Clinical Genetics

Cover image for Vol. 81 Issue 5

May 2012

Volume 81, Issue 5

Pages 403–501

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Towards an evidence-based process for the clinical interpretation of copy number variation (pages 403–412)

      ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, KE Wain, ES Williams, S Aradhya, HM Kearney, DH Ledbetter, ST South, EC Thorland and CL Martin

      Version of Record online: 13 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01818.x

    2. Aicardi–Goutieres syndrome: from patients to genes and beyond (pages 413–420)

      C Chahwan and R Chahwan

      Version of Record online: 8 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01825.x

  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter (pages 421–429)

      JS Voorwinden, JPC Jaspers, JG ter Beest, Y Kievit, RH Sijmons and JC Oosterwijk

      Version of Record online: 13 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01811.x

      Section Editor: Aad Tibben, e-mail: a.tibben@lumc.nl

  3. HOTSPOTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. A common tool for rare diseases (page 432)

      K Huang

      Version of Record online: 20 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01867.x

  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. The new Ghent criteria for Marfan syndrome: what do they change? (pages 433–442)

      L Faivre, G Collod-Beroud, L Adès, E Arbustini, A Child, BL Callewaert, B Loeys, C Binquet, E Gautier, K Mayer, M Arslan-Kirchner, M Grasso, C Beroud, D Hamroun, C Bonithon-Kopp, H Plauchu, PN Robinson, J De Backer, P Coucke, U Francke, O Bouchot, JE Wolf, C Stheneur, N Hanna, D Detaint, A De Paepe, C Boileau and G Jondeau

      Version of Record online: 2 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01703.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds (pages 453–461)

      M Wentink, M Nellist, M Hoogeveen-Westerveld, B Zonnenberg, D van der Kolk, T van Essen, S-M Park, G Woods, P Cohn-Hokke, W Brussel, E Smeets, A Brooks, D Halley, A van den Ouweland and A Maat-Kievit

      Version of Record online: 10 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01648.x

    2. Severe α-1 antitrypsin deficiency caused by Q0Ourém allele: clinical features, haplotype characterization and history (pages 462–469)

      L Vaz Rodrigues, F Costa, P Marques, C Mendonça, J Rocha and S Seixas

      Version of Record online: 25 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01670.x

    3. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood (pages 470–478)

      GS Sasa, A Ribes-Zamora, ND Nelson and AA Bertuch

      Version of Record online: 7 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01658.x

    4. Novel mutation in GLRB in a large family with hereditary hyperekplexia (pages 479–484)

      M Al-Owain, D Colak, A Al-Bakheet, N Al-Hashmi, T Shuaib, A Al-Hemidan, H Aldhalaan, Z Rahbeeni, M Al-Sayed, B Al-Younes, PT Ozand and N Kaya

      Version of Record online: 7 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01661.x

    5. Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey (pages 485–490)

      U Ramaswami, R Parini, G Pintos-Morell, G Kalkum, C Kampmann, M Beck and on behalf of the FOS Investigators

      Version of Record online: 25 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01671.x

    6. Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients (pages 491–494)

      N Muelas, P Hackman, H Luque, T Suominen, C Espinós, M Garcés-Sánchez, T Sevilla, I Azorín, JM Millán, B Udd and JJ Vílchez

      Version of Record online: 11 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01667.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population (pages 495–497)

      B García-Rodríguez, P Alfonso, M Mallén, M Pocoví and P Giraldo

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01757.x

    2. DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3 (pages 498–500)

      RA Ali, AU Rehman, SN Khan, T Husnain, S Riazuddin, TB Friedman, ZM Ahmed and S Riazuddin

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01729.x

  7. Corrigendum

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Corrigendum
    1. You have free access to this content
      Corrigendum (page 501)

      Version of Record online: 11 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01877.x

      This article corrects:

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