American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

March 1989

Volume 32, Issue 3

Pages fmi–fmi, 291–441

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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Masthead (page fmi)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population (pages 291–297)

      Henri Plauchu, Jean-Pierre De Chadarévian, Alain Bideau and Jacques-Michel Robert

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320302

  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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Acrocallosal syndrome in a girl born to consanguineous parents (pages 298–300)

      Leonardo J. Salgado, Carlos A. Ali and Eduardo E. Castilla

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320303

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Hypogenitalism in the acrocallosal syndrome (pages 301–305)

      Prof. Dr. Samia A. Temtamy and Nagwa A. Meguid

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320304

  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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Acrocallosal syndrome: New findings (pages 306–310)

      John B. Moeschler, Barbara R. Pober, Lewis B. Holmes and John M. Graham Jr.

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320305

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Acrocallosal syndrome: Additional manifestations (pages 311–317)

      Anthony C. Casamassima, Debra Beneck, Michael H. Gewitz, Marc A. Horowitz, Paul K. Woolf, Isabel M. Pettersen and Lawrence R. Shapiro

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320306

  7. 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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. New and old syndromes (page 318)

      Dr. Albert Schinzel

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320307

    2. Response to new and old syndromes, by A. Schinzel (page 319)

      Helga V. Toriello

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320308

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Secondary trisomy or mosaic “tetrasomy” 8p (pages 320–324)

      Dr. Meinhard Robinow, Nancy Haney, Harold Chen, Thomas Sorauf, Daniel L. Van Dyke, V. Ramesh Babu, Sandra Powell, William Maliszewski, Susan Guerin and Janes W. Landers

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320309

  9. Animal Model

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Sibs with growth deficiency, delayed bone age, congenital hip dislocation, and iridocorneal abnormalities with glaucoma (pages 330–332)

      Robert F. Stratton, Mark W. Parker, Craig A. McKeown and Chris P. Johnson

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320311

    2. Angelman syndrome in a daughter with del(15) (q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum, and ataxia in the mother (pages 333–338)

      Dr. Charles A. Williams, Jill E. Hendrickson, Eduardo S. Cantú and Timothy A. Donlon

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320312

    3. Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected persons (pages 339–345)

      Dr. Charles A. Williams, Brian A. Gray, Jill E. Hendrickson, John W. Stone and Eduardo S. Cantú

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320313

    4. Duplication of distal 22q (pages 346–349)

      Dr. Dvorak Abeliovich, Esther Maor, Nava Bashan and Rivka Carmi

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320314

    5. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37) (pages 350–352)

      Dr. Jerome L. Gorski, Beth A. Cox, Mi Kyine, Wendy Uhlmann and Thomas W. Glover

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320315

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Direct duplication of chromosome 1, dir dup(1)(p21.2 [RIGHTWARDS ARROW] p32) in a Bedouin boy with multiple congenital anomalies (pages 353–355)

      F. M. A. Mohammed, T. I. Farag, S. S. Gunawardana, D. D. Al-Digashim, S. A. Al-Awadi, S. A. Al-Othman and T. S. Sundareshan

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320316

  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Survey of neural tube defects in spontaneously aborted embryos (pages 356–358)

      Dr. Deborah E. McFadden and Dagmar K. Kalousek

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320317

    2. A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2 (pages 359–363)

      Jeanette C. Ramer, Roger L. Ladda, Carl A. Frankel and Avril Beckford

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320318

    3. Chromosome 10qter deletion syndrome: A review and report of three new cases (pages 364–367)

      Dr. Eric A. Wulfsberg, Ramona P. Weaver, Christopher M. Cunniff, Marilyn C. Jones and Kenneth Lyons Jones

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320319

    4. Congenital microgastria and hypoplastic upper limb anomalies (pages 368–370)

      Gregg T. Lueder, Anna Fitz-James and S. Bruce Dowton

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320320

    5. Omodysplasia (pages 371–375)

      Dr. P. Maroteaux, J. Sauvegrain, A. Chrispin and J. P. Farriaux

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320321

    6. A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q (pages 376–379)

      Dr. Fahed Halal, Michel Vekemans and Vazken M. Der Kaloustian

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320322

  13. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Limb deficiency in an infant with Smith-Lemli-Opitz syndrome (pages 380–383)

      Lewis P. Singer, Robert W. Marion and John K. H. Li

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320323

  14. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Autosomal dominant supravalvular aortic stenosis: Large three-generation family (pages 384–389)

      Michael A. Schmidt, Gregory J. Ensing, Virginia V. Michels, Guy A. Carter, Donald J. Hagler and Robert H. Feldt

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320324

    2. Prenatal detection of Roberts-SC phocomelia syndrome: Report of 2 sibs with characteristic manifestations (pages 390–394)

      David B. Robins, Roger L. Ladda, Gary A. Thieme, Danielle K. Boal, Beverly S. Emanuel and Elaine H. Zackai

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320325

    3. Glutaric aciduria type II: Review of the phenotype and report of an unusual glomerulopathy (pages 395–401)

      Golder N. Wilson, Jean-Pierre de Chadarévian, Paige Kaplan, James P. Loehr, Frank E. Frerman and Stephen I. Goodman

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320326

  15. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Expanding the phenotype of the Proteus syndrome: A severely affected patient with new findings (pages 402–406)

      Ertan Mayatepek, Thaddeus W. Kurczynski, Elizabeth S. Ruppert, James R. Hennessy, Ray A. Brinker and Beatrice N. French

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320327

  16. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance (pages 407–410)

      Mayana Zatz, Maria Rita Passos-Bueno and Debora Rapaport

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320328

    2. Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13) (pages 411–416)

      Gabriele Krüger, Jürgen Götz, Ulrich Kvist, Helmut Dunker, Fritz Erfurth, Dr. Lothar Pelz and Lore Zech

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320329

    3. Problems in genetic counseling in a family with an “atypical” centronuclear myopathy (pages 417–419)

      Dr. Bertram Müller, Maria Luisa Mostacciuolo, Gian Antonio Danieli and Tiemo Grimm

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320320330

    4. Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies (pages 420–424)

      Catherine Turleau, Marie-Odile Cabanis, Danièle Girault, Françoise Ledeist, René Mettey, Hugues Puissant, Marguerite Prieur and Dr. Jean De Grouchy

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320331

    5. Further delineation of the Nijmegen breakage syndrome (pages 425–431)

      Rob D. F. M. Taalman, Theo W. J. Hustinx, Dr. Corry M. R. Weemaes, Eva Seemanová, Angela Schmidt, Eberhard Passarge and Jacques M. J. C. Scheres

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320332

  17. 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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification: Another observation (pages 432–434)

      Dr. Peter Meinecke, Jürgen Spranger, Elke Schaefer and Pierre Maroteaux

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320333

    2. Association of holoprosencephaly and Down syndrome (page 435)

      Dr. M. L. Martínez-Frías

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320334

  18. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Erratum (pages 436–437)

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320335

  19. 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. Letter to the Editors
    9. Articles
    10. Animal Model
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    19. Articles
    20. Letter to the Editors
    1. Hypothesis: The existence of embryonic and adult isoforms of mRNA dystrophin provides an explanation for unusual clinical findings (pages 438–441)

      Mayana Zatz, Maria Rita Passos-Bueno, Mariz Vainzof and Rita C. M. Pavanello

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320320336

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