American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 1

1 January 2008

Volume 146A, Issue 1

Pages 1–135

  1. Clinical Reports

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. You have free access to this content
      In utero exposure to mycophenolate mofetil: A characteristic phenotype? (pages 1–7)

      Antonio Perez-Aytes, Ana Ledo, Virginia Boso, Pilar Sáenz, Eva Roma, José Luis Poveda and Maximo Vento

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32117

  2. New Syndrome

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. You have free access to this content
      Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome (pages 8–14)

      Raz Somech, Gino R. Somers, David Chitayat, Eyal Grunebaum, Adelle Atkinson, Elena Kolomietz and Chaim M Roifman

      Article first published online: 15 OCT 2007 | DOI: 10.1002/ajmg.a.32014

  3. Research Articles

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability (pages 43–50)

      Marjolijn C.J. Jongmans, Lies H. Hoefsloot, Kim P. van der Donk, Ronald J. Admiraal, Alex Magee, Ingrid van de Laar, Yvonne Hendriks, Joke B.G.M. Verheij, Ian Walpole, Han G. Brunner and Conny M.A. van Ravenswaaij

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.31921

    2. Descriptive epidemiology of Cornelia de Lange syndrome in Europe (pages 51–59)

      Ingeborg Barisic, Visnja Tokic, Maria Loane, Fabrizio Bianchi, Eliza Calzolari, Ester Garne, Diana Wellesley and Helen Dolk

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32016

    3. Fragile X full mutation alleles composed of few alleles: Implications for CGG repeat expansion (pages 60–65)

      Sarah L. Nolin, Xiao-hua Ding, George E. Houck, W. Ted Brown and Carl Dobkin

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32087

    4. Cytogenetic study of spontaneous abortions using semi-direct analysis of chorionic villi samples detects the broadest spectrum of chromosome abnormalities (pages 66–70)

      Carme Morales, Aurora Sánchez, Jordi Bruguera, Ester Margarit, Antoni Borrell, Virginia Borobio and Anna Soler

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32058

    5. Major gene and multifactorial inheritance of mandibular prognathism (pages 71–77)

      Ricardo Machado Cruz, Henrique Krieger, Ricardo Ferreira, James Mah, James Hartsfield Jr and Silviene Oliveira

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32062

  4. Clinical Reports

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. The Hunter–MacDonald syndrome with expanded phenotype including risk of meningioma: An update and review (pages 83–92)

      Linlea Armstrong, Gail E. Graham, R. Neil Schimke, Debra L. Collins, Daniel J. Kirse, Fiona Costello and Holly H. Ardinger

      Article first published online: 30 OCT 2007 | DOI: 10.1002/ajmg.a.31998

    2. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation (pages 93–96)

      Caroline Schluth, Roselyne Gesny, Guntram Borck, Richard Redon, Véronique Abadie, Pascale Kleinfinger, Arnold Munnich, Stanislas Lyonnet and Laurence Colleaux

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.31869

    3. Acrocentric cryptic translocation associated with nondisjunction of chromosome 21 (pages 97–102)

      Sandra Ramos, Miguel Angel Alcántara, Bertha Molina, Victoria del Castillo, Silvia Sánchez and Sara Frias

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32000

    4. Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q-phenotype (pages 110–115)

      Alberto Sensi, Paolo Prontera, Barbara Buldrini, Silvia Palma, Vincenzo Aiello, Rita Gruppioni, Elisa Calzolari, Stefano Volinia and Alessandro Martini

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32059

  5. Invited Comments

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
  6. Clinical Reports

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. A child with deletion (14)(q24.3q32.13) and auditory neuropathy (pages 117–123)

      Kamilla Schlade-Bartusiak, Georgina Macintyre, Janice Zunich and Diane W. Cox

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32064

  7. Research Letters

    1. Top of page
    2. Clinical Reports
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Clinical Reports
    8. Research Letters
    1. A girl with Down syndrome and partial trisomy for 21pter-q22.13: A clue to narrow the Down syndrome critical region (pages 124–127)

      Daisuke Sato, Hiroki Kawara, Osamu Shimokawa, Naoki Harada, Hidefumi Tonoki, Nobuhiro Takahashi, Yumi Imai, Hiromi Kimura, Naomichi Matsumoto, Tadashi Ariga, Norio Niikawa and Koh-ichiro Yoshiura

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.31974

    2. Hemihyperplasia and discordant bone age in a patient with trisomy 8 mosaicism (pages 132–135)

      R. Voigt, J. Gburek-Augustat, A. Seidel and G. Gillessen-Kaesbach

      Article first published online: 11 DEC 2007 | DOI: 10.1002/ajmg.a.32049

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