 8 FEB 2013 | DOI: 10.1002/ajmg.a.35298

    11. Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome (pages 518–526)

      Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park and Gen Nishimura

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35772

    12. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams–Beuren syndrome (pages 527–533)

      Maria Delio, Kathleen Pope, Tao Wang, Joy Samanich, Chad R. Haldeman-Englert, Paige Kaplan, Tamim H. Shaikh, Jinlu Cai, Robert W. Marion, Bernice E. Morrow and Melanie Babcock

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35784

    13. Hearing from parents: The impact of receiving the diagnosis of Williams syndrome in their child (pages 534–541)

      Jessica L. Waxler, Elizabeth M. Cherniske, Kristen Dieter, Pamela Herd and Barbara R. Pober

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35789

    14. Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing (pages 542–549)

      Zoe Lohn, Shelin Adam, Patricia Birch, Anne Townsend and Jan Friedman

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35794

    15. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B (pages 550–555)

      Anita E. Beck, Margaret J. McMillin, Heidi I.S. Gildersleeve, Phillip R. Kezele, Kathryn M. Shively, John C. Carey, Michael Regnier and Michael J. Bamshad

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35809

    16. Validation of a new multiple osteochondromas classification through Switching Neural Networks (pages 556–560)

      Marina Mordenti, Enrico Ferrari, Elena Pedrini, Nicola Fabbri, Laura Campanacci, Marco Muselli and Luca Sangiorgi

      Version of Record online: 8 FEB 2013 | DOI: 10.1002/ajmg.a.35819

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver–Russell syndrome (pages 572–577)

      Mustafa Ghanim, Sylvie Rossignol, Bruno Delobel, Melita Irving, Owen Miller, Louise Devisme, Jean-Louis Plennevaux, Sophie Lucidarme-Rossi, Sylvie Manouvrier, Azzi Salah, Olimpia Chivu, Irène Netchine and Catherine Vincent-Delorme

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35691

    2. Perinatal and early infantile symptoms in congenital disorders of glycosylation (pages 578–584)

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

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35702

    3. Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review (pages 585–588)

      Michael D. Scahill, Petruska Maak, Christian Kunder and Louis P. Halamek

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35703

    4. Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism (pages 589–593)

      Ana Beleza-Meireles, Eunice Matoso, Lina Ramos, Joana B. Melo, Isabel M. Carreira, Eduardo D. Silva and Jorge M. Saraiva

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35713

    5. Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion (pages 594–599)

      Sean B. Herman, Sarah K. Holman, Stephen P. Robertson, Lynn Davidson, Benjamin Taragin and Joy Samanich

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35716

    6. Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation (pages 600–604)

      Débora R Bertola, Melina G. Rodrigues, Caio R.D.C. Quaio, Chong A. Kim and Maria Rita Passos-Bueno

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35762

    7. Neuroblastoma in a pediatric patient with a microduplication of 2p involving the MYCN locus (pages 605–610)

      David Van Mater, Erik H. Knelson, Kathleen A. Kaiser-Rogers and Michael B. Armstrong

      Version of Record online: 8 FEB 2013 | DOI: 10.1002/ajmg.a.35766

    8. A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype (pages 611–618)

      Chiara Castronovo, Daniela Rusconi, Milena Crippa, Daniela Giardino, Cristina Gervasini, Donatella Milani, Anna Cereda, Lidia Larizza, Angelo Selicorni and Palma Finelli

      Version of Record online: 22 JAN 2013 | DOI: 10.1002/ajmg.a.35814

    9. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue (pages 619–625)

      Ben C. Li, Jacob Hogue, Meg Eilers, Pavni Mehrotra, James Hyland, Tara Holm, Tracy Prosen and Anne M. Slavotinek

      Version of Record online: 11 FEB 2013 | DOI: 10.1002/ajmg.a.35792

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate (pages 626–629)

      Sascha Meyer, Günther Löffler, Martin Gencik, Peter Fries, Panagiotis Papanagiotou, Barbara Oehl-Jaschkowitz and Ludwig Gortner

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35758

    2. Letter to the editor: Hidden pituitary gland: Implications for assessment (pages 630–631)

      Viktoriya Paroder, Todd Miller, Alan L. Shanske, Kohei Shiota, Muhammad Naeem Khan and M. Michael Cohen Jr

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35880

    3. De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly (pages 632–636)

      Nicoletta Resta, Lucrezia De Cosmo, Francesco Claudio Susca, Donatella Capodiferro, Anna Maria Nardone, Diana Pastorivo, Marta Bertoli, Carmela Serlenga, MariaGabriella Burattini, Federico Schettini and Nicola Laforgia

      Version of Record online: 7 FEB 2013 | DOI: 10.1002/ajmg.a.35777

  9. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Report
    6. Clinical Reports
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Correspondence
    1. Phenotype of Williams–Beuren syndrome in Brazilian patients: Comments on the article by Patil et al. [2012] and discussion of variable phenotypes in distinct populations (pages 637–638)

      Melissa Machado Viana, Martin Stofanko, Higgor Gonçalves-Dornelas, Pricila da Silva Cunha and Marcos José Burle de Aguiar

      Version of Record online: 24 JAN 2013 | DOI: 10.1002/ajmg.a.35740

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