American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 September 1991

Volume 40, Issue 4

Pages fmi–fmi, 387–524

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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400401

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations (pages 387–394)

      Giorgio Filippi, Araxy Arslanian, Franca Dagna-Bricarelli, Mauro Pierluigi, Marina Grasso, Antoniettina Rinaldi, Mariano Rocchi and Marcello Siniscalco

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400402

    2. Extending the Pallister-Hall syndrome to include other central nervous system malformations (pages 395–400)

      David P. Finnigan, Sterling K. Clarren and Joel E. Haas

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400403

    3. Delayed spontaneous pubertal growth spurt in girls with the Ullrich-Turner syndrome (pages 401–405)

      Prof. Dr. Lothar Pelz, Günther Sager, Georg Klaus Hinkel, Margitta Kirchner, Gabriele Krüger and Günther Verron

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400404

    4. New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255 (pages 406–413)

      Meredith Wilson, John Mulley, Agi Gedeon, Hazel Robinson and Gillian Turner

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400405

    5. Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype (pages 417–420)

      Lyn S. Chitty, Rory McCrimmon, I. Karen Temple, Isobel M. Russell-Eggitt and Dr. Michael Baraitser

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400407

    6. Hepatic dysfunction in Alström disease (pages 421–424)

      Mary B. Connolly, Dr. James E. Jan, Robert M. Couch, Lawrence T. K. Wong, James E. Dimmick and J. Michael Rigg

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400408

    7. Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors (pages 425–428)

      Vickie L. Hannig, Jeanne R. Hopkins, H. Keith Johnson, John A. Phillips III and Stephen T. Reeders

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400409

    8. Severe anomalies associated with ring chromosome 7 (pages 429–431)

      Leslie G. Biesecker, Beth Cox and Thomas W. Glover

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400410

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2 (pages 440–443)

      David J. Aughton, Suzanne B. Cassidy, David A. H. Whiteman, Judith A. Delach and Alan E. Guttmacher

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400412

    2. Opitz trigonocephaly syndrome (pages 444–446)

      Thomas Haaf, Renate Hofmann and Michael Schmid

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400413

    3. Hypomelanosis of ito associated with chromosomal translocation involving Xp11 (pages 447–448)

      M. Serena Lungarotti, Cecilia Martello, Anna Calabro, Franco Baldari and Giacomo Mariotti

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400414

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Linkage of an Alzheimer disease susceptibility locus to markers on human chromosome 21 (pages 449–453)

      Leonard L. Heston, Harry T. Orr, Stephen S. Rich and June A. White

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400415

    2. Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes (pages 454–459)

      A. J. Kirkilionis, A. E. Chudley, C. A. Gregory and J. L. Hamerton

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400416

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Ring chromosome 15 and 15qs+ mosaic: Clinical and cytogenetic behaviour spanning 29 years (pages 460–463)

      Dr. Arabella Smith, Gesina den Dulk, Renate Viersbach and John Michas

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400417

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Trisomy 9 confined to the placenta: Prenatal diagnosis and neonatal follow-up (pages 464–466)

      Z. Appelman, J. Rosensaft, J. Chemke, B. Caspi, M. Ashkenazi and M. B. Mogilner

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400418

    2. Smith-Fineman-Myers syndrome in two brothers (pages 467–470)

      Dr. Lesley C. Adès, Bronwyn Kerr, Gillian Turner and Grahame Wise

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400419

    3. Retrospective survey of urea cycle disorders: Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies (pages 477–481)

      N. Nagata, I. Matsuda, T. Matsuura, K. Oyanagi, K. Tada, K. Narisawa, T. Kitagawa, T. Sakiyama, F. Yamashita and M. Yoshino

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400421

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Neurological aspects of del(1q) syndrome (pages 488–492)

      Keiko Murayama, Robert S. Greenwood, Kathleen W. Rao and Arthur S. Aylsworth

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400424

    2. Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity (pages 493–499)

      Mark Trifiro, R. Lynn Prior, Nelly Sabbaghian, Dr. Leonard Pinsky, Morris Kaufman, Edward G. Nylen, Denise D. Belsham, Cheryl R. Greenberg and Klaus Wrogemann

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400425

    3. Quantitative analysis of associations between birth defects and suspected human teratogens (pages 500–505)

      Dr. Muin J. Khoury, Levy M. James and Michele C. Lynberg

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400426

    4. Absence of fetal cells in maternal circulation at a level of 1 in 25,000 (pages 506–508)

      Yasuo Nakagome, Satoko Seki, Shigeo Nagafuchi, Dr. Yutaka Nakahori and Kodo Sato

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400427

    5. De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts (pages 509–512)

      R. Grey Weaver, Nagesh Rao, Ioan T. Thomas and Dr. Mark J. Pettenati

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400428

  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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. “Snail-like pelvis” chondrodysplasia: A further case report (pages 513–514)

      G. Camera, G. Scarano, A. Tronci, G. La Cava and P. Mastroiacovo

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400429

  10. Invited Editorial Comment

    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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
  11. 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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Protocol for genetic testing in Huntington disease: Three years of experience in Minnesota (pages 518–522)

      Martha A. Nance, Bonnie S. Leroy, Harry T. Orr, Terry Parker, Stephen S. Rich and Leonard L. Heston

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400431

  12. 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. Invited Editorial Comment
    12. Articles
    13. Letter to the Editors
    1. Risk calculations in the fragile-X syndrome (page 523)

      Joseph C. F. M. Dreesen, Arie Smits and Han Brunner

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400432

    2. Reply to Drs. Dreesen, Smits, and Brunner (page 524)

      Dr. Patrick J. Willems, Bernadette van Roy, Peter Raeymaekers and Ben Oostra

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400433

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