Clinical Genetics

Cover image for Clinical Genetics

February 2000

Volume 57, Issue 2

Pages 95–159

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. Down syndrome: genetic recombination and the origin of the extra chromosome 21 (pages 95–100)

      Terry Hassold and Stephanie Sherman

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570201.x

  2. Images in Genetics

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. Hallowed beginning (pages 101–102)

      Edmond G Lemire and Albert E Chudley

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570202.x

  3. Original Articles

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype (pages 103–109)

      Chitra Prasad, Asuri N Prasad, Bernard N Chodirker, Christine Lee, Angelika K Dawson, Leslie J Jocelyn and Albert E Chudley

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570203.x

    2. Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes (pages 110–115)

      Bent Raungaard, Henrik Kjærulf Jensen, Jens Uffe Brorholt-Petersen, Finn Heath and Ole Færgeman

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570204.x

    3. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands (pages 116–124)

      M Paola Lombardi, Egbert Jw Redeker, Joep C Defesche, Sylvia Wa Kamerling, Mieke D Trip, Marcel Mam Mannens, Louis M Havekes and John Jp Kastelein

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570205.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2 (pages 125–130)

      Lars Allan Larsen, Ida Hastrup Svendsen, Annette Møller Jensen, Jørgen K Kanters, Paal Skytt Andersen, Mogens Møller, Sven Asger Sørensen, Erik Sandøe, Joes Ramsøe Jacobsen, Jens Vuust and Michael Christiansen

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570206.x

    2. Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPLOlbia) (pages 140–147)

      S Bertolini , Ml Simone, Gm Pes, M Ghisellini, M Rolleri, A Bellocchio, N Elicio, P Masturzo and S Calandra

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570209.x

    3. Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus (pages 148–150)

      R Becker, R-D Wegner, J Kunze, S Runkel, M Vogel and M Entezami

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570210.x

  5. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. The X-linked IAP gene does not contribute to the clinical phenotype of spinal muscular atrophy (pages 154–156)

      Y Martín, A Valero, JM López-Terradas, C Marsal and C Hernández-Chico

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570212.x

  6. Correspondence

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
  7. Announcements

    1. Top of page
    2. Mini Review
    3. Images in Genetics
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    7. Correspondence
    8. Announcements
    1. Fifth Annual Human Genome Meeting, April 9–12, 2000 (page 159)

      Version of Record online: 24 DEC 2001 | DOI: 10.1034/j.1399-0004.2000.570215.x

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