American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 April 1991

Volume 39, Issue 1

Pages fmi–fmi, 1–124

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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Masthead (page fmi)

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390101

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Huntington disease and childhood-onset Tourette syndrome (pages 1–3)

      Jacob Kerbeshian, Larry Burd, Cindi Leech and Anne Rorabaugh

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390102

    2. Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course (pages 4–10)

      Pierre Maroteaux, Alain Verloes, Victor Stanescu and Ritta Stanescu

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390103

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Holoprosencephaly in a newborn girl with 46,XX,i(18q) (pages 11–12)

      Nancy B. Spinner, Deborah L. Eunpu, Jocelyn R. Austria and Peter Mamunes

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390104

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy (pages 13–18)

      Galen N. Breningstall, Warren D. Grover and Harold G. Marks

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390105

    2. Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome? (pages 19–24)

      David S. Wargowski, David Chitayat, R. Wes Tyson, Margaret G. Norman and J. M. Friedman

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390106

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Sirenomelia and anencephaly (pages 25–27)

      Dr. José Ignacio Rodríguez, José Palacios and Socorro Razquin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390107

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Characterization of the calcitonin/CGRP gene in Williams syndrome (pages 28–33)

      Andrew F. Russo, Katayoun Chamany, Steven W. Klemish, Todd M. Hall and Jeffrey C. Murray

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390108

    2. Bartsocas-Papas syndrome: Three familial cases from Spain (pages 34–37)

      Dr. M. L. Martínez-Frías, J. L. Frías, I. Vazquez and J. Fernández

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390109

    3. Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies (pages 38–41)

      Mariz Vainzof, Rita C. M. Pavanello, Ivo Pavanello-Filho, Debora Rapaport, Maria Rita Passos-Bueno, Elizabeth E. Zubrzycka-Gaarn, Dennis E. Bulman and Mayana Zatz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390110

    4. 45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases (pages 42–47)

      M. J. Pettenati, M. Wheeler, D. J. Bartlett, I. Subrt, N. Rao, R. L. Kroovand, B. K. Burton, S. Kahler, H. K. Park, P. Cosper, D. R. Kelly and J. D. Ranells

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390111

    5. CHARGE association: Clinical manifestations and developmental outcome (pages 48–55)

      A. Simon Harvey, Patricia M. Leaper and Dr. Agnes Bankier

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390112

    6. Deletion of 20p 11.23[RIGHTWARDS ARROW]pter with normal growth hormone-releasing hormone genes (pages 56–63)

      M. Shohat, V. Herman, S. Melmed, N. Neufeld, R. Schreck, S. Pulst, J. M. Graham Jr., D. L. Rimoin and J. R. Korenberg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390113

    7. Risks associated with an elevated amniotic fluid α-fetoprotein level (pages 64–67)

      Dr. Barbara F. Crandall and Myles Matsumoto

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390114

    8. Three years' experience with neonatal screening for Duchenne/Becker Muscular dystrophy: Gene analysis, gene expression, and phenotype prediction (pages 68–75)

      Cheryl R. Greenberg, Hans K. Jacobs, William Halliday and Klaus Wrogemann

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390115

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Prenatal diagnosis of 48,XYY, + 21 ascertained through ultrasound anomalies (pages 76–77)

      Thomaz Rafael Gollop, Nadyr F. Naccache, Eloisa Auler-Bittencourt, Decio Hauschild, Alberto Eigier and Deborah K. Zveibil

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390116

    2. Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. Family (pages 78–80)

      Col. Robert F. Stratton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390117

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. “Pseudomosaicism” for 4p – in amniotic fluid cell culture proven to be true mosaicism after birth (pages 81–83)

      Jerry Vockley, JoAnn Inserra, W. Roy Breg and Dr. Teresa L. Yang-Feng

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320390118

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis (pages 84–90)

      Margaret L. Smith, Ocean L. Pellett, Timothy C. Cahill, Denise N. David, Frederick J. Kaskel, Lori A. Smolin, Alice A. Greene, Karen Weissbecker, Michael Dean and Jerry A. Schneider

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390119

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Familial congenital micromelic dysplasia with dislocation of radius and distinct face: A new skeletal dysplasia syndrome (pages 91–96)

      Zvi Borochowitz, Mila Barak and Silvia Hershkowitz

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390120

    2. Sex chromosome marker: Clinical significance and DNA characterization (pages 97–101)

      Dr. Virginia P. Johnson, Paul G. McDonough, Sau W. Cheung and Li Sun

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390121

    3. Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations (pages 102–105)

      Katharine D. Wenstrom, Ann C. Muilenburg, Shivanand R. Patil and James W. Hanson

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390122

  11. Animal Model

    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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Prenatal lesions in an ovine fetus with GM1 gangliosidosis (pages 106–111)

      Robert D. Murnane, Raymond W. Wright Jr., Amelia J. Ahern-Rindell and David J. Prieur

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390123

  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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation (pages 112–115)

      Albert David, André Gordeeff, Jean Badoual and Jean Delaire

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320390124

  13. 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. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Agenesis of the nasal septal cartilage: Another sign in autosomal dominant holoprosencephaly (pages 121–122)

      Raoul C. M. Hennekam, Gerard Van Noort, Fred A. de la Fuente and Obbe F. Norbruis

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390127

  14. Rapid Publication

    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. Animal Model
    13. Articles
    14. Letter to the Editors
    15. Rapid Publication
    1. Prenatal diagnosis of hereditary amyloidosis in a Portuguese family (pages 123–124)

      Dr. Michael Morris, William Nichols and Merrill Benson

      Article first published online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320390128

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