Clinical Genetics

Cover image for Clinical Genetics

January 2012

Volume 81, Issue 1

Pages 1–101

  1. ANNOUNCEMENT

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. CCMG statement on direct-to-consumer genetic testing (pages 1–3)

      CCMG Ethics and Public Policy Committee, TN Nelson, L Armstrong, J Richer, J Evans, J Lauzon, B McGillivray, H Bruyere and S Dougan

      Version of Record online: 10 NOV 2011 | DOI: 10.1111/j.1399-0004.2011.01789.x

  2. PERSPECTIVES

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
  3. REVIEW

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Management of inherited thrombophilia: guide for genetics professionals (pages 7–17)

      EA Varga and JL Kujovich

      Version of Record online: 25 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01746.x

  4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer (pages 18–23)

      LB van der Meer, E van Duijn, R Wolterbeek and A Tibben

      Version of Record online: 3 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01778.x

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

  5. IMAGES IN GENETICS

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis (pages 24–28)

      R Huijgen, ADM Stork, JC Defesche, J Peter, R Alonso, A Cuevas, JJP Kastelein, M Duran and ESG Stroes

      Version of Record online: 16 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01793.x

      Section Editor: Albert E. Chudley, e-mail: Chudley@cc.umanitoba.ca

  6. ORIGINAL ARTICLES

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists (pages 38–46)

      C Mongin, F Coulet, JH Lefevre, C Colas, M Svrcek, M Eyries, Y Lahely, J-F Fléjou, F Soubrier and Y Parc

      Version of Record online: 4 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01676.x

  7. SHORT REPORTS

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients (pages 47–55)

      M Barbosa, A Lopes, C Mota, E Martins, J Oliveira, S Alves, P De Bonis, M do Céu Mota, C Dias, P Rodrigues-Santos, AM Fortuna, D Quelhas, L Lacerda, L Bisceglia and ML Cardoso

      Version of Record online: 14 FEB 2011 | DOI: 10.1111/j.1399-0004.2011.01638.x

    2. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression (pages 56–63)

      AM Lehman, C du Souich, D Chai, P Eydoux, JL Huang, AK Fok, L Avila, J Swingland, AD Delaney, B McGillivray, D Goldowitz, B Argiropoulos, MS Kobor and CF Boerkoel

      Version of Record online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01615.x

    3. Adoption and the communication of genetic risk: experiences in Huntington disease (pages 64–69)

      Y Bombard, A Semaka and MR Hayden

      Version of Record online: 9 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01614.x

    4. Clinical findings in patients with GLI2 mutations – phenotypic variability (pages 70–75)

      CDP Bertolacini, LA Ribeiro-Bicudo, A Petrin, A Richieri-Costa and JC Murray

      Version of Record online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01606.x

    5. You have full text access to this OnlineOpen article
      Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2 (pages 76–81)

      T Vulliamy, R Beswick, MJ Kirwan, U Hossain, AJ Walne and I Dokal

      Version of Record online: 4 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01605.x

    6. Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma (pages 82–87)

      B Zirn, L Arning, I Bartels, M Shoukier, S Hoffjan, B Neubauer and A Hahn

      Version of Record online: 22 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01598.x

    7. First HPSE2 missense mutation in urofacial syndrome (pages 88–92)

      S Mahmood, C Beetz, MM Tahir, M Imran, R Mumtaz, I Bassmann, A Jahic, M Malik, G Nürnberg, SAA Hassan, S Rana, P Nürnberg and CA Hübner

      Version of Record online: 10 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01649.x

  8. LETTERS TO THE EDITOR

    1. Top of page
    2. ANNOUNCEMENT
    3. PERSPECTIVES
    4. REVIEW
    5. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    6. IMAGES IN GENETICS
    7. ORIGINAL ARTICLES
    8. SHORT REPORTS
    9. LETTERS TO THE EDITOR
    1. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia (pages 93–95)

      EH Dutra, I-P Chen, TL McGregor, JD Ranells and EJ Reichenberger

      Version of Record online: 12 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01700.x

    2. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency (pages 96–98)

      SY Cho, H-D Park, Y-W Lee, C-S Ki, S-Y Lee, YB Sohn, SW Park, SH Kim, S Ji, SJ Kim, EW Choi, CH Kim, A-r Ko, K-H Paik, DH Lee and D-K Jin

      Version of Record online: 12 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01704.x

    3. Validation of comparative genomic hybridization arrays for the detection of genomic rearrangements of the calpain-3 and dysferlin genes (pages 99–101)

      M Bartoli, P Nègre, N Wein, P Bourgeois, C Pécheux, N Lévy and Martin Krahn

      Version of Record online: 12 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01708.x

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