American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

April 1990

Volume 35, Issue 4

Pages fmi–fmi, 453–608

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Masthead (page fmi)

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350401

  2. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Hereditary cranium bifidum and symmetric parietal foramina are the same entity (pages 453–458)

      Dr. Bertis B. Little, Kraig A. Knoll, Victor R. Klein and Karen B. Heller

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350402

  3. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Red cell superoxide dismutase, glutathione peroxidase and catalase in down syndrome patients with and without manifestations of Alzheimer disease (pages 459–467)

      Maire E. Percy, Arthur J. Dalton, Vjerica D. Markovic, Donald R. Crapper McLachlan, Jocelyn T. Hummel, Ann C. M. Rusk and David F. Andrews

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350403

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Syndrome of partial aniridia, cerebellar ataxia, and mental retardation—Gillespie syndrome (pages 468–469)

      Professor N. C. Nevin and J. H. K. Lim

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350404

  5. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Arthur Robinson—an appreciation (pages 470–474)

      John M. Opitz

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350405

    2. Living history: An autobiography of Arthur Robinson (pages 475–480)

      Arthur Robinson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350406

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Ring chromosome 6: Clinical and cytogenetic behaviour (pages 481–483)

      César Paz-y-Miño, Javier Benítez, Carmen Ayuso and Andrés Sánchez-Cascos

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350407

  7. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. New acrofacial dysostosis syndrome in 3 sibs (pages 484–489)

      Dr. José Ignacio Rodríguez, José Palacios and Miguel Urioste

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350408

    2. Severe postaxial acrofacial dysostosis: An anatomic and angiographic study (pages 490–492)

      Dr. José Ignacio Rodríguez and José Palacios

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350409

  8. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. You have free access to this content
      Autosomal recessive form of mandibular dysostosis (pages 493–495)

      Mark J. Stephan

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350410

  9. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Factors influencing the reproductive decision after genetic counseling (pages 496–502)

      Petra G. Frets, Hugo J. Duivenvoorden, Frans Verhage, Martinus F. Niermeijer, Sophie M. M. van de Berge and Hans Galjaard

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350411

    2. Model identifying the reproductive decision after genetic counseling (pages 503–509)

      Petra G. Frets, Hugo J. Duivenvoorden, Frans Verhage, Eva Ketzer and Martinus F. Niermeijer

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350412

    3. Attitudes of at-risk and affected individuals regarding presymptomatic testing for autosomal dominant polycystic kidney disease (pages 510–515)

      Eva Sujansky, Susan Beeler Kreutzer, Ann M. Johnson, Dennis C. Lezotte, Robert W. Schrier and Patricia A. Gabow

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350413

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
  11. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Pyridoxine-unresponsive homocystinuria with an unusual clinical course (pages 519–522)

      Frederick B. Cochran, Lawrence Sweetman, Kathleen Schmidt, Greg Barsh, Jan Kraus and Seymour Packman

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350415

  12. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Mosaicism in Pallister i(12p) syndrome (pages 523–525)

      Sharon L. Wenger, Leslie Y. Boone and Mark W. Steele

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350416

  13. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Prenatal diagnosis of Pallister-Killian syndrome (pages 526–528)

      S. Soukup and K. Neidich

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350417

  14. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. De novo inverted interstitial (“mirror”) duplication of chromosome 8(q13[RIGHTWARDS ARROW]q24.1) in a liveborn male (pages 529–531)

      Dr. Alan E. Donnenfeld, Michael D. Coyne and Laurent J. Beauregard

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350418

  15. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2) (pages 532–535)

      Eric Legius, Jean-Pierre Fryns, Benedict Eyskens, Ephren Eggermont, Valeer Desmet, Guy de Bethune and Herman Van den Berghe

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350419

    2. Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR (pages 536–545)

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

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350420

    3. Johanson-Blizzard syndrome: Clinical spectrum and further delineation of the syndrome (pages 546–551)

      Ruth Gershoni-Baruch, Aaron Lerner, Jacob Braun, Yossef Katzir, Theodore C. Iancu and Avraham Benderly

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350421

    4. Dubowitz syndrome: Possible evidence for a clinical subtype (pages 561–565)

      Dr. Helena G. Ilyina and Iosif W. Lurie

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350423

    5. Trichothiodystrophy, mental retardation, short stature, ataxia, and gonadal dysfunction in three Moroccan siblings (pages 566–573)

      Serge Przedborski, Alina Ferster, Sylvie Goldman, Renée Wolter, Micheline Song, Tonne Tonnesen, Rodney J. Pollitt and Esther Vamos

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350424

    6. Autosomal dominant Polycystic Kidney Disease: A linkage evaluation of heterogeneity in Italy (pages 579–581)

      P. Mandich, G. Restagno, G. Novelli, E. Bellone, L. Potenza, O. Varetto, B. Dallapiccola, A. Carbonara and F. Ajmar

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350426

  16. New Syndrome

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
  17. Invited Editorial

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
  18. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
  19. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. You have free access to this content
      Chromosomal abnormality associated with congenital heart defect (page 590)

      Dr. Angela E. Lin

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350430

    2. You have free access to this content
      Reply to Dr. Lin (page 591)

      Dr. Richard C. Juberg, Nancy L. Eriksen and Louis Buttino Jr.

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350431

    3. You have free access to this content
      Paracentric inversion inv(18)(q21.1q23) in a woman with recurrent spontaneous abortions (pages 592–593)

      Ewa Bocian, Tadeusz Mazurczak and Halina Stanczak

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350432

    4. You have free access to this content
      Prenatal diagnosis of argininosuccinic aciduria by assay of argininosuccinate in amniotic fluid at the 12th week of gestation (page 594)

      B. Chadefaux, I. Ceballos, D. Rabier, M. Coude, P. Kamoun, J. Boue and J. Desgres

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350433

  20. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Letter To The Editors
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Articles
    15. Brief Clinical Reports
    16. Articles
    17. New Syndrome
    18. Invited Editorial
    19. Letter to the Editors
    20. Letter To The Editors
    21. Articles
    1. Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3 (pages 595–599)

      J. E. Olsson, Ch. Samanns, J. Jimenez, J. Pongratz, A. Chand, A. Watty, S. A. Seuchter, M. Denton and A. Gal

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350434

    2. Comparison of direct and indirect methods of carrier detection in an X-linked disease (pages 600–608)

      Dwight D. Koeberl, Cynthia D. K. Bottema and Dr. Steve S. Sommer

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350435

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