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American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

6 March 2000

Volume 91, Issue 1

Pages 1–85

Currently known as: American Journal of Medical Genetics Part A

    1. Distress in MEN 2 family members and partners prior to DNA test disclosure (pages 1–7)

      Frans J.M. Grosfeld, Cornelis J.M. Lips, Frits A. Beemer, Geert H. Blijham, Jac M.S.P. Quirijnen, Michiel P. Mastenbroek and Herman F.J. ten Kroode

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<1::AID-AJMG1>3.0.CO;2-9

    2. Quantitative approach to identifying abnormal variation in the human face exemplified by a study of 278 individuals with five craniofacial syndromes (pages 8–17)

      Richard E. Ward, Paul L. Jamison and Judith E. Allanson

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<8::AID-AJMG2>3.0.CO;2-#

  2. Brief Clinical Report

    1. Top of page
    2. Brief Clinical Report
    3. Letter to the Editor
    1. Duplication of chromosome region 8p23.1 → p23.3: A benign variant? (pages 18–21)

      J.J.M. Engelen, U. Moog, J.L.H. Evers, H. Dassen, J.C.M. Albrechts and A.J.H. Hamers

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3

    1. Fetomaternal cell trafficking: A new cause of disease? (pages 22–28)

      Diana W. Bianchi

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<22::AID-AJMG4>3.0.CO;2-3

    2. A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and severe neurological deficits (pages 29–33)

      Kathrin Schilke, Franz Schaefer, Rüdiger Waldherr, Wiltrud Rohrschneider, Christoph John, Urban Himbert, Ertan Mayatepek and Gholamali Tariverdian

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<29::AID-AJMG5>3.0.CO;2-U

    3. Familial hypercholesterolemia study in Sardinia using 6 LDLR polymorphic markers based on PCR (pages 34–38)

      Sandro Orrù, Silvia Pintor, Annalisa Loizedda, Erika Giuressi, Roberta Murru, Mirella Casula, Carlo Carcassi, Luca Deiana and Licinio Contu

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<34::AID-AJMG6>3.0.CO;2-T

    4. Pathogenesis of chromosomal mosaicism and its effect on early human development (pages 39–45)

      Dagmar K. Kalousek

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<39::AID-AJMG7>3.0.CO;2-L

    5. Imprinted H19 gene expression in embryogenesis and human cancer: The oncofetal connection (pages 46–50)

      Ilana Ariel, Nathan de Groot and Abraham Hochberg

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<46::AID-AJMG8>3.0.CO;2-I

    6. Detection of submicroscopic subtelomeric chromosome translocations: A new case study (pages 51–55)

      Pamela Warburton, Shehla Mohammed and Caroline Mackie Ogilvie

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<51::AID-AJMG9>3.0.CO;2-H

    7. Possible case of Rubinstein-Taybi syndrome in a prehistoric skeleton from west-central Illinois (pages 56–61)

      Alicia Kay Wilbur

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<56::AID-AJMG10>3.0.CO;2-W

    8. Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia? (pages 62–65)

      Alan E. Guttmacher and J.R. Callahan

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<62::AID-AJMG11>3.0.CO;2-3

    9. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) (pages 66–67)

      Claire L. Shovlin, Alan E. Guttmacher, Elisabetta Buscarini, Marie E. Faughnan, Robert H. Hyland, Cornelius J.J. Westermann, Anette D. Kjeldsen and Henri Plauchu

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<66::AID-AJMG12>3.0.CO;2-P

    10. Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy (pages 68–73)

      Stefanie Hermann, Frank Schestag, Andreas Polten, Sabine Kafert, Johann Penzien, Joel Zlotogora, Nicole Baumann and Volkmar Gieselmann

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<68::AID-AJMG13>3.0.CO;2-G

    11. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue (pages 74–82)

      Ayala Aviram-Goldring, Barbara Fritz, Christine Bartsch, Elke Steuber, Michal Daniely, Dorit Lev, Rina Chaki, Gad Barkai, Moshe Frydman and Helga Rehder

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<74::AID-AJMG14>3.0.CO;2-O

  4. Letter to the Editor

    1. Top of page
    2. Brief Clinical Report
    3. Letter to the Editor
    1. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome (pages 83–85)

      Laurent Villard, Michel Fontès, Lesley C. Adès and Jozef Gecz

      Article first published online: 17 MAR 2000 | DOI: 10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.0.CO;2-N

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