American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 February 2002

Volume 108, Issue 1

Pages 1–90

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Rapid Publications
    6. Invited Comment
    1. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida (pages 1–6)

      Gary M. Shaw, Edward J. Lammer, Huiping Zhu, Mei Wang Baker, Eric Neri and Richard H. Finnell

      Version of Record online: 14 JAN 2002 | DOI: 10.1002/ajmg.10195

    2. Spectrum of the acrocallosal syndrome (pages 7–11)

      Rainer Koenig, Alexia Bach, Ulrike Woelki, Karl-Heinz Grzeschik and Sigrun Fuchs

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10236

    3. Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population (pages 12–15)

      Iêda M. Orioli, Alexandre R. Vieira, Eduardo E. Castilla, Jeffrey E. Ming and Maximilian Muenke

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10204

    4. Apparent genotype–phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome (pages 16–22)

      Mohammad A. Karim, Koji Suzuki, Kazuyoshi Fukai, Jangsuk Oh, Deborah L. Nagle, Karen J. Moore, Ernest Barbosa, Tzipora Falik-Borenstein, Alexandra Filipovich, Yasushi Ishida, Sirpa Kivrikko, Christoph Klein, Friedmar Kreuz, Alex Levin, Hiroaki Miyajima, Jose R. Regueiro, Carolyn Russo, Eiichiro Uyama, Outi Vierimaa and Richard A. Spritz

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10184

    5. Common mutations of ATP7B in Wilson disease patients from Hungary (pages 23–28)

      Gábor Firneisz, Péter L. Lakatos, Ferenc Szalay, Claudia Polli, Tibor T. Glant and Peter Ferenci

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10220

    6. Serious genetic disorders: Can or should they be defined? (pages 29–35)

      Dorothy C. Wertz and Bartha Maria Knoppers

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10212

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Rapid Publications
    6. Invited Comment
    1. Pure 6p22-pter trisomic patient: Refined FISH characterization and genotype-phenotype correlation (pages 36–40)

      D. Giardino, P. Finelli, D. Caufin, G. Gottardi, R. Lo Vasco, L. Turolla and L. Larizza

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10225

    2. Combination of diaphragmatic eventration and microphthalmia/anophthalmia is probably nonrandom (pages 45–50)

      Robert D. Steiner, Peter St. J. Dignan, Robert J. Hopkin, Rafal Kozielski and Kevin E. Bove

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10167

    3. Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease? (pages 51–56)

      Melissa A. Parisi, Raj P. Kapur, Ian Neilson, Robert M.W. Hofstra, Lynda W. Holloway, Ron C. Michaelis and Kathleen A. Leppig

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10185

    4. Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine β-synthase (CBS) deficiency (pages 57–63)

      Reza Yaghmai, Amir H. Kashani, Michael T. Geraghty, Jay Okoh, Martin Pomper, Albert Tangerman, Conrad Wagner, Sally P. Stabler, Robert H. Allen, S. Harvey Mudd and Nancy Braverman

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10186

    5. Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype (pages 64–68)

      Chitra Prasad, Sandra Marles, Asuri N. Prasad, Sarah Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye and Małgorzata J.M. Nowaczyk

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10211

    6. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation (pages 69–74)

      André Mégarbané, Bassem A. Bejjani, Lisa G. Shaffer, Sélim Jambart, Noelle Souraty, Catherine D. Kashork and Martine Le Merrer

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10222

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Rapid Publications
    6. Invited Comment
    1. Apolipoprotein B and apolipoprotein E genotypes and sporadic holoprosencephaly (pages 75–77)

      Lisa A. Croen, Gary M. Shaw, Robert C. Barber, Mei M. Baker, Richard H. Finnell and Edward J. Lammer

      Version of Record online: 5 DEC 2001 | DOI: 10.1002/ajmg.10134

    2. Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasia (pages 78–79)

      Ernie M.H.F. Bongers, Hans van Bokhoven, Nine V.A.M. Knoers, Ben C.J. Hamel and C. Geoffrey Woods

      Version of Record online: 16 JAN 2002 | DOI: 10.1002/ajmg.10198

  4. Rapid Publications

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Rapid Publications
    6. Invited Comment
    1. You have free access to this content
      Five additional Costello syndrome patients with rhabdomyosarcoma: Proposal for a tumor screening protocol (pages 80–87)

      Karen W. Gripp, Charles I. Scott Jr., Linda Nicholson, Donna M. McDonald-McGinn, J. Daniel Ozeran, Marilyn C. Jones, Angela E. Lin and Elaine H. Zackai

      Version of Record online: 4 JAN 2002 | DOI: 10.1002/ajmg.10241

  5. Invited Comment

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Rapid Publications
    6. Invited Comment

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