American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 January 1994

Volume 49, Issue 1

Pages fmi–fmi, 1–141

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490101

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. Embryonic testicular regression sequence: A part of the clinical spectrum of 46, XY gonadal dysgenesis (pages 1–5)

      Sandra M. Marcantonio, Patricia Y. Fechner, Claude J. Migeon, Elizabeth J. Perlman and Gary D. Berkovitz

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490102

    2. Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism (pages 6–9)

      M. Bronstein, A. Reichler, Z. Borochowitz, J. Bejar and A. Drugan

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490103

  3. Editorial

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
  4. Invited Editorial Comment

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
  5. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. On the use of the term “syndrome” in clinical genetics and birth defects epidemiology (pages 26–28)

      Muin J. Khoury, Cynthia A. Moore and Jane A. Evans

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490107

    2. Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence (pages 67–73)

      Valerie Lindgren, Barbara Rosinsky, Janet Chin and Elizabeth Berry-Kravis

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490112

    3. New case of axial mesodermal dysplasia sequence: Epidemiologic evidence of a single entity (pages 74–76)

      Dr. María Luisa Martínez-Frías and Juan-Luis Gomar

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490113

    4. Dynamic mosaicism involving an unstable supernumerary der(22) chromosome in cat eye syndrome (pages 77–82)

      Dr. Miguel Urioste, Guillermo Visedo, Amparo Sanchís, Carlos Sentís, Amelia Villa, Paloma Ludeña, José L. Hortigüela, María Lusia Martínez-Frías and José Fernández-Piqueras

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490114

    5. Global intellectual deficits in cystinosis (pages 83–87)

      Barbara L. H. Williams, Jerry A. Schneider and Doris A. Trauner

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490115

  6. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. Choanal atresia in a patient with the deletion (9p) syndrome (pages 88–90)

      Vandana Shashi, Wendy L. Golden and Julie S. Fryburg

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490116

  7. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. Ectomorphic habitus, severe mental retardation, and characteristic face: A new MCA/MR syndrome? (pages 91–93)

      J. P. Fryns, E. Smeets, P. Thiry, J. Geutjens, L. Vinken and H. Van den Berghe

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490117

    2. Short rib-polydactyly syndrome and pericentric inversion of chromosome 4 (pages 94–97)

      Dr. Miguel Urioste, María Luisa Martínez-Frías, Eva Bermejo, Nicolás Jiménez, Dolores Romero, Carmen Nieto and Amelia Villa

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490118

    3. Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation (pages 98–102)

      Kazushiro Tsuji, Kouji Narahara, Kiyoshi Kikkawa, Masae Murakami, Yuji Yokoyama, Shinsuke Ninomiya and Yoshiki Seino

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490119

    4. Penoscrotal transposition: A case report and review (pages 103–107)

      Jennifer MacKenzie, David Chitayat, Gordon McLorie, J. William Balfe, Paresh B. Pandit and Dr. Stan R. Blecher

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490120

    5. Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality (pages 108–110)

      Dr. Maria Valeria Migliori, Valentino Cherubini, Edoardo Bartolotta, Antonella Pettinari and Rolando Pecora

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490121

  8. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
  9. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. Parental consanguinity as a cause of increased incidence of birth defects in a study of 131, 760 consecutive birthsxs (pages 114–117)

      Professor Claude Stoll, Yves Alembik, Béatrice Dott and Josué Feingold

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490123

    2. Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome? (pages 118–124)

      Annette Feigenbaum, Catherine Bergeron, Robert Richardson, John Wherrett, Brian Robinson and Rosanna Weksberg

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490124

  10. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
    1. Gastroschisis: Is the prevalance increasing? (page 128)

      Dr. María Luisa Martínez-Frías

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490127

    2. Reply to Dr. Martínez-Frías (pages 129–130)

      Claudine Torfs and Cynthia Curry

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490128

    3. Osteogenesis imperfecta vs. child abuse (page 131)

      Erawati V. Bawle

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490129

    4. Reply to Dr. Bawle: Temporary brittle bone disease (page 132)

      Dr. Colin R. Paterson, James Burns and Susan J. McAllion

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490130

    5. No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome (pages 133–135)

      Nicola De Marchi, Stylianos E. Antonarakis and Laird Jackson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490131

    6. Proteus syndrome and unilateral congenital Windblown hand deformity (page 136)

      Luc De Smet and Dr. Jean-Pierre Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490132

  11. Book Review

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies
  12. Editorial Policies

    1. Top of page
    2. Masthead
    3. Articles
    4. Editorial
    5. Invited Editorial Comment
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. New Syndrome
    10. Articles
    11. Letter to the Editors
    12. Book Review
    13. Editorial Policies

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