American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 6

June 2009

Volume 149A, Issue 6

Pages C1–C1, fm i–fm x, 1105–1364

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. 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. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. 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. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. You have free access to this content
  4. In Memoriam

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. You have free access to this content
  5. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. You have free access to this content
      Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome (pages 1108–1115)

      Fabien Guimiot, Pascale Marcorelles, Azzedine Aboura, Georges Bonyhay, Sophie Patrier, Françoise Menez, Valérie Drouin-Garraud, Valentine Icowick, Danièle Eurin, Catherine Garel, Hélène Moirot, Eric Verspyck, Pascale Saugier-Veber, Tania Attie-Bitach, Olivier Picone, Jean François Oury, Alain Verloes, Anne Lise Delezoide and Pr. Annie Laquerrière

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32859

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. The ring 14 syndrome: Clinical and molecular definition (pages 1116–1124)

      Marcella Zollino, Laura Seminara, Daniela Orteschi, Giuseppe Gobbi, Simona Giovannini, Elvio Della Giustina, Daniele Frattini, Angela Scarano and Giovanni Neri

      Article first published online: 13 MAY 2009 | DOI: 10.1002/ajmg.a.32831

    2. Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation (pages 1125–1137)

      R. Nick Hernandez, Rachel L. Feinberg, Rebecca Vaurio, Natalie M. Passanante, Richard E. Thompson and Walter E. Kaufmann

      Article first published online: 13 MAY 2009 | DOI: 10.1002/ajmg.a.32848

    3. The Xp contiguous deletion syndrome and autism (pages 1138–1148)

      Marwan Shinawi, Ankita Patel, Prisana Panichkul, Roxanne Zascavage, Sarika U. Peters and Fernando Scaglia

      Article first published online: 13 MAY 2009 | DOI: 10.1002/ajmg.a.32833

    4. Orofacial clefts in the National Birth Defects Prevention Study, 1997–2004 (pages 1149–1158)

      Alicia E. Genisca, Jaime L. Frías, Cheryl S. Broussard, Margaret A. Honein, Edward J. Lammer, Cynthia A. Moore, Gary M. Shaw, Jeffrey C. Murray, Wei Yang and Sonja A. Rasmussen

      Article first published online: 13 MAY 2009 | DOI: 10.1002/ajmg.a.32854

    5. Impact of genetic advances and testing for hearing loss: Results from a national consumer survey (pages 1159–1168)

      Kara A. Withrow, Kelly A. Tracy, Sarah K. Burton, Virginia W. Norris, Hermine H. Maes, Kathleen S. Arnos and Arti Pandya

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32800

    6. A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard-of-hearing infants (pages 1169–1182)

      Christina G.S. Palmer, Ariadna Martinez, Michelle Fox, Jin Zhou, Nina Shapiro, Yvonne Sininger, Wayne W. Grody and Lisa A. Schimmenti

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32853

    7. You have free access to this content
      Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9 (pages 1183–1189)

      Claire Lecointre, Olivier Pichon, Antoine Hamel, Yves Heloury, Laurence Michel-Calemard, Yves Morel, Albert David and Cédric Le Caignec

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32830

    8. When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families (pages 1190–1199)

      Ramsey M. Wehbe, Gail A. Spiridigliozzi, Elizabeth M. Heise, Deborah V. Dawson and Allyn McConkie-Rosell

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32840

    9. Further characterization of the new microdeletion syndrome of 16p11.2–p12.2 (pages 1200–1204)

      Agatino Battaglia, Antonio Novelli, Laura Bernardini, Roberta Igliozzi and Barbara Parrini

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32847

    10. Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB (pages 1209–1218)

      Carmela Di Domenico, Guglielmo R.D. Villani, Daniele Di Napoli, Edoardo Nusco, Gaetano Calì, Lucio Nitsch and Paola Di Natale

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32861

    11. Zellweger syndrome caused by PEX13 deficiency: Report of two novel mutations (pages 1219–1223)

      O.Y. Al-Dirbashi, R. Shaheen, M. Al-Sayed, M. Al-Dosari, N. Makhseed, L. Abu Safieh, T. Santa, B.F. Meyer, N. Shimozawa and F.S. Alkuraya

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32874

    12. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss (pages 1224–1230)

      Hirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, Maki Eguchi, Takeshi Mizuguchi, Naoki Harada, Tadashi Kaname, Hiroki Kano, Noriko Miyake, Tatsushi Toda and Naomichi Matsumoto

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32877

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. Intrauterine exposure to mycophenolate mofetil and multiple congenital anomalies in a newborn: Possible teratogenic effect (pages 1231–1236)

      Paige Jackson, Lisa Paquette, Valerie Watiker, Linda Randolph, Rangasamy Ramanathan and Istvan Seri

      Article first published online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32715

    2. You have free access to this content
      Reviewing the evidence for mycophenolate mofetil as a new teratogen: Case report and review of the literature (pages 1241–1248)

