American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 July 2004

Volume 128A, Issue 1

Pages 1–105

  1. Invited Comment

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
  2. Research Articles

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. Kantaputra mesomelic dysplasia: A second reported family (pages 6–11)

      Deborah J. Shears, Amaka Offiah, Paul Rutland, Tony Sirimanna, Maria Bitner-Glindzicz and Christine Hall

      Version of Record online: 20 MAY 2004 | DOI: 10.1002/ajmg.a.20640

    2. Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome (pages 12–14)

      Takeshi Sawada, Toshihide Okada, Kazuhiro Miwa, Hiro Satoh, Akimichi Asano and Hiroshi Mabuchi

      Version of Record online: 2 OCT 2003 | DOI: 10.1002/ajmg.a.20309

    3. New onset focal weakness in children with Down syndrome (pages 15–18)

      Gordon Worley, Rolla Shbarou, Amy N. Heffner, Karin M. Belsito, George T. Capone and Priya S. Kishnani

      Version of Record online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30067

    4. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain (pages 19–22)

      Laura Rodríguez, Santiago Rodríguez, Juan Hermida, Carlos Frade, Esther Sande, Guillermo Visedo, Carlos Martín and Carlos Zapata

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30074

    5. Cohen syndrome in the Ohio Amish (pages 23–28)

      Marni J. Falk, Heidi S. Feiler, Derek E. Neilson, Kathleen Maxwell, James V. Lee, Samantha K. Segall, Nathaniel H. Robin, Kirk C. Wilhelmsen, Ann-Liz Träskelin, Juha Kolehmainen, Anna-Elina Lehesjoki, Max Wiznitzer and Matthew L. Warman

      Version of Record online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30033

    6. Clinical and genetic heterogeneity in Desbuquois dysplasia (pages 29–32)

      Laurence Faivre, Martine Le Merrer, Klaus Zerres, Mongi Ben Hariz, Déborah Scheffer, Ian D. Young, Pierre Maroteaux, Arnold Munnich and Valérie Cormier-Daire

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30042

    7. Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers (pages 33–38)

      A. Herry, F. Morel, M.-J. Le Bris, V. Bellec, H. Lallaoui, P. Parent and Marc De Braekeleer

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30077

    8. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type (pages 39–45)

      Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Mariam Al-Ali, Mariam S. Al-Mureikhi, Shelley Kennedy, Ghalia Al-Thani, Lap-Chee Tsui and Ahmad Said Teebi

      Version of Record online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30005

    9. Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal (pages 46–47)

      Mario Giuffrè, Piero Sammarco, Carmelo Fabiano, Fabio Giardina, Fabio Lunetta and Giovanni Corsello

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30075

  3. Rapid Publications

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
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      Elevated catecholamine metabolites in patients with Costello syndrome (pages 48–51)

      Karen W. Gripp, Hiroshi Kawame, David H. Viskochil and Linda Nicholson

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30100

  4. New Syndrome

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. You have free access to this content
      Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: A novel syndrome? (pages 52–56)

      Joshua L. Bonkowsky, John F. Bohnsack, Mary J. Pennington, David Viskochil and Joel A. Thompson

      Version of Record online: 5 MAR 2004 | DOI: 10.1002/ajmg.a.30006

  5. Clinical Reports

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: A phenotype overlapping Stratton–Parker syndrome (pages 57–59)

      Emanuela Spadoni, Claudia Castelnovi, Paola Maraschio, Elisabetta Stacul, Giampiero Beluffi, Mauro Bozzola and Cesare Danesino

      Version of Record online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30037

    2. A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation (pages 60–62)

      L. Zahed, G. Oreibi, H. El-Amine, M. Obeid and F.F. Bitar

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30084

    3. A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene (pages 67–71)

      Ai Komatsu, Satoru Suzuki, Takeshi Inagaki, Koh Yamashita and Kiyoshi Hashizume

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30087

    4. Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)] (pages 72–77)

      Svetlana A. Yatsenko, Trilochan Sahoo, Melinda Rosenkranz, Roberto Mendoza-Londono, Rizwan Naeem and Fernando Scaglia

      Version of Record online: 22 MAR 2004 | DOI: 10.1002/ajmg.a.30094

    5. Trisomy 14pter [RIGHTWARDS ARROW] q21: A case with associated ovarian germ cell tumor and review of the literature (pages 78–84)

      Lisa Lee-Jones, Tom Williams, Elizabeth Little and Julian Sampson

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30076

    6. Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the sonic hedgehog gene and the HLXB9 gene at 7q36.3 (pages 85–92)

      Denise Horn, Holger Tönnies, Heidemarie Neitzel, Dagmar Wahl, Georg Klaus Hinkel, Arpad von Moers and Oliver Bartsch

      Version of Record online: 23 MAR 2004 | DOI: 10.1002/ajmg.a.30031

  6. Research Letters

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. Can amputated digits point to clues about etiology? (pages 93–94)

      Márcia Gonçalves Ribeiro, Eduardo E. Castilla and Iêda Maria Orioli

      Version of Record online: 9 MAR 2004 | DOI: 10.1002/ajmg.a.20415

    2. Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene (pages 95–97)

      Barry Eng, Tim Heshka, Mark A. Tarnopolsky, Lisa M. Nakamura, Małgorzata J.M. Nowaczyk and John S. Waye

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30085

  7. Letters to the Editor

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. Outcome in Down syndrome fetuses with cardiac anomalies (pages 101–102)

      Bruno Marino, Luca Diociaiuti, Giulio Calcagni and Pierpaolo Mastroiacovo

      Version of Record online: 11 FEB 2004 | DOI: 10.1002/ajmg.a.20690

  8. Correspondence

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publications
    5. New Syndrome
    6. Clinical Reports
    7. Research Letters
    8. Letters to the Editor
    9. Correspondence
    1. Reply to the letter from Marino et al. “Outcome in Down syndrome fetuses with cardiac anomalies” (page 103)

      Marja W. Wessels, Jury W. Wladimiroff and Patrick J. Willems

      Version of Record online: 22 APR 2004 | DOI: 10.1002/ajmg.a.20694

    2. Is G6PD A- deficiency associated with recurrent stillbirths in The Gambia? (pages 104–105)

      Giorgio Sirugo, Elizabeth A. Schaefer, Alieu Mendy, Pardis Sabeti, Beryl West, Robin Bailey, Fabio Macciardi, Laura A. Zonta and Gijs Walraven

      Version of Record online: 21 APR 2004 | DOI: 10.1002/ajmg.a.30080

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