American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

13 February 1995

Volume 55, Issue 4

Pages fmi–fmi, 397–522

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Masthead (page fmi)

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene (pages 397–401)

      Dr. M. E. Hodes, William E. Demyer, Victoria M. Pratt, Mary K. Edwards and Stephen R. Dlouhy

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550402

    2. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene (pages 402–404)

      Victoria M. Pratt, Simon Boyadjiev, Stephen R. Dlouhy, Kenneth Silver, Vazken M. Der Kaloustian and Dr. M. E. Hodes

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550403

    3. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease (pages 405–407)

      Dawn Olson Kleindorfer, Stephen R. Dlouhy, Victoria M. Pratt, Marylin C. Jones, James A. Trofatter and Dr. M. E. Hodes

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550404

    4. Genetic detection of the silent allele (*Q0) in hereditary deficiencies of the human complement C6, C7, and C9 components (pages 408–413)

      Victoria Alvarez, Eliecer Coto, Fernando Setién, Peter J. Spath and Carlos López-Larrea

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550405

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Pitt–Rogers–Danks syndrome: Further delineation (pages 420–422)

      Dr. Luis A. Lizcano-Gil, Diana García-Cruz, Olga García-Cruz and José Sánchez-Corona

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550407

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FA/H): A model of a developmental field defect (pages 427–432)

      Giovanni Sorge, Salvatore Ardito, Maurizio Genuardi, Vito Pavone, Renata Rizzo, Giovanni Conti, Giovanni Neri, Ben E. Katz and John M. Opitz

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550409

    2. Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics (pages 444–452)

      SuEllen Toth-Fejel, R. Ellen Magenis, Stuart Leff, Michael G. Brown, Bonnie Comegys, Helen Lawce, Toby Berry, David Kesner, Mary Jane Webb and Susan Olson

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550411

    3. Summary of the 1993 ASHG ancillary meeting “recent research on chromosome 4p syndromes and genes” (pages 453–458)

      Dr. Laurel L. Estabrooks, W. Roy Breg, Michael R. Hayden, David H. Ledbetter, Richard M. Myers, Herman E. Wyandt, Teresa L. Yang-Feng and Kurt Hirschhorn

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550412

  5. Editorial Comment

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Tooth agenesis in down syndrome (pages 466–471)

      Björn G. Russell and Inger Kjær

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550415

    2. Fetal akinesia and multiple perinatal fractures (pages 472–477)

      Harold Chen, Will R. Blackburn and Wladimir Wertelecki

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550416

    3. Spondyloenchondromatosis: Syndromic identity and evolution of the phenotype (pages 478–482)

      P. Zack and Professor P. Beighton

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550417

    4. Detection of Y chromosome sequences in a 45,X/46,XXq– patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH) (pages 483–488)

      Mirjana Kocova, Selma Feldman Siegel, Sharon L. Wenger, Peter A. Lee, Michael Nalesnik and Massimo Trucco

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550418

    5. De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland (pages 489–493)

      Harold Chen, William H. Hoffman, Christine J. Kusyk, Cathy M. Tuck-Muller, Martin G. Hoffman and Loretta S. Davis

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550419

    6. Anterior cervical hypertrichosis: A dominantly inherited isolated defect (pages 498–499)

      Stephen R. Braddock, Kenneth Lyons Jones, Lynne M. Bird, Isidro Villegas and Marilyn C. Jones

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550421

    7. Genetic study of nonsyndromic coronal craniosynostosis (pages 500–504)

      Elizabeth Lajeunie, Martine Le Merrer, Catherine Bonaïti-Pellie, Daniel Marchac and Dr. Dominique Renier

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550422

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Adenomyosis: Evidence for genetic cause (pages 505–506)

      Lori L. Arnold, Jeanne M. Meck and James A. Simon

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550423

    2. Another case of prenatally diagnosed 48,XYY,+21 (pages 509–511)

      Juliann Stevens, Angela Lin, Elizabeth Gettig, Karen Filkins and Elizabeth McPherson

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550425

    3. Increased risk of neural tube defects after recurrent pregnancy losses (page 512)

      Zs. Ádám, F. Poulin and Z. Papp

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550426

    4. Maternal diabetes causing DiGeorge anomaly and renal agenesis (pages 513–514)

      Maria Cristina Digilio, Bruno Marino, Roberto Formigari and Aldo Giannotti

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550427

  8. Books Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Editorial Comment
    7. Articles
    8. Letter to the Editors
    9. Books Received
    1. Books received (pages 521–522)

      Version of Record online: 16 MAY 2005 | DOI: 10.1002/ajmg.1320550428

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