Clinical Genetics

Cover image for Clinical Genetics

March 1991

Volume 39, Issue 3

Pages 161–240

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editors
    6. Announcement
    1. Restriction fragment length polymorphism analysis of the C1-inhibitor gene in hereditary C1-inhibitor deficiency (pages 161–171)

      A. R. McPhaden, G. D. Birnie and K. Whaley

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03006.x

    2. Atypical facio-scapulo-humeral muscular dystrophy — a counselling dilemma (pages 172–177)

      W. Reardon, I. K. Temple, G. Harwood and M. Baraitser

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03007.x

    3. Dominantly inherited microcephaly, hypotelorism and normal intelligence (pages 178–180)

      D. G. R. Evans

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03008.x

    4. Beals syndrome: clinical and molecular investigations in a kindred of Indian descent (pages 181–188)

      D. Viljoen, R. Ramesar and D. Behari

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03009.x

    5. Screening for fra(x) mutation and Klinefelter syndrome in mental institutions (pages 189–193)

      Vanna Pecile and Giorgio Filippi

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03010.x

    6. Germ-line mosaicism in Waardenburg syndrome (pages 194–198)

      Saroj Kapur and Susan Karam

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03011.x

    7. Hemophilia A: genetic prediction and linkage studies in all available families in Finland (pages 199–209)

      Anna-Elina Lehesjoki, Pertti Sistonen, Vesa Rasi and Albert de la Chapelle

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03012.x

    8. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa (pages 210–213)

      M. Torrington and P. Beighton

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03013.x

    9. Hereditary hemorrhagic telangiectasia: report of 15 affected cases in a Mexican family (pages 214–218)

      Bolívar Guillén, Jesús Guízar, José de la Cruz and Fabio Salamanca

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03014.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editors
    6. Announcement
    1. The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy (pages 219–222)

      Milan Macek Jr., Milan Macek, Manfred Stuhrmann, Eduard Kulovany, Marie Dolanská, František Koukolík, Ingolf Boehm, Jana Hronková, Zdeňka Ježková, Magdalena Paulová, Hana Martanová, Jiří Zach, André Reis, Karl Sperling and Jörg Schmidtke

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03015.x

    2. Monosomy of 1p13.3–22.3 in twins (pages 223–227)

      Heather Dockery and J. Van der Westhuyzen

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03016.x

    3. Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome (pages 228–232)

      D. G. R. Evans, R. N. Lonsdale and M. A. Patton

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03017.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editors
    6. Announcement
    1. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of α-galactosidase A (pages 233–237)

      Yoshiro Nagao, Haruko Nakashima, Yukiko Fukuhara, Michie Shimmoto, Akihiro Oshima, Yuji Ikari, Yoshio Mori, Hitoshi Sakuraba and Yoshiyuki Suzuki

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03018.x

  4. Letter to the Editors

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editors
    6. Announcement
    1. Characterization of the frequency of delta F508 mutation and CF haplotypes in Swedish families (pages 238–239)

      Maria Anvret, Lisa Stolpe, Niklas Dahl, Maria Eiserman, Magnus Nordenskjöld, Maria Starborg and Lena Johansson

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03019.x

  5. Announcement

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editors
    6. Announcement
    1. Announcement (page 240)

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1991.tb03020.x

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