American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 October 1994

Volume 52, Issue 4

Pages fmi–fmi, 399–505

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 Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Diploid/triploid mosaicism: Further delineation of the phenotype (pages 399–401)

      Dr. Gerson Carakushansky, Evelyn Teich, Marcia G. Ribeiro, Dafne D. G. Horowitz and Sandra Pellegrini

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520402

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Poland anomaly with unusual associated anomalies: Case report of an apparent disorganization defect (pages 402–405)

      Madhulika Kabra, Mohnish Suri, Usha Jain and Ishwar C. Verma

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520403

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome? (pages 406–415)

      Dr. David Chitayat, Lori Moore, Marc R. Del Bigio, Daune MacGregor, Bruria Ben-Zeev, Kathy Hodgkinson, John Deck, Tammy Stothers, Susan Ritchie and Ants Toi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520404

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Fetal t(5p;21q) misdiagnosed as monosomy 21: A plea for in situ hybridization studies (pages 416–418)

      Prabhcharan Gill, Stefanie Uhrich, Christine Disteche and Edith Cheng

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520405

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Joubert syndrome with congenital hepatic fibrosis: An entity in the spectrum of oculo-encephalo-hepato-renal disorders (pages 419–426)

      S. M. E. Lewis, E. A. Roberts, M. A. Marcon, E. Harvey, M. J. Phillips, S. A. Chuang, J. R. Buncie and J. T. R. Clarke

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520406

    2. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome (pages 427–431)

      Cathy A. Stevens, Carolyn McClanahan, Audrey Steck, Fergus O'M. Shiel and John C. Carey

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520407

    3. New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability (pages 432–437)

      W. Reardon, C. M. Hall, D. G. Shaw, B. Kendall, R. Hayward and R. M. Winter

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520408

    4. Ancient, highly polymorphic human major histocompatibility complex DQA1 intron sequences (pages 438–444)

      Malcolm D. McGinnis, Roger V. Lebo, David L. Quinn and Malcolm J. Simons

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520409

    5. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region (pages 445–449)

      Robert E. Nickel, De-Ann M. Pillers, Mark Merkens, R. Ellen Magenis, Deborah A. Driscoll, Beverly S. Emanuel and Jonathan Zonana

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520410

    6. Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity (pages 450–461)

      Dr. Dilys M. Parry, Roswell Eldridge, Muriel I. Kaiser-Kupfer, Evrydiki A. Bouzas, Anita Pikus and Nicholas Patronas

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520411

    7. Familial total anomalous pulmonary venous return: A large Utah-Idaho family (pages 462–466)

      Steven Bleyl, Herbert D. Ruttenberg, John C. Carey and Kenneth Ward

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520412

  7. Historical Essay

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions (pages 478–482)

      Dr. Giuseppe Scirè, Bruno Dallapiccola, Paola Iannetti, Francesco Bonaiuto, Cinzia Galasso, Rita Mingarelli and Brunetto Boscherini

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520415

  9. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Monozygotic twins discordant for spondylocostal dysostosis (pages 483–486)

      Marie-Noëlle Van Thienen and Bart J. Van der Auwera

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520416

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
  11. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. Johnson-McMillin syndrome: Report of another family (page 493)

      Agnes Bankier and Catherine M. Rose

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520419

    2. Reply to Dr. Rose and Dr. Bankier (page 494)

      Raoul C. M. Hennekam

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520420

    3. Form of 15q proximal duplication appears to be a normal euchromatic variant (pages 495–497)

      Syed M. Jalal, Diane L. Persons, Gordon W. Dewald and Noralane M. Lindor

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520421

    4. Craniofrontonasal dysostosis and the Poland anomaly (page 498)

      Dr. Stephen B. Cantrell, James A. Trott, Mark H. Moore and David J. David

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520422

  12. Book Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Historical Essay
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editors
    13. Book Received
    1. You have free access to this content
      Books received (page 505)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520423

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