American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 February 2003

Volume 117A, Issue 1

Pages 1–102

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion (pages 1–5)

      Oliver Bartsch, Michaela Nemecková, Eduard Kocárek, Annett Wagner, Alena Puchmajerová, Maja Poppe, Katrin Ounap and Petr Goetz

      Article first published online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10914

    2. Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure (pages 6–9)

      R.D.L. Hundscheid, A.P.T. Smits, C.M.G. Thomas, L.A.L.M. Kiemeney and D.D.M. Braat

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10862

    3. Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy (pages 10–17)

      Sabine Rudnik-Schöneborn, László Sztriha, Gururaj R. Aithala, Gunnar Houge, Liv M. Lægreid, Jürgen Seeger, Michael Huppke, Brunhilde Wirth and Klaus Zerres

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10863

    4. Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse) (pages 18–20)

      Jeanne Amiel, Anna Pelet, Ha Trang, Loïc de Pontual, Michel Simonneau, Arnold Munnich, Claude Gaultier and Stanislas Lyonnet

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10934

    5. Biological and environmental contributions to adaptive behavior in fragile X syndrome (pages 21–29)

      Bronwyn Glaser, David Hessl, Jennifer Dyer-Friedman, Cindy Johnston, Jacob Wisbeck, Annette Taylor and Allan Reiss

      Article first published online: 7 AUG 2002 | DOI: 10.1002/ajmg.a.10549

    6. Chromosomal fragility in patients with triple A syndrome (pages 30–36)

      Shalini Reshmi-Skarja, Angela Huebner, Katrin Handschug, David N. Finegold, Adrian J.L. Clark and Susanne M. Gollin

      Article first published online: 18 SEP 2002 | DOI: 10.1002/ajmg.a.10846

    7. A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred (pages 37–40)

      Daniella Landau, Anat Mishori-Dery, Reli Hershkovitz, Ginat Narkis, Khalil Elbedour and Rivka Carmi

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10894

    8. Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9 (pages 41–46)

      Ana Cristina V. Krepischi-Santos and Angela M. Vianna-Morgante

      Article first published online: 6 JAN 2003 | DOI: 10.1002/ajmg.a.10634

    9. Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1-21.1 (pages 47–56)

      Julie E. Hoover-Fong, J. Cai, C.B. Cargile, G.H. Thomas, A. Patel, C.A. Griffin, E.W. Jabs and A. Hamosh

      Article first published online: 19 NOV 2002 | DOI: 10.1002/ajmg.a.10046

    10. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances (pages 57–64)

      Art Daniel, Elizabeth Baker, Nicole Chia, Eric Haan, Paul Malafiej, Lyn Hinton, Nigel Clarke, Lesley Adès, Artur Darmanian and David Callen

      Article first published online: 25 NOV 2002 | DOI: 10.1002/ajmg.a.10048

    11. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait (pages 65–71)

      Marcella Zollino, Cesare Colosimo, Orsetta Zuffardi, Elena Rossi, Alessandra Tosolini, Christopher A. Walsh and Giovanni Neri

      Article first published online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10068

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. De novo interstitial tandem duplication of chromosome 20p12.1p13 (pages 76–79)

      T.J.L. de Ravel, J.R. Vermeesch and J.-P. Fryns

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10825

  3. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. Pachygyria and polymicrogyria in 22q11 deletion syndrome (pages 80–82)

      Hiroaki Ehara, Yoshihiro Maegaki and Kenzo Takeshita

      Article first published online: 2 OCT 2002 | DOI: 10.1002/ajmg.a.10508

  4. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
  5. Invited Comment

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. Is Sonic hedgehog (SHH) a candidate gene for spina bifida? A pilot study (pages 87–88)

      Huiping Zhu, Robert Barber, Gary M. Shaw, Edward J. Lammer and Richard H. Finnell

      Article first published online: 23 JAN 2003 | DOI: 10.1002/ajmg.a.10841

  6. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome (pages 89–91)

      Araceli Álvarez, Ignacio del Castillo, Alejandra Pera, Manuela Villamar, Miguel A. Moreno-Pelayo, Felipe Moreno, Ramón Moreno and M. Cruz Tapia

      Article first published online: 24 SEP 2002 | DOI: 10.1002/ajmg.a.10851

  7. Historical Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
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  8. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
  9. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Research Letter
    5. Research Letters
    6. Invited Comment
    7. Research Letters
    8. Historical Reviews
    9. Book Reviews
    10. Correspondence
    1. Clinical paper and statistics (page 100)

      Maria Luisa Mosso

      Article first published online: 11 DEC 2002 | DOI: 10.1002/ajmg.a.10016

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