American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 September 1992

Volume 44, Issue 1

Pages fmi–fmi, 1–128

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. Letters to the Editor
    11. Articles
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440101

  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. Letters to the Editor
    11. Articles
    1. Marked parental consanguinity as a cause for increased major malformations in an Israeli Arab community (pages 1–6)

      Lutfi Jaber, Paul Merlob, Xiangdong Bu, Jerome I. Rotter and Dr. Mordechai Shohat

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440102

    2. Double mosaic aneuploidy: 45, X/47,XY,+8 in a male infant (pages 7–10)

      B. Schofield, A. Babu, D. Punales-Morejon, S. Popescu, E. Leiter, B. Franklin and Dr. V. B. Penchaszadeh

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440103

  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. Letters to the Editor
    11. Articles
    1. Ullrich-turner syndrome with unilateral agenesis of breast, nipple, and pectoralis major (pages 11–12)

      Amnon Cohen, Antonella Lavagetto and Cesare Romano

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440104

  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. Letters to the Editor
    11. Articles
    1. Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome? (pages 13–17)

      W. Hardikar, Dr. A. L. Smith, C. G. Keith and C. W. Chow

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440105

    2. 7p Deletion syndrome: An adult with mild manifestations (pages 18–23)

      Theresa A. Grebe, Mark A. Stevens, Karen Byrne-Essif and Dr. Suzanne B. Cassidy

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440106

    3. Unbalanced translocation 46,xy,−15,+der(22)t(15;22)(q13;q11)pat: Case report and review of the literature (pages 24–30)

      Johan L. K. Van Hove, Allyn McConkie-Rosell, Yuan-Tsong Chen, A. Kimberly Iafolla, Joseph T. Lanman Jr., Mark D. Hennessy and Stephen G. Kahler

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440107

  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. Letters to the Editor
    11. Articles
    1. Unusual short rib-polydactyly syndrome (pages 31–36)

      Yung-Chieh Tsai, Jye-Min Chang, Chan-Chao Changchien, Hock-Liew Eng, Wei-Jen Chen, Chun-Chung Lui and Churng-Bin Huang

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440108

  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. Letters to the Editor
    11. Articles
    1. Early neurological manifestations and brain anomalies in marden-walker syndrome (pages 41–45)

      Dr. Alfredo García-Alix, Dorotea Blanco, Fernando Cabañas, Pilar Garcia Sanchez, Adelina Pellicer and Jose Quero

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440110

  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. Letters to the Editor
    11. Articles
  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. Letters to the Editor
    11. Articles
    1. Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: A dominant disease with manifestations of Weill-Marchesani syndromes (pages 48–51)

      Dr Alain Verloes, Jean-Paul Hermia, Albert Galand, Lucien Koulischer and Pol Dodinval

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440112

    2. Hawkinsinuria in two families (pages 52–56)

      Margaret Borden, Jan Holm, Jack Leslie, Lawrence Sweetman, Dr. William L. Nyhan, Lynn Fleisher, Henry Nadler, David Lewis and C. Ronald Scott

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440113

    3. Congenital anomalies concomitant with persistent primary congenital hypothyroidism (pages 57–60)

      Ran Siebner, Paul Merlob, Igor Kaiserman and Professor Joseph Sack

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440114

    4. Xp22.3 Microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects (pages 61–65)

      Noralane M. Lindor, Dr. Virginia V. Michels, Daniel A. Hoppe, David J. Driscoll, Jacqueline A. Leavitt and Gordon W. Dewald

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440115

    5. Anencephaly and limb deficiencies (pages 66–71)

      Dr. José Ignacio Rodríguez, José L. Rodríguez-Peralto, Marta Muro, Miguel Urioste and José Palacios

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440116

    6. First prenatal diagnosis of X-linked lymphoproliferative disease (pages 79–81)

      Dr. James Skare, Suneeta Madan, Joy Glaser, David Purtilo, Harold Nitowsky, Venkat Pulijaal and Aubrey Milunsky

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440119

    7. Beare-Stevenson cutis gyrata syndrome (pages 82–89)

      Bryan D. Hall, Ronald G. Cadle, Mahin Golabi, Colleen A. Morris and Dr. M. Michael Cohen Jr.

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440120

    8. Upper and lower airway compromise in the apert syndrome (pages 90–93)

      Dr. M. Michael Cohen Jr. and Sven Kreiborg

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440121

    9. DNA-Testing for Huntington's disease in The Netherlands: A retrospective study on psychosocial effects (pages 94–99)

      Aad Tibben, Maria Vegter-Van Der Vlis, Mette I. Skraastad, Petra G. Frets, Jacques J. P. Van Der Kamp, Martinus F. Niermeijer, Gert-Jan B. Van Ommen, Raymund A. C. Roos, Harry G. M. Rooijmans, Dick Stronks and Frans Verhage

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440122

    10. Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II (pages 100–103)

      Michael Beck, Cordula Steglich, Bernhard Zabel, Niklas Dahl, Eberhard Schwinger, John J. Hopwood and Andreas Gal

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440123

  9. Letters to the Editor

    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. Letters to the Editor
    11. Articles
    1. Fetal indomethacin exposure and renal dysgenesis (pages 112–113)

      Dr. Geoffrey A. Machin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440125

    2. Reply to Dr. Machin (page 114)

      Dr. Bernard S. Kaplan, Irene Restaino and Paige Kaplan

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440126

    3. Reply to Dr. Teebi (page 117)

      Dr. A. Richieri-Costa

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440128

    4. Survey of mentally retarded males for cutis verticis gyrata and chromosomal fragile sites (pages 118–119)

      George A. Dahir, Lora K. Miller and Merlin G. Butler

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440129

    5. Parental origin of the X chromosomes in rett syndrome (pages 121–122)

      Laure Benedetti, Arnold Munnich, Dr. Judith Melki, Marc Tardieu and Catherine Turleau

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440131

    6. Reply to Dr. Benedetti et al (page 123)

      Dr. Maria Anvret and Jan Wahlström

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320440132

    7. Delayed spontaneous pubertal growth spurt in girls with ullrich-turner syndrome (pages 124–125)

      Dr. G. Massa and M. Vanderschueren-Lodeweyckx

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440133

  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. Letters to the Editor
    11. Articles
    1. Confirmation of assigment of a locus for rubinstein-taybi syndrome gene to 16p13.3 (pages 126–128)

      Dr. Didier Lacombe, Robert Saura, Laurence Taine and Jacques Battin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320440134

SEARCH

SEARCH BY CITATION