American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 August 1993

Volume 47, Issue 1

Pages fmi–fmi, 1–160

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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Masthead (page fmi)

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470101

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. True telomeric translocation in a baby with the Prader-Willi phenotype (pages 1–6)

      Dr. Ann Reeve, Andrew Norman, Paul Sinclair, Ruth Whittington-Smith, Yvonne Hamey, Dian Donnai and Andrew Read

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470102

    2. Historical essay: Of monsters and prodigies: The interpretation of birth defects in the sixteenth century (pages 7–13)

      Michael T. Walton, Robert M. Fineman and Phyllis J. Walton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470103

    3. Family with 22-derived marker chromosome and late-onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high-level repeat sequences using fluorescence in situ hybridization (pages 14–19)

      Maire E. Percy, Thomas G. Dearie, Ethylin Wang Jabs, Sharon J. Bauer, Barbara Chodakowski, Martin J. Somerville, Anne Lennox, Donald R. C. McLachlan, Antonio Baldini and Dorothy A. Miller

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470104

  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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): Report of a new case (pages 20–23)

      S. Martínez Santana, F. Pérez Alvarez, J. L. Frías and M.-L. Martínez-Frías

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470105

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Further delineation of the epidermal nevus syndrome: Two cases with new findings and literature review (pages 24–30)

      Dr. Theresa A. Grebe, Mary E. Rimsza, Sarah F. Richter, Ronald C. Hansen and H. Eugene Hoyme

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470106

    2. Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome (pages 31–36)

      Moshe Frydman, Elke Jager-Roman, Liat de Vries, Gisela Stoltenburg-Didinger, Moshe Nussinovitch and Lea Sirota

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470107

  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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease (pages 37–40)

      Hanna Mandel, Riva Brik, Ruth Ludatscher, Jacob Braun and Moshe Berant

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470108

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Lethal multiple pterygium syndrome: Report of a case with neurological anomalies (pages 45–49)

      Dr. D. J. Spearritt, A. E. G. Tannenberg and D. J. Payton

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470110

  7. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly (pages 50–53)

      Maurizio Genuardi, Carlo Dionisi-Vici, Gaetano Sabetta, Massimo Mignozzi, Gianfranco Rizzoni, Giovanna Cotugno and Maria Enrica Martini Neri

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470111

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality (pages 54–58)

      Philippe Moerman, Kamiel Vandenberghe, Hugo Devlieger, Chris Van Hole, Jean-Pierre Fryns and Joseph M. Lauweryns

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470112

    2. Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy (pages 59–64)

      Claudette Hajaj Gonzalez, Fernando R. Vargas, Ana Beatriz Alvarez Perez, Chong Ae Kim, Decio Brunoni, Maria Joaquina Marques-Dias, Clea R. Leone, JordãO Correa Neto, Juan C. Llerena Jr. and José Carlos Cabral de Almeida

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470113

    3. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family (pages 65–68)

      Laurie S. Sadler and Luther K. Robinson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470114

    4. Severe axial anomalies in the oculo-auriculo-vertebral (Goldenhar) complex (pages 69–74)

      Dr. José Ignacio Rodríguez, José Palacios and Pablo Lapunzina

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470115

    5. Interrelationships of the hemifacial microsomia-VATER, VATER, and sirenomelia phenotypes (pages 75–84)

      Dr. Peter A. Duncan and Lawrence R. Shapiro

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470116

    6. Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries (pages 85–88)

      Anthonie J. van Essen, Coen J. F. Schoots, Richard A. van Lingen, Marian J. E. Mourits, Joep H. A. M. Tuerlings and Bieke Leegte

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470117

  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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Jancar syndrome: Mental retardation, spasticity, and distal transverse limbs defects (pages 89–90)

      Dr. Joël Zlotogora and Benjamin Glick

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470118

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Cancer in twins of Wilms tumor patients (pages 91–94)

      Dr. Jane M. Olson, Norman E. Breslow and Jean Barce

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470119

    2. Norman-Roberts syndrome: Clinical and molecular studies (pages 95–99)

      Paola Iannetti, Charles E. Schwartz, Jeanne Dietz-Band, Elizabeth Light, Julie Timmerman and Luciana Chessa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470120

    3. Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels (pages 100–105)

      Mr. Andrew M. Fisher, John C. K. Barber, John A. Crolla, Rowena S. James, Andres N. Lestas, Ian Jennings and Nicholas R. Dennis

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470121

  11. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Multiple pterygium syndrome with body asymmetry (pages 106–111)

      Dr. Patrick J. Willems, Cecile Colpaert, Myriam Vaerenbergh, Marie-Noëlle Van Thienen, Paul M. Parizel, Eric Van Marck, Walter H. Schuerwegh and Jean-Jecques Martin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470122

  12. 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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Absence of excess chromosome breakage in a patient with VACTERL-hydrocephalus (pages 112–113)

      Dr. Jane A. Evans and Bernard N. Chodirker

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470123

  13. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance (pages 114–117)

      Dr. Hungshu Wang, Alasdair G. W. Hunter, Brian Clifford, Margaret McLaughlin and Diane Thompson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470124

  14. 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. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Second family with “apple peel” syndrome affecting four siblings: Autosomal recessive inheritance confirmed (pages 119–121)

      Dr. Talaat I. Farag, Sadika A. Al-Awadi, Magda H. El-Badramany, R. Usha and Mohammed El-Ghanem

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470126

    2. Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy (pages 122–123)

      Marie-Claire Gubler and Dr. Micheline Levy

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470127

    3. Reply to Drs. Gubler and Levy: Nail-patella syndrome in a spontaneously aborted 18-week fetus (page 124)

      Enid Gilbert-Barness and Monica Drutt

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470128

    4. Peters' plus syndrome (page 125)

      José Carlos Cabral de Almeida and Juan C. Llerena Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470129

    5. Waardenburg syndrome and meningomyelocele (page 126)

      Maria L. Moline and Constance Sandlin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470130

  15. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Conference report The Second International Symposium on the Marfan Syndrome (pages 127–135)

      Reed E. Pyeritz and Uta Francke

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470131

    2. The joining circles (pages 136–142)

      Cheryll Gasner

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470132

  16. Abstracts

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Brief Clinical Report
    11. Articles
    12. Brief Clinical Report
    13. Letter to the Editors
    14. Articles
    15. Letter to the Editors
    16. Articles
    17. Abstracts
    1. Second International Symposium on the Marfan Syndrome (pages 143–160)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470133

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