Clinical Genetics

Cover image for Clinical Genetics

June 1994

Volume 45, Issue 6

Pages 277–332

  1. Original Article

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
    1. Discordance between direct and PHA-stimulated chromosome preparations from neonates (pages 277–280)

      I. W. Garnham, H. Fernandez, D. F. Callen, E. A. Haan and G. R. Sutherland

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04029.x

    2. Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis (pages 281–284)

      James Skare, Lee Anna Junes, Noelle Myles, Kelly Kane, Aubrey Milunsky, Alan Cohen and Martha Skinner

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04030.x

    3. Plasminogen with type-I mutation in the Chinese Han population (pages 285–287)

      Liming Li, Shuichi Kikuchi, Tadao Arinami, Kimiko Kohayashi, Shigeru Tsuchiya and Hideo Hamaguchi

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04031.x

    4. Inbreeding and congenital heart diseases in a North Indian population (pages 288–291)

      Badaruddoza, Mohd. Afzal and Akhtaruzzaman

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04032.x

    5. The apolipoprotein C-II variant apoC-IILys19[RIGHTWARDS ARROW]Thr is not associated with dyslipidemia in an affected kindred (pages 292–297)

      Bernice R. Zysow, Clive R. Pullinger, Lori K. Hennessy, Robert V. Farese Jr., Marjan Ghassemzadeh and John P. Kane

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04033.x

    6. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population (pages 298–300)

      L. Lacerda, O. Amaral, R. Pinto, P. Oliveira, J. Aerts and M. C. Sá Miranda

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04034.x

    7. De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting (pages 301–304)

      Elke Back, Roland Toder, Ion Voiculescu, Anke Wildberg and Werner Schempp

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04035.x

    8. A new case of “complete” trisomy 5p with isochromosome 5p associated with a de novo translocation t(5;8)(q11;p23) (pages 305–307)

      M. Fujita, E. Flori, F. Lemaire, R. Casanova and D. Astruc

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04036.x

  2. Genetics and Society

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
  3. DNA Report

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
    1. A PCR-based test for a polymorphism within the human NF1 gene (page 313)

      Corinne Abernathy, Steven D. Colman and Margaret R. Wallace

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04038.x

  4. Case Report

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
    1. X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly (pages 314–317)

      W. Lane M. Robson, R. Brian Lowry and Alexander K. C. Leung

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04039.x

    2. Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects (pages 318–322)

      Armand Biver, Sabine De Rijcke, Veronique Toppet, Marguerite Ledoux-Gorbusier and Lionel Van Maldergem

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04040.x

    3. Melkersson-Rosenthal syndrome and de novo autosomal t(9;21)(p11;p11) translocation (pages 323–324)

      E. Smeets, J. P. Fryns and H. Van den Berghe

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04041.x

    4. Central nervous system abnormalities in chromosome deletion at 11q23 (pages 325–329)

      Jiro Ono, Koushi Harada, Tomoko Hasegawa, Kosuke Sakurai, Ryuhei Kodaka, Yuji Tanabe, Junko Tanaka, Takayasu Igarashi, Toshisaburo Nagai and Shintaro Okada

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04042.x

  5. Letter to the Editor

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
    1. The Kabuki make-up (Niikawa-Kuroki) syndrome and isolated transient hyperphosphatasemia (pages 330–331)

      Koen Devriendt and Jean-Pierre Fryns

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04043.x

  6. Announcement

    1. Top of page
    2. Original Article
    3. Genetics and Society
    4. DNA Report
    5. Case Report
    6. Letter to the Editor
    7. Announcement
    1. Announcements (page 332)

      Version of Record online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.1994.tb04044.x

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