American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 August 1994

Volume 52, Issue 1

Pages fmi–fmi, 1–121

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520101

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele (pages 1–4)

      Sansnee Chatkupt, Marcy C. Speer, Yulan Ding, Marc Thomas, Edward S. Stenroos, James J. Dermody, M. Richard Koenigsberger, Jurg Ott and William G. Johnson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520102

    2. Desbuquois syndrome: Clinical, radiographic, and morphologic characterization (pages 9–18)

      Mordechai Shohat, Ralph Lachman, Helen E. Gruber, Y. Edward Hsia, Mitchell S. Golbus, David R. Witt, Adria Bodell, Christine R. Bryke, W. Allen Hogge and David L. Rimoin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520104

    3. Molecular and cytogenetic studies of an X;autosome translocation in a patient with premature ovarian failure and review of the literature (pages 19–26)

      Dr. Cynthia M. Powell, R. Thomas Taggart, Timothy C. Drumheller, Damrong Wangsa, Chiping Qian, Lawrence M. Nelson and Beverly J. White

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520105

  3. Animal Model

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. XLPRA: A canine retinal degeneration inherited as an X-linked trait (pages 27–33)

      Dr. Gregory M. Acland, Susan H. Blanton, Bennett Hershfield and Gustavo D. Aguirre

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520106

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. Deletion of the short arm of chromosome 10 (10p13): Report of a patient and review (pages 34–38)

      Moshe Shapira, Zvi Borochowitz, Hanna Bar-El, Hanna Dar, Amos Etzioni and Avraham Lorber

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520107

    2. Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene (pages 39–43)

      Berenice B. Mendonça, Ǎngela S. Barbosa, Ivo J. P. Arnhold, Ken McElreavey, Marc Fellous and Carlos A. Moreira-Filho

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520108

    3. De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations (pages 44–50)

      Steuart K. Shapira, Kent L. Anderson, Avi Orr-Urtregar, Willaim J. Craigen, James R. Lupski and Lisa G. Shaffer

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520109

    4. Natural history of body mass index in Williams-Beuren syndrome (pages 51–54)

      Dr. med. R. Pankau, C.-J. Partsch, A. Neblung, A. Gosch, A. Wessel and J. Schaub

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520110

    5. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease (pages 58–65)

      Dr. W. Reardon, A. Hockey, P. Silberstein, B. Kendall, T. I. Farag, M. Swash, R. Stevenson and M. Baraitser

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520112

    6. FISH detection of Wolf-Hirschhorn syndorem: Exclusion of D4F26 as critical site (pages 70–74)

      Dr. Virginia P. Johnson, Michael R. Altherr, Jerome M. Blake and Laura D. Keppen

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520114

    7. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and angelman syndrome (pages 85–91)

      Judith A. Delach, Sally S. Rosengren, Lawrence Kaplan, Robert M. Greenstein, Suzanne B. Cassidy and Dr. Peter A. Benn

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520117

    8. FISH diagnosis of partial trisomy 13 and tetrasomy 13 in a patient with severe trigonocephaly (C) phenotype (pages 92–96)

      Thomas W. Chu, Ahmad S. Teebi, Lisa Gibson, W. R. Breg and Teresa L. Yang-Feng

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520118

    9. Long-chain 3-hydroxyacyl-Coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome (pages 97–102)

      Julie S. Fryburg, John P. Pelegano, Michael J. Bennett and E. Martina Bebin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520119

  5. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. Reply to Dr. Kalousek (page 116)

      Dr. Peter A. Benn and Anne Devi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520123

    2. Chorioretinal dysplasis–microcephaly–mental retardation syndrome (page 117)

      Mette Warburg and Hans E. Heuer

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520124

    3. Reply to Nance and Ludowese (page 120)

      Dr. Maurice Bloch

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520126

  6. Book Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Animal Model
    5. Articles
    6. Letter to the Editors
    7. Book Received
    1. You have free access to this content
      Book received (page 121)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520127

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