American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 December 1991

Volume 41, Issue 4

Pages fmi–fmi, 393–570

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. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Gardner syndrome: Study and follow-up of a family (pages 393–397)

      Guy L. Kratzer, Asao Kasumi and Anne J. Krush

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410402

    2. Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome (pages 398–404)

      Tania Bustos, Venancio Simosa, Juán Pinto-Cisternas, William Abramovits, Liliana Jolay, Luis Rodriguez, Luis Fernandez and Marcos Ramela

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410403

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Problems in ascertainment of transmitting males in Martin-Bell syndrome (pages 410–416)

      Danuta Z. Loesch, David A. Hay and Margaret Leversha

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410405

    2. First report of management and outcome of pregnancies associated with hereditary orotic aciduria (pages 426–431)

      Jeannette T. Bensen, Lewis H. Nelson, Mark J. Pettenati, Steven M. Block, S. W. Brusilow, Laura R. Livingstone and Barbara K. Burton

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410408

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. New form of postaxial acrofacial dysostosis? (pages 438–443)

      Raanan Arens, Brian Reichman, Mariassa Bat-Miriam Katznelson and Richard M. Goodman

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410411

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. True agonadism: Report of a case analyzed with Y-specific DNA probes (pages 444–445)

      Dr. Andréa T. Maciel-Guerra, Solange B. Farah, Heraldo M. Garmes, Walter Pinto Jr., Joaquim M. Bustorff Da Silva, Maria Teresa Baptista, Antonia Paula Marques-de-Faria, Gil Guerra Jr. and Maricilda P. De Mello

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410412

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Relative order and location of DNA sequences on chromosome 21 linked to familial Alzheimer disease (pages 454–459)

      Stefan-Matthias Pulst, Teresa Yang-Feng and Julie R. Korenberg

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410415

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5 (pages 460–463)

      Tatsunori Kobayashi, Dr. Kouji Narahara, Yuji Yokoyama, Satoshi Ueyama, Osamu Mohri, Takao Fujii, Makoto Fujimoto, Shin-Itchi Ohtsuki, Kazushiro Tsuji and Yoshiki Seino

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410416

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: A newly recognized syndrome (pages 464–468)

      Dr. Joel Charrow, Andrew K. Poznanski, Frances M. Unger and Meinhard Robinow

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410417

    2. Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region (pages 469–474)

      Francis Y. M. Choy, Mary Woo and Vazken M. Der Kaloustian

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410418

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
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    8. Brief Clinical Reports
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    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs (pages 475–477)

      Miguel Urioste, Antonio Arroyo and María-Luisa Martínez-Frías

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410419

  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Double vagina, cardiac, pulmonary, and other genital malformations with 46, XY karyotype (pages 478–481)

      Lillian R. Meacham, Kevin J. Winn, Floyd L. Culler and John S. Parks

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410420

    2. Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis (pages 482–486)

      Osamu Shinohara, Chidori Kubota, Mikio Kimura, Gen Nishimura and Shori Takahashi

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410421

    3. Hallermann–Streiff syndrome: A review (pages 488–499)

      M. Michael Cohen Jr.

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410423

    4. Hallermann-Streiff syndrome with hypopituitarism contributing to growth failure (pages 503–507)

      Enikö K. Pivnick, Stephen Burstein, R. Sid Wilroy, Robert A. Kaufman and Jewell C. Ward

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410425

    5. Radiological findings in Hallermann–Streiff syndrome: Report of five cases and a review of the literature (pages 508–514)

      Cathy L. Christian, Ralph S. Lachman, Arthur S. Aylsworth, Atsuko Fujimoto, Robert J. Gorlin, Mark H. Lipson and John M. Graham Jr.

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410426

    6. Hallermann–Streiff syndrome: Clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (pages 517–520)

      Ann Spaepen, Constance Schrander-Stumpel, Jean-Pierre Fryns, Christine De Die-Smulders, Martine Borghgraef and Herman Van Den Berghe

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410428

    7. Tracheomalacia in Hallermann–Streiff Syndrome (pages 521–523)

      Bonnie Anne Salbert, Cathy A. Stevens and J. Edward Spence

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410429

  13. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Jeune syndrome and cystinuria (page 531)

      Jill Clayton-Smith

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410431

    2. Response to Dr. Clayton-Smith: Jeune syndrome and cystinuria (page 532)

      Bruno Dallapiccola, Carlo Dionisi-Vici, Bianca Goffredo, Stefano Rinaldi and Gianfranco Rizzoni

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320410432

    3. Dermatoglyphic analysis of autistic basque children (page 533)

      Dr. M. I. Arrieta

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410433

  14. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. On lumping and splitting: A fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome (pages 548–556)

      Maximilian Muenke, Eduardo D. Ruchelli, Lucy B. Rorke, Donna M. McDonald-McGinn, Michael K. Orlow, Ann Isaacs, Frank J. Craparo, Linda K. Dunn and Elaine H. Zackai

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410436

    2. Characterization of the 5q- breakpoint in an acute nonlymphocytic leukemia patient using pulsed-field gel electrophoresis (pages 557–565)

      Donald E. Thornton, Karl Theil, Robert Payson, Stanley P. Balcerzak and Ing-Ming Chiu

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410437

  15. Chromosome Analysis Guidelines Preliminary Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
  16. Announcements

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Letter to the Editors
    15. Articles
    16. Chromosome Analysis Guidelines Preliminary Reports
    17. Announcements
    1. Announcement (page 570)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320410439

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