Clinical Genetics

Cover image for Vol. 79 Issue 1

January 2011

Volume 79, Issue 1

Pages 1–102

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Mendelian susceptibility to mycobacterial disease (pages 17–22)

      LE Cottle

      Version of Record online: 21 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01510.x

  2. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
  3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
  4. HOTSPOTS

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. TMEM216 joins its ciliary cousins in ciliopathies (pages 45–47)

      AY Wang

      Version of Record online: 11 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01556_2.x

  5. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis (pages 49–59)

      DL Smit, AR Mensenkamp, S Badeloe, MH Breuning, MEH Simon, KY Van Spaendonck, CM Aalfs, JG Post, S Shanley, IPC Krapels, LH Hoefsloot, RJA Van Moorselaar, TM Starink, J-P Bayley, J Frank, MAM Van Steensel and FH Menko

      Version of Record online: 15 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01486.x

    2. Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs (pages 60–70)

      R Shaheen, OY Al-Dirbashi, ZN Al-Hassnan, M Al-Owain, N Makhsheed, F Basheeri, MZ Seidahmed, MAM Salih, E Faqih, H Zaidan, M Al-Sayed, Z Rahbeeni, T Al-Sheddi, M Hashem, W Kurdi, N Shimozawa and FS Alkuraya

      Version of Record online: 1 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01498.x

  6. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. X-chromosome duplications in males with mental retardation: pathogenic or benign variants? (pages 71–78)

      ACJ Gijsbers, NS Den Hollander, ATJM Helderman-van de Enden, JHM Schuurs-Hoeijmakers, L Vijfhuizen, EK Bijlsma, A Van Haeringen, KBM Hansson, E Bakker, MH Breuning and CAL Ruivenkamp

      Version of Record online: 31 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01438.x

    2. Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism (pages 79–85)

      I Filges, B Röthlisberger, A Blattner, N Boesch, P Demougin, F Wenzel, AR Huber, K Heinimann, P Weber and P Miny

      Version of Record online: 22 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01590.x

  7. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. DEVELOPEMENT BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. LETTERS TO THE EDITOR
    1. Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum (pages 92–95)

      M Castori, D Castiglia, F Brancati, M Foglio, S Heath, G Floriddia, S Madonna, J Fischer and G Zambruno

      Version of Record online: 9 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01513.x

    2. Novel mutations of wolframin: a report with a look at the protein structure (pages 96–99)

      A Alimadadi, A Ebrahim-Habibi, F Abbasi, MM Amoli, F-A Sayahpour and B Larijani

      Version of Record online: 9 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01511.x

    3. Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients? (pages 100–102)

      VE Emmel, I Alonso, LB Jardim, ML Saraiva-Pereira and J Sequeiros

      Version of Record online: 9 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01508.x

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