American Journal of Medical Genetics Part A

© Wiley Periodicals, Inc.

Cover image for Vol. 164 Issue 10

October 2014

Volume 164, Issue 10

Pages C1–C1, fm i–fm v, vii–x, 2415–2688

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. You have free access to this content
      American Journal of Medical Genetics Part A: Volume 164A, Number 10, October 2014 (page C1)

      Version of Record online: 15 SEP 2014 | DOI: 10.1002/ajmg.a.36794

  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. You have free access to this content
      Table of Contents, Volume 164A, Number 10, October 2014 (pages fm i–fm v)

      Version of Record online: 15 SEP 2014 | DOI: 10.1002/ajmg.a.36795

  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. You have free access to this content
      Facial analysis technology aids diagnoses of genetic disorders : Applications narrow down potential genetic syndromes by matching facial phenotypes to distinct set of possible genetic conditions (pages vii–viii)

      Deborah Levenson

      Version of Record online: 15 SEP 2014 | DOI: 10.1002/ajmg.a.36755

    2. You have free access to this content
      Opitz award winners focus on hemihyperplasia, Kabuki syndrome : Winning papers detail array testing for hemihyperplasia, genotype-phenotype differences in KS (pages viii–ix)

      Version of Record online: 15 SEP 2014 | DOI: 10.1002/ajmg.a.36756

    3. You have free access to this content
      In this issue (page x)

      Version of Record online: 15 SEP 2014 | DOI: 10.1002/ajmg.a.36757

  4. Special Section: Ectodermal Dysplasias

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters

    1. Clinical Report

      Update on ectodermal dysplasias clinical classification (pages 2415–2423)

      Nina Amália Brancia Pagnan and Átila Fernando Visinoni

      Version of Record online: 6 AUG 2014 | DOI: 10.1002/ajmg.a.36616

    2. Research Article

      Genotype–phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia (pages 2424–2432)

      Kristin Burger, Anne-Theres Schneider, Sigrun Wohlfart, Franklin Kiesewetter, Kenneth Huttner, Ramsey Johnson and Holm Schneider

      Version of Record online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36541

    3. Research Reviews

      Future developments in XLHED treatment approaches (pages 2433–2436)

      Kenneth Huttner

      Version of Record online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36499

    4. X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry (pages 2437–2442)

      Mary Fete, Julie Hermann, Jeffrey Behrens and Kenneth M. Huttner

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36436

    5. Research Articles

      Modeling AEC—New approaches to study rare genetic disorders (pages 2443–2454)

      Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36455

    6. The WNT10A gene in ectodermal dysplasias and selective tooth agenesis (pages 2455–2460)

      Gabriele Mues, John Bonds, Lilin Xiang, Alexandre R. Vieira, Figen Seymen, Ophir Klein and Rena N. D'Souza

      Version of Record online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36520

    7. Cognitive profile of school-age children and teenagers with hypohidrotic ectodermal dysplasia (HED) (pages 2461–2464)

      Smail Hadj-Rabia, Stéphane Jacob, Hélène Dufresne, Jacob Mashiah, Laurence Vaivre-Douret and Christine Bodemer

      Version of Record online: 26 AUG 2014 | DOI: 10.1002/ajmg.a.36519

    8. Clinical Report

      Orodental manifestations in ectodermal dysplasia—A review (pages 2465–2471)

      Birgitta Bergendal

      Version of Record online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36571

    9. Research Reviews

      Etiology and pathogenesis of ectodermal dysplasias (pages 2472–2477)

      Peter H. Itin

      Version of Record online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36550

    10. Respiratory problems in patients with ectodermal dysplasia syndromes (pages 2478–2481)

      Timothy Fete

      Version of Record online: 19 MAY 2014 | DOI: 10.1002/ajmg.a.36600

    11. Conference Report

      You have free access to this content
      Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model (pages 2482–2489)

      Carlos F. Salinas, Alan D. Irvine, Peter H. Itin, John J. Di Giovanna, Holm Schneider, Angus J. Clarke, Laura Sternesky McGovern and Mary Fete

      Version of Record online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36507

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders (pages 2490–2495)

      Brett M. Martin, Margarita H. Ivanova, Anna Sarukhanov, Ashley Kim, Patricia Power, Denise Pugash, Oana-Eugenia Popescu, Ralph S. Lachman, Deborah Krakow and Millan S. Patel

