American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 February 1994

Volume 49, Issue 4

Pages fmi–fmi, i–i, 369–455

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Meeting Announcement
    4. Articles
    5. Letter to the Editors
    6. Reply
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490401

  2. Meeting Announcement

    1. Top of page
    2. Masthead
    3. Meeting Announcement
    4. Articles
    5. Letter to the Editors
    6. Reply
    1. You have free access to this content
      Meeting announcement (page i)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490402

  3. Articles

    1. Top of page
    2. Masthead
    3. Meeting Announcement
    4. Articles
    5. Letter to the Editors
    6. Reply
    1. Excess functional copy of allele at chromosomal region 11p15 may cause Widemann-Beckwith (EMG) syndrome (pages 378–383)

      Takeo Kubota, Shinji Saitoh, Tadashi Matsumoto, Kouji Narahara, Yoshimitsu Fukushima, Yoshihiro Jinno and Norio Niikawa

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490405

    2. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8 (pages 384–387)

      John J. Mitchell, Michel Vekemans, Sandra Luscombe, Michael Hayden, Bernard Weber, Andrea Richter, Robert Sparkes, Tracy Kojis, Gordon Watters and Vazken M. Der Kaloustian

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490406

    3. Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient (pages 388–392)

      Solange B. Farah, Clarisa F. Ramos, Maricilda P. de Mello, Edi L. Sartorato, Nina Horelli-Kuitunen, Vera L. G. S. Lopes, Denise P. Cavalcanti and Christine Hackel

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490407

    4. Adams oliver syndrome: A family with extreme variability in clinical expression (pages 393–396)

      J. S. Bamforth, P. Kaurah, J. Byrne and P. Ferreira

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490408

    5. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37) (pages 399–401)

      Tung-Ho Wang, Kathreen Johnston, Chih-Lin Hsieh and Phyllis A. Dennery

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490410

    6. Abnormality of type IX collagen in a patient with diastrophic dysplasia (pages 402–409)

      Mohammad Diab, Jiann-Jiu Wu, Frederic Shapiro and David Eyre

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490411

    7. Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes (pages 410–413)

      A. M. Estop, V. Bansal, A. Lin, F. Levinson, S. M. Karlin, U. Surti, S. L. Wenger and M. W. Steele

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490412

    8. Branchio-oculo-facial syndrome: Broadening the spectrum (pages 414–421)

      Michelle McCool and David D. Weaver

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490413

    9. Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15) (pages 422–427)

      Jeffrey R. Sawyer, Emmett Jones, Flora F. Hawks, J. Gerald Quirk Jr. and Christopher Cunniff

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490414

    10. Case of 46,XX/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia (pages 428–430)

      Tomoko Sawai, Masaaki Yoshimoto, Ei-Ichi Kinoshita, Tsuneyoshi Baba, Tadashi Matsumoto, Yoshiro Tsuji, Shinpei Fukuda, Naoki Harada and Norio Niikawa

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490415

    11. Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25–26 (pages 431–434)

      R. Parvari, Y. Weinstein, S. Ehrlich, M. Steinitz and R. Carmi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490416

    12. X-linked laterality sequence in a family with carrier manifestations (pages 435–438)

      S. P. Mikkilä, M. Janas, R. Karikoski, T. Tarkkila and K. O. J. Simola

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490417

    13. Achondrogenesis type IB (Fraccaro): Study of collagen in the tissue and in chondrocytes cultured in agarose (pages 439–446)

      P. Freisinger, V. Stanescu, B. Jacob, L. Cohen-Solal, P. Maroteaux and J. Bonaventure

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490418

  4. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Meeting Announcement
    4. Articles
    5. Letter to the Editors
    6. Reply
    1. Deletions of 2q: Is there a 2q– syndrome? (pages 448–449)

      José Marí Sánchez and Ernesto Luis Goldschmidt

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320490420

    2. Immotile cilia syndrome: A recombinant family at HLA-linked gene locus (pages 450–451)

      Paolo Gasparini, Anna Grifa, Nicola Oggiano, Enrica Fabbrizzi and Pier Luigi Giorgi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490421

    3. GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans (pages 452–453)

      Takeo Kubota, Norio Niikawa, Yoshihiro Jinno and Tadayuki Ishimaru

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490422

  5. Reply

    1. Top of page
    2. Masthead
    3. Meeting Announcement
    4. Articles
    5. Letter to the Editors
    6. Reply
    1. Re: Rejoinder to Bzdúch and Mašura (page 455)

      Anil Kumar, Charles A. Williams and Heather L. Stalker

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320490424

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