American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 August 2002

Volume 111, Issue 3

Pages 233–344

Currently known as: American Journal of Medical Genetics Part A

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome (pages 233–237)

      Joachim Bürger, Denise Horn, Holger Tönnies, Heidemarie Neitzel and André Reis

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10498

    2. Infantile hypotonia as a presentation of rett syndrome (pages 238–242)

      Heidi A. Heilstedt, Mona D. Shahbazian and Brendan Lee

      Article first published online: 18 JUN 2002 | DOI: 10.1002/ajmg.10633

    3. Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations (pages 243–252)

      Regina Célia Mingroni-Netto, Claudia B. Angeli, Maria Teresa B.M. Auricchio, Emygdia R. Leal-Mesquita, Ândrea K.C. Ribeiro-dos-Santos, Iris Ferrari, Mara H. Hutz, Francisco M. Salzano, Kim Hill, A. Magdalena Hurtado and Angela M. Vianna-Morgante

      Article first published online: 26 JUN 2002 | DOI: 10.1002/ajmg.10572

    4. Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: Implications for complex disease genetics (pages 253–259)

      David A. van Heel, Dermot P.B. McGovern, Lon R. Cardon, Bryan M. Dechairo, Nicholas J. Lench, Alisoun H. Carey and Derek P. Jewell

      Article first published online: 11 JUN 2002 | DOI: 10.1002/ajmg.10588

    5. Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy (pages 271–284)

      Anne-Marie Lamhonwah, Simon E. Olpin, Rodney J. Pollitt, Christine Vianey-Saban, Priscille Divry, Nathalie Guffon, Guy T. N. Besley, Russell Onizuka, Linda J. De Meirleir, Ljerka Cvitanovic-Sojat, Ivo Baric, Carlo Dionisi-Vici, Ksenija Fumic, Miljenka Maradin and Ingrid Tein

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10585

    6. Duplication of 8p23.2: A benign cytogenetic variant? (pages 285–288)

      Naoki Harada, Jun Takano, Tatsuro Kondoh, Hirofumi Ohashi, Tomonobu Hasegawa, Hirobumi Sugawara, Tomoko Ida, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Tadashi Kajii, Norio Niikawa and Naomichi Matsumoto

      Article first published online: 13 JUN 2002 | DOI: 10.1002/ajmg.10584

  2. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. Interstitial microdeletion of chromosome 1p in two siblings (pages 289–294)

      C.G.N. Campbell, H. Wang and G.W. Hunter

      Article first published online: 29 MAY 2002 | DOI: 10.1002/ajmg.10595

    2. Mosaic trisomy 9 and lobar holoprosencephaly (pages 295–300)

      Marion Gérard-Blanluet, Claude Danan, Martine Sinico, Françoise Lelong, Elsa Borghi, Gilles Dassieu, Jean-Claude Janaud, Sylvie Odent and Férechté Encha-Razavi

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10481

    3. Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes (pages 307–312)

      Brad Angle, Frank Yen, Joseph H. Hersh, Gordon Gowans and Margaret Barch

      Article first published online: 31 MAY 2002 | DOI: 10.1002/ajmg.10599

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation (pages 319–323)

      Daniela Giardino, Palma Finelli, Silvia Russo, Giulietta Gottardi, Ornella Rodeschini, Maria Gabriella Atza, Federica Natacci and Lidia Larizza

      Article first published online: 26 JUN 2002 | DOI: 10.1002/ajmg.10537

  4. Research Letter

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders (pages 324–327)

      Alessandra Splendore, Maria Rita Passos-Bueno, Ethylin Wang Jabs, Lionel Van Maldergem and Eric A. Wulfsberg

      Article first published online: 11 JUN 2002 | DOI: 10.1002/ajmg.10567

  5. Invited Paper

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. Genes and translocations involved in POF (pages 328–333)

      David Schlessinger, Luisa Herrera, Laura Crisponi, Steven Mumm, Antonio Percesepe, Massimo Pellegrini, Giuseppe Pilia and Antonino Forabosco

      Article first published online: 7 JUN 2002 | DOI: 10.1002/ajmg.10565

  6. Invited Comment

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
    1. O patient, where art thou? (page 334)

      Angela E. Lin

      Article first published online: 31 MAY 2002 | DOI: 10.1002/ajmg.10553

  7. Clinical/Pathologic Conference

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence
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      Fifteen-year-old boy with stress-induced arrhythmia and sudden death (pages 335–343)

      James C. Huhta, Wilfredo Chamizo, Jorge McCormack, Enid Gilbert Barness and Herbert H. Pomerance

      Article first published online: 31 MAY 2002 | DOI: 10.1002/ajmg.10597

  8. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Report
    4. Clinical Reports
    5. Research Letter
    6. Invited Paper
    7. Invited Comment
    8. Clinical/Pathologic Conference
    9. Correspondence

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