American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 February 1994

Volume 49, Issue 3

Pages fmi–fmi, 261–368

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Autosomal recessive colobomatous microphthalmia (pages 261–262)

      Joël Zlotogora, Cyril Legum, Judith Raz, Saul Merin and David Benezra

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490302

    2. Parental consanguinity in two sibs with omodysplasia (pages 263–265)

      A. Baxová, P. Maroteaux, J. Barošová and I. Netriová

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490303

    3. Juvenile variant of Schimke immunoosseous dysplasia (pages 266–269)

      Kazuhiro Hashimoto, Ariko Takeuchi, Atsushi Ieshima, Mitsuyoshi Takada and Masaaki Kasagi

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490304

    4. Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia) (pages 270–273)

      Alena Šantavá, Jiřina Zapletalová, Kamila Michálková, Stanislava Hanáková, František Kopřiva, Jiří Šantavý, Jaroslav Dušek and Dušana Kleinová

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490305

    5. Preaxial brachydactyly with abduction of thumbs and hallux varus: A distinct entity (pages 274–277)

      Dr. Anita K. Sharma, Ashutosh Haldar, Shubha R. Phadke and S. S. Agarwal

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490306

    6. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome) (pages 278–280)

      Toshiro Nagai, Gen Nishimura, Hideaki Kasai, Tomonobu Hasegawa, Rumiko Kato, Hirofumi Ohashi and Yoshimitu Fukushima

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490307

    7. Familial 10p trisomy resulting from a maternal pericentric inversion (pages 281–287)

      Chahira Kozma and Jeanne M. Meck

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490308

    8. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma (pages 288–293)

      M. McDonald, S. Maynard, S. Sheldon and Dr. J. Innis

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490309

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Deletion (11)(q14.1q21) (pages 294–298)

      Dr. Robert F. Stratton, Kenneth H. Lazarus, Elizabeth J. L. Ritchie and Ann Marie Bell

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490310

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Investigation of thermoregulatory characteristics in patients with Prader-Willi syndrome (pages 302–307)

      Marc S. Williams, Brenda L. Rooney, Janet Williams, Kevin Josephson and Richard Pauli

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490312

    2. Brachyolmia: An autosomal dominant form (pages 308–312)

      Jessica Gardner and Professor Peter Beighton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490313

    3. Delineatino of the da-Silva syndrome (pages 313–316)

      Kenji Naritomi, Takaya Tohma, Yoshinobu Goya, Noboru Shiroma and Kiyotake Hirayama

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490314

    4. Restoration of half the normal dystrophin sequence in a double-deletion Duchenne muscular dystrophy family (pages 323–327)

      R. C. Hoop, L. S. Russo, D. L. Riconda, L. S. Schwartz and E. P. Hoffman

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490316

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Jarcho-Levin syndrome: Unusual survival in a classical case (pages 328–332)

      Caroline P. McCall, Louanne Hudgins, Michelle Cloutier, Robert M. Greenstein and Suzanne B. Cassidy

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490317

    2. Stratton-Parker syndrome: Confirmation of a new entity (pages 333–336)

      Orazio Gabrielli, Ines Carloni, Carlo Catassi, Giuliana Natalini, Giovanni V. Coppa and Pierluigi Giorgi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490318

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Elevated MSAFP levels and congenital heart defects: Lack of an association (pages 337–340)

      H. Albar, K. M. MacDonald, C. R. Harman, J. A. Evans and B. N. Chodirker

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490319

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Additional case of opsismodysplasia supporting autosomal recessive inheritance (pages 344–347)

      Frits A. Beemer and Kazimierz S. Kozlowski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490321

  8. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles
    1. Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDS (page 348)

      Helga V. Toriello

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490322

    2. Tricho-rhino-phalangeal syndrome type III (pages 349–350)

      Dr. Tadashi Kajii, Isabel Fernandez Gonzalez and Shinya Matsuura

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490323

    3. Reply to Dr. Lacombe (page 353)

      Richard Pauli and Kyna Byerly

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490325

    4. Reply to Sharpe (page 354)

      Kimberly A. Quaid

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490326

    5. Pfeiffer syndrome (page 357)

      Robin M. Winter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490328

    6. Reply to Dr. Winter (pages 358–359)

      Dr. M. Michael Cohen Jr. and Constance M. Barone

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490329

    7. Thrombocytopenia in the Brachmann-de Lange syndrome (page 360)

      Dr. Jean-Pierre Fryns and Lambert Vinken

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490330

    8. Acalvaria and occipital scalp defects (page 361)

      Jean-Pierre Fryns

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490331

    9. Another way to interpret the description of the Monster of Ravenna of the sixteenth century (page 362)

      Dr. María-Luisa Martínez-Frías

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490332

  9. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Letter to the Editors
    10. Articles

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