American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 August 2002

Volume 111, Issue 2

Pages 115–231

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Further delineation of cardiac abnormalities in Costello syndrome (pages 115–129)

      Angela E. Lin, Paul D. Grossfeld, Robert M. Hamilton, Leslie Smoot, Karen W. Gripp, Virginia Proud, Rosanna Weksberg, Patricia Wheeler, Jonathan Picker, Mira Irons, Elaine Zackai, Bradley Marino, Charles I. Scott Jr. and Linda Nicholson

      Version of Record online: 11 JUN 2002 | DOI: 10.1002/ajmg.10558

    2. Facial appearance in persistent hyperinsulinemic hypoglycemia (pages 130–133)

      Pascale de Lonlay, Valérie Cormier-Daire, Jeanne Amiel, Guy Touati, Alice Goldenberg, Jean-Christophe Fournet, Francis Brunelle, Claire Nihoul-Fékété, Jacques Rahier, Claudine Junien, Jean-Jacques Robert and Jean-Marie Saudubray

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10463

    3. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: Implications for the mechanism leading to generation of a 45,X karyotype (pages 134–139)

      Ayumi Uematsu, Tohru Yorifuji, Junko Muroi, Masahiko Kawai, Mitsukazu Mamada, Masayuki Kaji, Chutaro Yamanaka, Toru Momoi and Tatsutoshi Nakahata

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10506

    4. Dendritic spine and dendritic field characteristics of layer V pyramidal neurons in the visual cortex of fragile-X knockout mice (pages 140–146)

      Scott A. Irwin, Madhuri Idupulapati, Molly E. Gilbert, Jennifer B. Harris, Aparna B. Chakravarti, Erica J. Rogers, Ralph A. Crisostomo, Brian P. Larsen, Amit Mehta, C.J. Alcantara, Biraju Patel, Rodney A. Swain, Ivan Jeanne Weiler, Ben A. Oostra and William T. Greenough

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10500

    5. Genetic counseling in hereditary breast/ovarian cancer in Israel: Psychosocial impact and retention of genetic information (pages 147–151)

      Michal DiCastro, Moshe Frydman, Irit Friedman, Ronit Shiri-Sverdlov, Moshe Z. Papa, Boleslaw Goldman and Eitan Friedman

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10550

    6. Further evidence for a fourth gene causing X-linked pure spastic paraplegia (pages 152–156)

      A. Starling, P. Rocco, F. Cambi, G.M. Hobson, M.R. Passos Bueno and M. Zatz

      Version of Record online: 13 JUN 2002 | DOI: 10.1002/ajmg.10551

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Omodysplasia: An affected mother and son (pages 169–177)

      Charles P. Venditti, Jennifer Farmer, Karen L. Russell, Christopher A. Friedrich, Craig Alter, Douglas Canning, Linton Whitaker, Michael T. Mennuti, Deborah A. Driscoll and Elaine H. Zackai

      Version of Record online: 25 JUL 2002 | DOI: 10.1002/ajmg.10555

  3. New Syndrome

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Four cases with hypoplastic thumbs and encephaloceles (pages 178–181)

      Taosheng Huang, Mark S. Korson, Celeste Krauss and Lewis B. Holmes

      Version of Record online: 25 JUL 2002 | DOI: 10.1002/ajmg.10439

  4. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy (pages 195–201)

      Johan L.K. Van Hove, Rita Van Damme-Lombaerts, Stephanie Grünewald, Heidi Peters, Boudewijn Van Damme, Jean-Pierre Fryns, Jozef Arnout, Ron Wevers, E. Regula Baumgartner and Brian Fowler

      Version of Record online: 25 JUL 2002 | DOI: 10.1002/ajmg.10499

    2. A 45,X sterile male with Yp disguised as 21p (pages 202–204)

      Ingrid P. Dávalos, Horacio Rivera, Ana I. Vásquez, Melva Gutiérrez-Angulo, Martha C. Hernández-Vázquez, Fidel A. Cortina-Luna, Luis E. Wong-Ley and María G. Domínguez-Quezada

      Version of Record online: 25 JUL 2002 | DOI: 10.1002/ajmg.10536

    3. Further case of Cantú syndrome: Exclusion of cryptic subtelomeric chromosome aberrations (pages 205–209)

      Hartmut Engels, Kristin Bosse, Antje Ehrbrecht, Susanne Zahn, Alexander Hoischen, Peter Propping, Lutz Bindl and Heiko Reutter

      Version of Record online: 25 JUL 2002 | DOI: 10.1002/ajmg.10560

    4. Posterior urethral valves and mirror image anomalies in monozygotic twins (pages 210–212)

      Francesco Morini, Michele Ilari, Alessandra Casati, Antonietta Piserà, Lucia Oriolo and Denis A. Cozzi

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10563

  5. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Revaluation twenty-three years later of a supernumerary derivative chromosome 9 (pages 213–214)

      Catherine Yardin, Françoise Esclaire, Faraj Terro, Dominique Barthe and Brigitte Gilbert

      Version of Record online: 19 JUN 2002 | DOI: 10.1002/ajmg.10548

    2. Report of 46,XX/46,XY/47,XXY/48,XXYY mosaicism in an adult phenotypic male (pages 215–217)

      Lurdes Zamora, Blanca Espinet, Marta Salido, Francesc Solé, Cristina Ligorria and Lourdes Florensa

      Version of Record online: 29 MAY 2002 | DOI: 10.1002/ajmg.10561

    3. Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects (pages 218–219)

      Alexandre R. Vieira, Dimitri Trembath, Don C. Vandyke, Jeffrey C. Murray, Stephen Marker, Gary Lerner, Erin Bonner and Marcy Speer

      Version of Record online: 11 JUN 2002 | DOI: 10.1002/ajmg.10568

  6. Research Review

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
  7. Book Review

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
  8. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. New Syndrome
    5. Clinical Report
    6. Research Letter
    7. Research Review
    8. Book Review
    9. Correspondence
    1. Somatic mosaicism and variable expression of Townes-Brocks syndrome (pages 230–231)

      Koen Devriendt, Jean-Pierre Fryns, Francis Lemmens, Jürgen Kohlhase and Manuela Liebers

      Version of Record online: 19 JUN 2002 | DOI: 10.1002/ajmg.10485

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