Clinical Genetics

Cover image for Clinical Genetics

July 1992

Volume 42, Issue 1

Pages 1–55

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases (pages 1–7)

      M. Röyttä, A. S. Fagerlund, S. Toikkanen, T. T. Salmi, L. B. Jorde, H. R. Forsius and A. W. Eriksson

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03125.x

    2. Linkage analysis in properdin deficiency families: refined location in proximal Xp (pages 8–12)

      Claes Wadelius, Maritta Pigg, Mats Sundvall, Anders G. Sjöholm, Ponmani Goonewardena, Ed J. Kuijper, Cees C. Tijssen, Anton Jansz, Peter J. Späth, Ulf B. Schaad, Lisbeth Tranebjaerg, Hans E. Nielsen, Claos Söderström, Göran Annerén and Ulf Pettersson

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03126.x

    3. Consanguineous marriages among parents of Down patients (pages 13–15)

      Nurettin Başaran, A. Cenani, B. S. Şayli, C. Özkinay, S. Artan, H. Seven, A. Başaran and S. Dinçer

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03127.x

    4. Congenital hypertrophy of retinal pigment epithelium in patients with colonic polyps associated with cancer family syndrome (pages 16–18)

      R. S. Houlston, T. Fallon, C. Harocopos, C. B. Williams, C. Davey and J. Slack

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03128.x

    5. Congenital heart defects, hamartomas of the tongue and polysyndactyly in a sister and brother (pages 19–21)

      Karen Helene Örstavik, Ralf Lindemann, Lars Åge Solberg, Arnold Foerster and Svein Jan Sørland

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03129.x

    6. A fragile X family with high penetrance in females: risk heterogeneity? (pages 22–26)

      Francisco Martínez, Lourdes Badía and Félix Prieto

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03130.x

    7. Amyloidogenic and non-amyloidogenic transthyretin Asn 90 variants (pages 27–30)

      I. L. Alves, M. R. Almeida, J. Skare, M. Skinner, K. Kurose, Y. Sakaki, P. P. Costa and M. J. M. Saraiva

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03131.x

    8. Time of pubertal onset, testosterone levels and intelligence in 47,XXY males (pages 31–34)

      C. Netley

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03132.x

    9. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier (pages 35–38)

      Francesco Muntoni, Anna Mateddu, Maria Giovanna Marrosu, Miiena Cau, Rita Congiu, Maria Antonietta Melis, Antonio Cao and Carlo Cianchetti

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03133.x

    10. Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II — a family study (pages 39–42)

      Tatsuo Yoneyama, Hilton L. Fowler, John W. Pendleton, Peter P. Sforza, Roy D. Gerard, Charles Y. Lui, Thomas H. Eldridge and All Iranmanesh

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03134.x

    11. DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia (pages 43–46)

      M. J. Kotze, E. Langenhoven, J. A. Kriek, C. J. J. Oosthuizen and A. E. Retief

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03135.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Confirmation of true mosaic trisomy 20 in a phenotypically normal liveborn male (pages 47–49)

      Arthur R. Brothman, Kimberly Rehberg, Patrick D. Storto, Susan E. Phillips and Robert T. Mosby

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03136.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. Pitted enamel hypoplasia in tuberous sclerosis (pages 50–52)

      J. R. Sampson, D. Attwood, A. S. Al Mughery and J. S. Reid

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03137.x

  4. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. Letter to the Editor
    1. DNA deletion in patients with von Recklinghausen neurofibromatosis (pages 53–54)

      T. Kamei, Y. Fukushima, A. Shibata, Y. Hayashi, N. Tachibana, I. Takeda, N. Niikawa, F. S. Collins, K. Takahashi and S. Masumura

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03138.x

    2. Autism and ring chromosome 18 mosaicism (page 55)

      Jean-Pierre Fryns and Alice Kleczkowska

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1992.tb03139.x

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