      Version of Record online: 3 JUL 2014 | DOI: 10.1002/ajmg.a.36656

    2. Delineating the phenotype of 1p36 deletion in adolescents and adults (pages 2496–2503)

      Ashley Brazil, Kevin Stanford, Teresa Smolarek and Robert Hopkin

      Version of Record online: 8 JUL 2014 | DOI: 10.1002/ajmg.a.36657

    3. Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation (pages 2504–2509)

      Chloe Quelin, Emmanuel Spaggiari, Suonavy Khung-Savatovsky, Celine Dupont, Laurent Pasquier, Laurence Loeuillet, Sylvie Jaillard, Josette Lucas, Pascale Marcorelles, Hubert Journel, Khantaby Pluquailec-Bilavarn, Anne Bazin, Alain Verloes, Anne-Lise Delezoide, Azzedine Aboura and Fabien Guimiot

      Version of Record online: 26 JUN 2014 | DOI: 10.1002/ajmg.a.36658

    4. Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier? (pages 2510–2513)

      Davor Lessel, Bidisha Saha, Fuki Hisama, Bahar Kaymakamzade, Gulay Nurlu, Yasemin Gursoy-Özdemir, Holger Thiele, Peter Nürnberg, George M. Martin, Christian Kubisch and Junko Oshima

      Version of Record online: 2 JUL 2014 | DOI: 10.1002/ajmg.a.36664

    5. Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader–Willi/Angelman syndrome critical region (pages 2514–2520)

      Umut Aypar, Pamela R. Brodersen, Patrick A. Lundquist, D. Brian Dawson, Erik C. Thorland and Nicole Hoppman

      Version of Record online: 26 JUN 2014 | DOI: 10.1002/ajmg.a.36663

    6. Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation (pages 2521–2528)

      KS Yeung, YY Chee, HM Luk, Anita SY Kan, Mary HY Tang, Elizabeth T Lau, Andrew Y Shuen, Ivan FM Lo, Kelvin YK Chan and Brian HY Chung

      Version of Record online: 16 JUL 2014 | DOI: 10.1002/ajmg.a.36670

    7. Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2 (pages 2529–2534)

      Toshikatsu Mitsui, Ok-Hwa Kim, Christine M. Hall, Amaka Offiah, Diana Johnson, Dong-Kyu Jin, Teck-Hock Toh, Shun Soneda, Dai Keino, Shohei Matsubayashi, Tomohiro Ishii, Gen Nishimura and Tomonobu Hasegawa

      Version of Record online: 10 JUL 2014 | DOI: 10.1002/ajmg.a.36669

    8. Poikiloderma with neutropenia: Genotype-ethnic origin correlation, expanding phenotype and literature review (pages 2535–2540)

      Asuman Koparir, Alper Gezdirici, Erkan Koparir, Hakan Ulucan, Mehmet Yilmaz, Aslı Erdemir, Adnan Yuksel and Mustafa Ozen

      Version of Record online: 16 JUL 2014 | DOI: 10.1002/ajmg.a.36683

    9. The first case of a patient with de novo partial distal 16q tetrasomy and a data's review (pages 2541–2550)

      Marzena Kucharczyk, Andrzej Kochański, Aleksandra Jezela-Stanek, Monika Kugaudo, Danuta Sielska-Rotblum, Anna Gutkowska and Małgorzata Krajewska-Walasek

      Version of Record online: 8 AUG 2014 | DOI: 10.1002/ajmg.a.36686

    10. Differences in perspective on prognosis and treatment of children with trisomy 18 (pages 2551–2556)

      Edward H. Hurley, Sankaran Krishnan, Lance A. Parton and Allen J. Dozor

      Version of Record online: 6 AUG 2014 | DOI: 10.1002/ajmg.a.36687

    11. CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases (pages 2557–2566)

      Tara L. Wenger, Margaret Harr, Stefania Ricciardi, Elizabeth Bhoj, Avni Santani, Margaret P. Adam, Sarah S. Barnett, Rebecca Ganetzky, Donna M. McDonald-McGinn, Domenica Battaglia, Stefania Bigoni, Angelo Selicorni, Giovanni Sorge, Matteo Della Monica, Francesca Mari, Elena Andreucci, Silvia Romano, Guido Cocchi, Salvatore Savasta, Baris Malbora, Giuseppe Marangi, Livia Garavelli, Marcella Zollino and Elaine H. Zackai