      Marlene T. Anderka, Angela E. Lin, Dianne N. Abuelo, Allen A. Mitchell and Sonja A. Rasmussen

      Article first published online: 13 MAY 2009 | DOI: 10.1002/ajmg.a.32685

    3. Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl (pages 1249–1252)

      Yong-hui Jiang, Ping Fang, Adekunle M. Adesina, Patricia Furman, Jennifer J. Johnston, Leslie G. Biesecker and Chester W. Brown

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32863

    4. Phenotypic and microscopic description of a new case of Ermine phenotype (pages 1253–1256)

      Yuri A. Zarate, M. Cristina Pacheco, Kevin E. Bove, Robert Gorlin, Huiquan Zhao and Robert J. Hopkin

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32815

    5. A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies (pages 1257–1262)

      Farah R. Zahir, Sylvie Langlois, Kim Gall, Patrice Eydoux, Marco A. Marra and Jan M. Friedman

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32827

    6. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome (pages 1263–1267)

      Christian Thiel, Martin Wilken, Martin Zenker, Heinrich Sticht, Raimund Fahsold, Gabriele-Charlotte Gusek-Schneider and Anita Rauch

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32837

    7. Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome (pages 1268–1272)

      Angelo Selicorni, Anna Maria Colli, Alice Passarini, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Viviana Alloni, Laura Salvini, Maria Albina Galli, Silvia Ghiglia, Patrizia Salice and Gian Battista Danzi

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32838

    8. Significant phenotypic variability of Muenke syndrome in identical twins (pages 1273–1276)

      Luis F. Escobar, Adam K. Hiett and Anne Marnocha

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32841

    9. Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: Exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes (pages 1277–1279)

      Roseli Maria Zechi-Ceide, Lucilene Arilho Ribeiro, Salmo Raskin, Claudia Danielli Pereira Bertolacini, Maria Leine Guion-Almeida and Antonio Richieri-Costa

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32844

    10. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation (pages 1280–1289)

      C. Bonnet, B. Leheup, M. Béri, C. Philippe, M.-J. Grégoire and P. Jonveaux

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32858

    11. Familial odontoid hypoplasia (pages 1290–1292)

      Cathy A. Stevens, Richard G. Pearce and Edward M. Burton

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32860

    12. Thanatophoric dysplasia caused by double missense FGFR3 mutations (pages 1296–1301)

      Stéphanie Pannier, Jelena Martinovic, Solange Heuertz, Anne-Lise Delezoide, Arnold Munnich, Laurent Schibler, Valérie Serre and Laurence Legeai-Mallet

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32880

    13. Inv dup del(4)(:p13 [RIGHTWARDS ARROW] p16.3::p16.3 [RIGHTWARDS ARROW] qter) in a girl without typical manifestations of Wolf–Hirschhorn syndrome (pages 1302–1307)

      Giorgio A. Paskulin, Mariluce Riegel, Philip D. Cotter, Andrea Kiss, Rafael F.M. Rosa, Paulo R.G. Zen, Rômulo Mombach and Carla Graziadio

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32888

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. Changes in an inherited ring (22) due to meiotic recombination? Implications for genetic counseling (pages 1310–1314)

      Vaidehi Jobanputra, Erin Ash, Kwame Anyane-Yeboa, Dorothy Warburton and Brynn Levy

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32680

    2. “Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion (pages 1315–1316)

      Thomy de Ravel, Irina Balikova, Jozef Van Driessche, Joris Vermeesch and Jean-Pierre Fryns

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32817

    3. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: When should IRF6 mutational screening be done? (pages 1319–1322)

      Fernanda Sarquis Jehee, Beatriz A. Burin, Kátia M. Rocha, Roseli Zechi-Ceide, Daniela F. Bueno, Luciano Brito, Josiane Souza, Gabriela Ferraz Leal, Antonio Richieri-Costa, Nivaldo Alonso, Paulo A. Otto and Maria Rita Passos-Bueno

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32849

    4. Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia (pages 1323–1326)

      P. Callier, L. Faivre, N. Marle, C. Thauvin-Robinet, J. Guy, A.L. Mosca, P. D'Athis, A. Masurel-Paulet, D. Assous, J.R. Teyssier, F. Huet and F. Mugneret

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32857

    5. Mosaicism in Marshall syndrome (pages 1327–1330)

      Leena Ala-Kokko and Alan L. Shanske

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32873

  9. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. The Erlenmeyer flask bone deformity in the skeletal dysplasias (pages 1334–1345)

      Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin and Ralph S. Lachman

      Article first published online: 14 MAY 2009 | DOI: 10.1002/ajmg.a.32253

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. In Memoriam
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Correspondence
    1. John Locke and a case of macrodactyly (page 1364)

      S. Price and A.N. Williams

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32879

SEARCH

SEARCH BY CITATION