Clinical Genetics

Cover image for Clinical Genetics

January 1994

Volume 45, Issue 1

Pages 1–56

  1. Original Article

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. DNA Report: Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. A new simple and rapid dual assay for AFP and free β hCG in screening for Down syndrome (pages 1–4)

      Bent Nørgaard-Pedersen, Henrik Alfthan, Jørgen Arends, Claus K. Høgdall, Severin Olesen Larsen, Kim Pettersson, Ulf-Håkan Stenman and Riitta Salonen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03980.x

    2. A constitutional mutation within the retinoblastoma gene detected by PFGE (pages 5–10)

      Marie Janson and Magnus Nordenskjöld

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03981.x

    3. Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10; 17) may indicate candidate gene regions (pages 11–16)

      Anne Marie Gerdes, Michael B. Petersen, Henrik D. Schrøder, Karl Wulff and Karen Brøndum-Nielsen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03982.x

    4. Prenatal detection of cri du chat syndrome on uncultured amniocytes using fluorescence in situ hybridization (FISH) (pages 17–20)

      Mark J. Pettenati, Rosa Hayworth, Kelly Cox and P. Nagesh Rao

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03983.x

    5. Thyroid cancer in a case with the Alagille syndrome (pages 21–24)

      Zenichiro Kato, Junichi Asans, Tomomi Kato, Seiji Yamaguchi, Naomi Kondo and Tadao Orii

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03984.x

    6. Defective G2 repair in Down syndrome: effect of caffeine, adenosine and niacinamide in control and X-ray irradiated lymphocytes (pages 25–31)

      J. Pincheira, M. Rodriguez, M. Bravo, M. H. Navarrete and J. F. Lopez-Saez

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03985.x

    7. Occipital horn syndrome: report of a patient and review of the literature (pages 32–35)

      Masato Tsukahara, Kiyoshi Imaizumi, Shinya Kawai and Tadashi Kajii

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03986.x

  2. Case Report

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. DNA Report: Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Direct transmission of a tandem duplication in the short arm of chromosome 8 (pages 36–39)

      C. Dhooge, N. Van Roy, M. Craen and F. Speleman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03987.x

    2. Male with type II autosomal recessive cutis laxa (pages 40–43)

      Kiyoshi Imaizumi, Kenji Kurosawa, Yoshio Makita, Mitsuo Masuno and Yoshikazu Kuroki

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03988.x

    3. Myoclonic epilepsy and a maternally derived deletion of 15pter[RIGHTWARDS ARROW]13 (pages 44–47)

      Masashi Mizuguchi, Keiko Tsukamoto, Yoshiyuki Suzuki and Yasuo Nakagome

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03989.x

  3. Short Communication

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. DNA Report: Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Exclusion of an elastin gene (ELN) mutation as the cause of pseudoxanthoma elasticum (PXE) in one family (pages 48–51)

      M. C. Raybould, A. J. Birley, C. Moss, M. Hultén and C. M. E. McKeown

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03990.x

  4. DNA Report: Short Report on DNA Marker at Candidate Locus

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. DNA Report: Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDLR) gene (pages 52–53)

      L. G. Jensen, H. K. Jensen, M. Kjeldsen, L. U. Gerdes, P. S. Hansen, O. Faergeman, S. Kolvraa, L. Bolund and N. Gregersen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03991.x

    2. A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene (pages 54–55)

      H. K. Jensen, L. G. Jensen, P. S. Hansen, M. Kjeldsen, L. U. Gerdes, L. Bolund, O. Faergeman and N. Gregersen

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03992.x

  5. Announcement

    1. Top of page
    2. Original Article
    3. Case Report
    4. Short Communication
    5. DNA Report: Short Report on DNA Marker at Candidate Locus
    6. Announcement
    1. Announcements (page 56)

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb03993.x

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