      Version of Record online: 14 AUG 2014 | DOI: 10.1002/ajmg.a.36696

    12. Rare functional variants in genome–wide association identified candidate genes for nonsyndromic clefts in the African population (pages 2567–2571)

      Azeez Butali, Peter Mossey, Wasiu Adeyemo, Mekonen Eshete, Lauren Gaines, Ramat Braimah, Babatunde Aregbesola, Jennifer Rigdon, Christian Emeka, James Olutayo, Olugbenga Ogunlewe, Akinola Ladeinde, Fikre Abate, Taye Hailu, Ibrahim Mohammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Adebowale Adeyemo, Mary Marazita and Jeffrey Murray

      Version of Record online: 31 JUL 2014 | DOI: 10.1002/ajmg.a.36691

    13. Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians (pages 2572–2580)

      Jane C. Figueiredo, Stephanie Ly, Haley Raimondi, Kathy Magee, James W. Baurley, Pedro A. Sanchez-Lara, Ugonna Ihenacho, Caroline Yao, Christopher K. Edlund, David van den Berg, Graham Casey, Yves A. DeClerk, Jonathan M. Samet and William Magee III

      Version of Record online: 5 AUG 2014 | DOI: 10.1002/ajmg.a.36693

    14. Laterality defects in the national birth defects prevention study (1998–2007): Birth prevalence and descriptive epidemiology (pages 2581–2591)

      Angela E. Lin, Sergey Krikov, Tiffany Riehle-Colarusso, Jaime L. Frías, John Belmont, Marlene Anderka, Tal Geva, Kelly D. Getz, Lorenzo D. Botto and the National Birth Defects Prevention Study

      Version of Record online: 6 AUG 2014 | DOI: 10.1002/ajmg.a.36695

    15. Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD) (pages 2592–2600)

      Michael L. Cuccaro, Kayla Czape, Michael Alessandri, Joycelyn Lee, Abigail Rupchock Deppen, Elise Bendik, Nicole Dueker, Laura Nations, Margaret Pericak-Vance and Susan Hahn

      Version of Record online: 4 AUG 2014 | DOI: 10.1002/ajmg.a.36698

    16. Marshall syndrome: Further evidence of a distinct phenotypic entity and report of new findings (pages 2601–2606)

      O. Khalifa, F. Imtiaz, K. Ramzan, R. Allam, A. Al- Hemidan, E. Faqeih, G. Abuharb, A. Balobaid, N. Sakati and M. Al- Owain

      Version of Record online: 29 JUL 2014 | DOI: 10.1002/ajmg.a.36681

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia (pages 2607–2612)

      Sophia B. Hufnagel, K Nicole Weaver, Robert B. Hufnagel, Patricia I. Bader, Elizabeth K. Schorry and Robert J. Hopkin

      Version of Record online: 4 AUG 2014 | DOI: 10.1002/ajmg.a.36688

    2. Distal Xq28 microdeletions: Clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literature (pages 2613–2617)

      Amy R.U.L. Calhoun and Gerald V. Raymond

      Version of Record online: 9 JUL 2014 | DOI: 10.1002/ajmg.a.36661

    3. Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3–q26.12 microdeletion encompassing EMX2 (pages 2618–2622)

      Juliette Piard, Brigitte Mignot, Francine Arbez-Gindre, Didier Aubert, Yves Morel, Virginie Roze, Kenneth McElreavy, Philippe Jonveaux, Mylène Valduga and Lionel Van Maldergem

      Version of Record online: 26 JUN 2014 | DOI: 10.1002/ajmg.a.36662

    4. Interstitial 10p11.23–p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism (pages 2623–2626)

      Henry J. Mroczkowski, Georgianne Arnold, Francis X. Schneck, Aleksandar Rajkovic and Svetlana A. Yatsenko

      Version of Record online: 29 JUL 2014 | DOI: 10.1002/ajmg.a.36627

    5. Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation (pages 2627–2632)

      Fortunato Lonardo, Paola Di Natale, Susanna Lualdi, Fabio Acquaviva, Cristina Cuoco, Francesca Scarano, Marianna Maioli, Luigi Michele Pavone, Grazia Di Gregorio, Mirella Filocamo and Gioacchino Scarano

      Version of Record online: 8 JUL 2014 | DOI: 10.1002/ajmg.a.36667

    6. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes (pages 2633–2637)

      Lisa T. Emrick, Lauren Murphy, Alireza A. Shamshirsaz, Rodrigo Ruano, Christopher I. Cassady, Liu Liu, Fengqi Chang, V. Reid Sutton, Marilyn Li and Ignatia B. Van den Veyver

