American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

30 July 2004

Volume 128A, Issue 3

Pages 223–331

  1. Rapid Publication

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis (pages 223–231)

      Cedric Shackleton, Josep Marcos, Ewa M. Malunowicz, Maria Szarras-Czapnik, Petr Jira, Norman F. Taylor, Nuala Murphy, Ellen Crushell, Michael Gottschalk, Berthold Hauffa, Deborah L. Cragun, Robert J. Hopkin, Masanori Adachi and Wiebke Arlt

      Article first published online: 5 APR 2004 | DOI: 10.1002/ajmg.a.30104

  2. Research Articles

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: Report and review of Micro syndrome (pages 232–234)

      Murat Derbent, Pinar Isık Agras, Şansal Gedik, Sibel Oto, Füsun Alehan and Ümit Saatçi

      Article first published online: 17 MAY 2004 | DOI: 10.1002/ajmg.a.30109

  3. Research Reviews

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. MICRO syndrome: An entity distinct from COFS syndrome (pages 235–245)

      John M. Graham Jr, Raoul Hennekam, William B. Dobyns, Elizabeth Roeder and David Busch

      Article first published online: 20 MAY 2004 | DOI: 10.1002/ajmg.a.30060

  4. Research Articles

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Perrault syndrome: Evidence for progressive nervous system involvement (pages 246–249)

      Agata Fiumara, Giovanni Sorge, Antonio Toscano, Enrico Parano, Lorenzo Pavone and John M. Opitz

      Article first published online: 17 MAY 2004 | DOI: 10.1002/ajmg.a.20616

    2. A new insight into fragile X syndrome among Basque population (pages 250–255)

      Olga Peñagarikano, Alberto Gil, Mercedes Télez, Begoña Ortega, Piedad Flores, Isabel Veiga, Ana Peixoto, Begoña Criado and Isabel Arrieta

      Article first published online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30116

    3. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children (pages 256–260)

      Ana Claudia M. Aléssio, Joyce M. Annichino-Bizzacchi, Sergio P. Bydlowski, Marcos N. Eberlin, Adriana P. Vellasco and Nelci Fenalti Höehr

      Article first published online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30108

    4. Medical privacy and the disclosure of personal medical information: The beliefs and experiences of those with genetic and other clinical conditions (pages 261–270)

      Nancy E. Kass, Sara Chandros Hull, Marvin R. Natowicz, Ruth R. Faden, Laura Plantinga, Lawrence O. Gostin and Julia Slutsman

      Article first published online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30057

    5. Phenotype and X inactivation in 45,X/46,X,r(X) cases (pages 276–284)

      Kathleen A. Leppig, Virginia P. Sybert, Judith L. Ross, Christopher Cunniff, Tina Trejo, Wendy H. Raskind and Christine M. Disteche

      Article first published online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30002

    6. Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial (pages 285–293)

      Theresa Marteau, Victoria Senior, Steve E. Humphries, Martin Bobrow, Treena Cranston, Martin A. Crook, Lorna Day, Maryam Fernandez, Rob Horne, Andrew Iversen, Zoe Jackson, Jacqui Lynas, Helen Middleton-Price, Richard Savine, Jim Sikorski, Melanie Watson, John Weinman, Anthony S. Wierzbicki and Richard Wray

      Article first published online: 20 MAY 2004 | DOI: 10.1002/ajmg.a.30102

  5. Clinical Reports

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Malignant degeneration of presacral teratoma in the Currarino anomaly (pages 299–304)

      Miguel Urioste, M. del Carmen Garcia-Andrade, Laura Valle, Mercedes Robledo, Fernando González-Palacios, Ramiro Méndez, Joaquin Ferreirós, Javier Nuño and Javier Benítez

      Article first published online: 17 MAY 2004 | DOI: 10.1002/ajmg.a.30028

    2. Nonmosaic smallest duplication of 12q24.31-qter: The first reported case (pages 305–310)

      Julie Won Ireland, Syed M. Jalal, Pamela S. McGrann and Noralane M. Lindor

      Article first published online: 17 MAY 2004 | DOI: 10.1002/ajmg.a.30098

    3. Oto-onycho-peroneal syndrome: Further delineation and first fetal report (pages 316–319)

      Bettina Bessieres-Grattagliano, Genevieve Brodaty, Jelena Martinovic, Catherine Fallet-Bianco, Anne-Lise Delezoide and Fernand Daffos

      Article first published online: 18 MAY 2004 | DOI: 10.1002/ajmg.a.30119

  6. Research Letters

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3) (pages 325–330)

      Damien Sanlaville, François Vialard, François Thépot, Luce Vue-Droy, Azarnouche Ardalan, Patrice Nizard, Alain Corré, Bernard Devauchelle, Tanguy Martin-Denavit, Marc Nouchy, Valérie Malan, Jean-Louis Taillemite and Marie-France Portnoï

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30115

  7. Correspondence

    1. Top of page
    2. Rapid Publication
    3. Research Articles
    4. Research Reviews
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    1. A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis (page 331)

      E. Nilufer Broeders, Daniel Abramowicz, Marc J. Abramowicz and Jasmine Parma

      Article first published online: 25 MAY 2004 | DOI: 10.1002/ajmg.a.30058

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