Clinical Genetics

Cover image for Clinical Genetics

January 2002

Volume 61, Issue 1

Pages 1–78

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Genetic Services (pages 1–6)

      D Donnai

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610101.x

  2. HotSpots

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. HotSpots (pages 7–12)

      ME Suzanne Lewis

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610102.x

  3. Original Article

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Standardization of PCR amplification for fragile X trinucleotide repeat measurements (pages 13–20)

      CD O'Connell, DH Atha, JP Jakupciak, JA Amos and Kl Richie

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610103.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. A prospective evaluation of the angiotensin-converting enzyme D/I polymorphism and left ventricular remodeling in the ‘Healing and Early Afterload Reducing Therapy’ Study (pages 21–25)

      RYL Zee, SD Solomon, UA Ajani, MA Pfeffer, K Lindpaintner and For The Heart investigators

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610104.x

    2. Telomere-specific fluorescence in situ hybridization analysis of couples with five or more recurrent miscarriages (pages 26–31)

      S Yakut, S Berker-Karaüzüm, M Şimşek, G Zorlu, B Trak and G Lüleci

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610105.x

    3. The E326K mutation and Gaucher disease: mutation or polymorphism? (pages 32–34)

      JK Park, N Tayebi, BK Stubblefield, ME LaMarca, JJ MacKenzie, DL Stone and E Sidransky

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610106.x

    4. Fertility and pregnancy outcome in Danish women with Turner syndrome (pages 35–39)

      NH Birkebaek, D Crüger, J Hansen, J Nielsen and G Bruun-Petersen

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610107.x

    5. A previously undescribed nonsense mutation of the HFE gene (pages 40–42)

      E Beutler, MJ Griffin, T Gelbart and C West

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610108.x

    6. Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain) (pages 43–48)

      P Guix, A Picornell, M Parera, A Galmes, A Obrador, MM Ramon and JA Castro

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610109.x

    7. Partial Xp duplication in a girl with dysmorphic features: the change in replication pattern of late-replicating dupX chromosome (pages 54–61)

      N Kokalj Vokac, P Seme Ciglenecki, A Erjavec, B Zagradisnik and A Zagorac

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610111.x

    8. Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies) (pages 62–65)

      M Guc-Scekic, J Milasin, M Stevanovic, LJ Stojanov and M Djordjevic

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610112.x

  5. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Familial Mediterranean fever: the potential for misdiagnosis of E148V using the E148Q usual RFLP detection method (pages 71–73)

      M Medlej-Hashim, N Salem, E Chouery, M Rawashdeh, V Delague, M Haffar, I Mansour, R Naman, G Lefranc, J Loiselet and A Mégarbané

      Version of Record online: 22 SEP 2008 | DOI: 10.1034/j.1399-0004.2002.10114.x

    2. Autosomal dominant isolated velopharyngeal insufficiency (pages 74–76)

      G Vantrappen, N Rommel, W Wellens, CWRJ Cremers, J-P Fryns and K Devriendt

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610115.x

    3. A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27 (pages 77–78)

      H Toba, R Fukuyama, M Sasaki, K Shiga, S Ishibashi and S Fushiki

      Version of Record online: 19 MAR 2002 | DOI: 10.1034/j.1399-0004.2002.610116.x

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