      Version of Record online: 14 JUL 2014 | DOI: 10.1002/ajmg.a.36672

    7. An osteosclerotic form of Robinow syndrome (pages 2638–2642)

      Kieran J. Bunn, Angeline Lai, Azza Al-Ani, Mauro Farella, Susan Craw and Stephen P. Robertson

      Version of Record online: 14 JUL 2014 | DOI: 10.1002/ajmg.a.36677

    8. Fetal akinesia deformation sequence: Expanding the phenotypic spectrum (pages 2643–2648)

      Shalini S. Nayak, Rajagopal Kadavigere, Mary Mathew, Pratap Kumar, Judith G. Hall and Katta M. Girisha

      Version of Record online: 8 JUL 2014 | DOI: 10.1002/ajmg.a.36673

    9. You have full text access to this OnlineOpen article
      Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome (pages 2649–2655)

      Christopher M. Watson, Laura A. Crinnion, Antigoni Tzika, Alison Mills, Andrea Coates, Maria Pendlebury, Sarah Hewitt, Sally M. Harrison, Catherine Daly, Paul Roberts, Ian M. Carr, Eamonn G. Sheridan and David T. Bonthron

      Version of Record online: 16 JUL 2014 | DOI: 10.1002/ajmg.a.36679

    10. Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations (pages 2656–2662)

      Anna Lehman, Anna-Barbara Stittrich, Gustavo Glusman, Zheyuan Zong, Hong Li, Patrice Eydoux, Christof Senger, Christopher Lyons, Jared C. Roach and Millan Patel

      Version of Record online: 4 AUG 2014 | DOI: 10.1002/ajmg.a.36685

    11. Unusual prenatal presentation of Rubinstein–Taybi syndrome: A case report (pages 2663–2666)

      Maria Francesca Bedeschi, Beatrice Letizia Crippa, Lorenzo Colombo, Sophie Guez, Marta Cerruti, Roberto Fogliani, Cristina Gervasini and Faustina Lalatta

      Version of Record online: 29 JUL 2014 | DOI: 10.1002/ajmg.a.36684

    12. Positive effects of an angiotensin II type 1 receptor antagonist in Camurati–Engelmann disease: A single case observation (pages 2667–2671)

      Pelin Ozlem Simsek-Kiper, Esra Dikoglu, Belinda Campos-Xavier, Gulen Eda Utine, Luisa Bonafe, Sheila Unger, Koray Boduroglu and Andrea Superti-Furga

      Version of Record online: 5 AUG 2014 | DOI: 10.1002/ajmg.a.36692

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Special Section: Ectodermal Dysplasias
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    1. You have full text access to this OnlineOpen article
      Copy number variation in bronchopulmonary dysplasia (pages 2672–2675)

      Thomas J. Hoffmann, Gary M. Shaw, David K. Stevenson, Hui Wang, Cecele C. Quaintance, John Oehlert, Laura L. Jelliffe-Pawlowski, Jeffrey B. Gould, John S. Witte and Hugh M. O'Brodovich

      Version of Record online: 26 JUN 2014 | DOI: 10.1002/ajmg.a.36659

    2. Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34–36 weeks) (pages 2676–2678)

      Hodad M. Naderi, Jeffrey C. Murray and John M. Dagle

      Version of Record online: 29 JUL 2014 | DOI: 10.1002/ajmg.a.36660

    3. Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency (pages 2679–2681)

      Toshiki Takenouchi, Yuki Tsukahara, Reiko Horikawa, Kenjiro Kosaki and Rika Kosaki

      Version of Record online: 13 AUG 2014 | DOI: 10.1002/ajmg.a.36671

    4. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome (pages 2682–2684)

      Ron Agatep, Cheryl Shuman, Leslie Steele, Nicole Parkinson, Rosanna Weksberg and Tracy L. Stockley

      Version of Record online: 29 JUL 2014 | DOI: 10.1002/ajmg.a.36682

    5. Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability (pages 2685–2688)

      Mariana Moysés Oliveira, Vera Ayres Meloni, Rosane Seidler Canonaco, Sylvia Satomi Takeno, Adriana Bortolai, Claudia Berlim de Mello, Fernanda Teresa de Lima and Maria Isabel Melaragno

      Version of Record online: 31 JUL 2014 | DOI: 10.1002/ajmg.a.36690

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