American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 March 1992

Volume 42, Issue 5

Pages fmi–fmi, 643–760

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420501

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Preaxial polydactyly of feet in infants of diabetic mothers: Epidemiological test of a clinical hypothesis (pages 643–646)

      Dr. María Luisa Martínez-Frías, Eva Bermejo and Ana Cereijo

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420502

  3. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Psoriasis vulgaris, fetal growth, and genomic imprinting (pages 649–654)

      Heiko Traupe, Petra J. M. van Gurp, Rudolf Happle, Jan Boezeman and Peter C. M. van de Kerkhof

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420504

    2. Birth prevalence study of the apert syndrome (pages 655–659)

      Dr. M. Michael Cohen Jr., Sven Kreiborg, Edward J. Lammer, José F. Cordero, Pierpaolo Mastroiacovo, J. David Erickson, Peter Roeper and Maria Luisa Martínez-Frías

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420505

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Growth hormone deficiency and empty sella syndrome in a boy with dup(x)(q13.3[RIGHTWARDS ARROW]q21.2) (pages 660–664)

      Yuji Yokoyama, Kouji Narahara, Kazushiro Tsuji, Tadashi Moriwake, Susumu Kanzaki, Masae Murakami, Hiroshi Namba, Shinsuke Ninomiya, Joji Higuchi and Yoshiki Seino

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420506

    2. del(18p) syndrome with complex tetralogy of fallot in an infant with 45,X,t(Y;18)(q12;q11.2) (pages 665–666)

      Prof. S. El Kalla, A. R. Mathews and N. S. Menon

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420507

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Growth hormone therapy in achondroplasia (pages 667–670)

      William A. Horton, Jacqueline T. Hecht, O. Jean Hood, Robert N. Marshall, Wayne V. Moore and Joseph G. Hollowell

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420508

    2. Unique karyotypes in two patients with Prader-Willi syndrome (pages 671–677)

      Kouji Narahara, Kei Hiramoto, Masae Murakami, Susumu Miyake, Kazushiro Tsuji, Yuji Yokoyama, Hiroshi Namba, Shinsuke Ninomiya, Ryuko Murakami and Yoshiki Seino

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420509

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Interstitial deletion 8p21.3 [RIGHTWARDS ARROW] p23.1 in a 6-year-old girl (pages 678–680)

      Patrick J. Morrison, June Jones and Prof. Norman C. Nevin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420510

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation? (pages 688–692)

      N. G. Laing, M. G. Layton, R. D. Johnsen, D. C. Chandler, M. E. Mears, J. Goldblatt and B. A. Kakulas

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420512

    2. β-glucuronidase deficiency as a cause of fetal hydrops (pages 693–695)

      M. J. Kagie, W. J. Kleijer, J. G. M. Huijmans, P. Maaswinkel-Mooy and Dr. H. H. H. Kanhai

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420513

    3. Glycogen storage disease type III with muscle involvement: Reappraisal of phenotypic variability and prognosis (pages 696–699)

      Toru Momoi, Hirohiko Sano, Chutaro Yamanaka, Hiroshi Sasaki and Haruki Mikawa

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420514

    4. Ocular albinism in a male with del (6)(q13–q15): Candidate region for autosomal recessive ocular albinism? (pages 700–705)

      Nancy C. Rose, Sheryl J. Menacker, Rhonda E. Schnur, Laird Jackson, Donna M. McDonald-McGinn, Tammy Stump, Beverly S. Emanuel and Elaine H. Zackai

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420515

    5. New skeletal dysplasia with unique brachydactyly (pages 706–713)

      Tarja K. Mononen, Pamela S. Karnes, Melvin O. Senac Jr. and Rena E. Falk

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420516

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Congenital absence of the vas deferens: Recurrence in a family (pages 714–715)

      Rick A. Martin, Kenneth Lyons Jones and Earl C. Downey

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420517

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21) (pages 716–719)

      Dr. Louise Telvi, Martine Folhen, Odile Raoul, Josué Feingold, Gérard Ponsot, Alain Pompidou, Marie O. Rethoré and Jérǒme Lejeune

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420518

    2. Identification of the origin of ring/marker chromosomes in patients with ullrich-turner syndrome using X and Y specific alpha satellite DNA probes (pages 720–723)

      Sugandhi A. Tharapel, R. Sid Wilroy, Amber M. Keath, Marian L. Rivas and Avirachan T. Tharapel

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420519

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Charcot-marie-tooth neuropathy related to chromosome 1 (pages 728–732)

      Victor V. Ionasescu, James Trofatter, Jonathan L. Haines, Rebecca Ionasescu and Charles Searby

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420521

  13. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. New case of Bartsocas-Papas syndrome surviving at 20 months (pages 733–735)

      Dr. A. Giannotti, M. C. Digilio, L. Standoli, M. Zama and B. Dallapiccola

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420522

  14. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Absent thumb, immune disorder, and congenital anemia presenting with hydrops fetalis (pages 736–740)

      Ben A. Semmekrot, Asgeir Haraldsson, Corry M. R. Weemaes, Dominique F. C. M. Smeets, Wil B. Geven and Han G. Brunner

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420523

  15. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. Heterogeneity in ataxia-telangiectasia: Classical phenotype associated with intermediate cellular radiosensitivity (pages 741–746)

      Dr. L. Chessa, P. Petrinelli, A. Antonelli, M. Fiorlli, R. Elli, L. Marcucci, A. Federico and E. Gandini

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420524

    2. Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS (pages 747–750)

      Jürgen Bernert, Iris Bartels, Gudrun Gatz, Ingo Hansmann, Martina Heyat, Paul D. Niedmann, Helga Rehder, Claus Waldenmaier and Barbara Zoll

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420525

  16. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. New Syndrome
    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. Brief Clinical Reports
    15. New Syndrome
    16. Articles
    17. Letter To The Editors
    1. You have free access to this content
    2. You have free access to this content
      Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma (page 754)

      David W. Webb and John P. Osborne

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420527

    3. You have free access to this content
    4. You have free access to this content
      Lumping of CFC and Baraitser-Patton Noonan-Like syndromes (page 756)

      Dr. Alain Verloes and Martine Le Merrer

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420529

    5. You have free access to this content
      Reply to Drs. Verloes and Le Merrer: Another observation (page 757)

      Tadashi Kajii, Ichiro Murano, Osamu Kondoh, Takashi Hayashi and Yukihisa Matsuda

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420530

    6. You have free access to this content
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