Clinical Genetics

Cover image for Clinical Genetics

February 2004

Volume 65, Issue 2

Pages 77–161

  1. Mini Review

    1. Top of page
    2. Mini Review
    3. Hotspots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
  2. Hotspots

    1. Top of page
    2. Mini Review
    3. Hotspots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
  3. Original Articles

    1. Top of page
    2. Mini Review
    3. Hotspots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Skeletal phenotype in patients with Shwachman–Diamond syndrome and mutations in SBDS (pages 101–112)

      O Mäkitie, L Ellis, PR Durie, JA Morrison, EB Sochett, JM Rommens and WG Cole

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00198.x

    2. A model for disclosing the first trimester part of an integrated Down's syndrome screening test (pages 113–119)

      R Maymon, M Betser, E Dreazen, A Padoa and A Herman

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00209.x

  4. Short Reports

    1. Top of page
    2. Mini Review
    3. Hotspots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Novel mutations in the CHST6 gene causing macular corneal dystrophy (pages 120–125)

      C Abbruzzese, U Kuhn, F Molina, P Rama and M De Luca

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00191.x

    2. Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast–ovarian cancer families (pages 131–136)

      M Barrois, I Bièche, S Mazoyer, M-H Champème, B Bressac-de Paillerets and R Lidereau

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00200.x

    3. Sanfilippo B syndrome: molecular defects in Greek patients (pages 143–149)

      C Beesley, M Moraitou, B Winchester, K Schulpis, E Dimitriou and H Michelakakis

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00210.x

  5. Letters to the Editor

    1. Top of page
    2. Mini Review
    3. Hotspots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Germline-sequence variants S836S and L769L in the RE arranged during Transfection (RET) proto-oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population (pages 150–152)

      I. Berard, J.-L. Kraimps, F. Savagner, A. Murat, K. Renaudin, P. Nicolli-Sire, G. Bertrand, J.-P. Moisan and S. Bezieau

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00172.x

    2. Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene (pages 156–157)

      L. Titomanlio, D. De Brasi, A. Buoninconti, M.P. Sperandeo, A. Pepe, G. Andria and G. Sebastio

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00204.x

    3. Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method (pages 158–161)

      M. Abifadel, S. Jambart, D. Allard, J.-P. Rabès, M. Varret, A. Derré, E. Chouery, N. Salem, C. Junien, H. Aydénian and C. Boileau

      Article first published online: 29 JAN 2004 | DOI: 10.1111/j.0009-9163.2004.00205.x

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