American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 September 1991

Volume 40, Issue 3

Pages fmi–fmi, 255–386

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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Masthead (page fmi)

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400301

  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Keratitis, hepatitis, ichthyosis, and deafness: Report and review of KID syndrome (pages 255–259)

      Golder N. Wilson, Robert H. Squires Jr. and Arthur G. Weinberg

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400302

    2. Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions (pages 260–263)

      Shin-Ichiro Nishimura, Hiroyuki Masuda, Takahiko Matsumoto, Nobuo Sakura, Tomoaki Matsumoto and Kazuhiro Ueda

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400303

    3. Jarcho-Levin syndrome: Four new cases and classification of subtypes (pages 264–270)

      Pamela S. Karnes, Deborah Day, Susan A. Berry and Mary Ella M. Pierpont

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400304

    4. Clinico-pathological report: A 7-year old white-male boy with progressive neurological deterioration (pages 271–279)

      Lewis A. Barness, Keith Henry, Pamela Kling, Renata Laxova, Michael Kaback and Enid Gilbert-Barness

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400305

    5. Partial duplication of Xp: A case report and review of previously reported cases (pages 280–283)

      Herman E. Wyandt, Lucille Bugeau-Michaud, James C. Skare and Aubrey Milunsky

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400306

    6. Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence (pages 284–289)

      Dr. José Ignacio Rodríguez and José Palacios

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400307

    7. Oculocerebrocutaneous (Delleman) syndrome: A pleiotropic disorder affecting ectodermal tissues with unilateral predominance (pages 290–293)

      Joe J. Hoo, Kathleen Kapp-Simon, Beverly Rollnick and Margaret Chao

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400308

    8. Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease (pages 294–297)

      Helen L. Grierson, James Skare, John Hawk, Mary Pauza and David T. Purtilo

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400309

    9. Characteristics of the postcounseling reproductive decision-making process: An explorative study (pages 298–303)

      Petra G. Frets, Frans Verhage and Martinus F. Niermeijer

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400310

  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Spondylo-metaphyseal dysplasia Algerian type: Confirmation of a new syndrome (pages 304–306)

      M. Rybak, T. P. Foley and Dr. K. Kozlowski

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400311

    2. Baller-Gerold syndrome associated with congenital hydrocephalus (pages 307–310)

      M. E. Suzanne Lewis, Peter L. Rosenbaum and Dr. Bosco A. Paes

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400312

  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. Articles
    12. Brief Clinical Reports
    13. Articles
  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome (pages 316–318)

      Rena Petrella, Kurt Hirschhorn and James German

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400314

  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Adams-Oliver syndrome revisited (pages 319–326)

      Chester B. Whitley and Robert J. Gorlin

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400315

  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Variable expression of vision in sibs with albinism (pages 327–331)

      C. Gail Summers, Donnell Creel, Dewayne Townsend and Richard A. King

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400316

  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. Articles
    12. Brief Clinical Reports
    13. Articles
  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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Frontofacionasal dysplasia (pages 338–340)

      Evelyn W. White, Ramon Figueroa and David B. Flannery

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400318

  10. 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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Cataracts, aberrant oral frenula, and growth retardation: A new autosomal dominant syndrome (pages 341–342)

      Dr. Diana Wellesley, Paul Carman, Noel French and Jack Goldblatt

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400319

  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. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)) (pages 343–344)

      J. P. Fryns, J. Bulcke, P. Verdu, H. Carton, A. Kleczkowska and H. van den Berghe

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400320

  12. 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. Articles
    12. Brief Clinical Reports
    13. Articles
    1. Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and α-L-fucosidase 2 (pages 348–353)

      Kouji Narahara, Kazushiro Tsuji, Yuji Yokoyama, Hiroshi Namba, Masae Murakami, Tsunenori Matsubara, Ryozo Kasai, Yoshimitsu Fukushima, Takashi Seki, Keiko Wakui and Yoshiki Seino

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400322

    2. Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients (pages 365–369)

      Simonetta Sangiorgi, Alessandra Ferlini, Adele Zanetti and Mirella Mochi

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320400324

    3. Balanced complex chromosomal rearrangements with more than four breakpoints: Report of a new case (pages 370–373)

      Marianne Till, Françoise Devillard, Pierre Crost, Monique Bachy, Fabienne Prieur and Marie-Françoise Berthéas

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400325

    4. Non-random association between DNA markers and Huntington disease locus in the Italian population (pages 374–376)

      Andrea Novelletto, Paola Mandich, Emilia Bellone, Patrizia Malaspina, Giuseppa Vivona, Franco Ajmar and Marina Frontali

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400326

    5. DNA analysis in patients with lissencephaly type I and other cortical dysplasias (pages 383–386)

      B. A. Oostra, J. F. de Rijk-van Andel, H. J. Eussen, J. O. van Hemel, D. J. J. Halley and M. F. Niermeijer

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320400328

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