Clinical Genetics

Cover image for Vol. 80 Issue 1

July 2011

Volume 80, Issue 1

Pages 1–99

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
  2. IMAGES IN GENETICS

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Craniofacial and intraoral phenotype of Robinow syndrome forms (pages 15–24)

      S Beiraghi, V Leon-Salazar, BE Larson, MT John, ML Cunningham, A Petryk and JL Lohr

      Article first published online: 16 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01683.x

      Section Editor: Albert E. Chudley, email: achudley@hsb.mb.ca

  3. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
  4. ORIGINAL ARTICLE

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions (pages 31–38)

      MH Willemsen, G Beunders, M Callaghan, N de Leeuw, WM Nillesen, HG Yntema, JM van Hagen, AWM Nieuwint, N Morrison, STM Keijzers-Vloet, A Hoischen, HG Brunner, J Tolmie and T Kleefstra

      Article first published online: 10 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01607.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Molecular analysis of 30 Niemann–Pick type C patients from Spain (pages 39–49)

      J Macías-Vidal, L Rodríguez-Pascau, G Sánchez-Ollé, M Lluch, L Vilageliu, D Grinberg, MJ Coll and the Spanish NPC Working Group

      Article first published online: 6 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01504.x

    2. Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes (pages 50–58)

      M Al-Owain, S Wakil, F Shareef, A Al-Fatani, E Hamadah, M Haider, H Al-Hindi, A Awaji, O Khalifa, B Baz, R Ramadhan and B Meyer

      Article first published online: 22 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01518.x

    3. Identification of disease-associated DNA methylation in intestinal tissues from patients with inflammatory bowel disease (pages 59–67)

      Z Lin, JP Hegarty, JA Cappel, W Yu, X Chen, P Faber, Y Wang, AA Kelly, LS Poritz, BZ Peterson, S Schreiber, J-B Fan and WA Koltun

      Article first published online: 18 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01546.x

    4. Non-invasive prenatal determination of fetal sex: translating research into clinical practice (pages 68–75)

      M Hill, K Finning, P Martin, J Hogg, C Meaney, G Norbury, G Daniels and LS Chitty

      Article first published online: 15 SEP 2010 | DOI: 10.1111/j.1399-0004.2010.01533.x

    5. Contribution of VANGL2 mutations to isolated neural tube defects (pages 76–82)

      Z Kibar, S Salem, CM Bosoi, E Pauwels, P De Marco, E Merello, AG Bassuk, V Capra and P Gros

      Article first published online: 22 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01515.x

    6. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues (pages 83–88)

      M Begemann, S Spengler, D Kanber, A Haake, M Baudis, I Leisten, G Binder, S Markus, T Rupprecht, H Segerer, S Fricke-Otto, R Mühlenberg, R Siebert, K Buiting and T Eggermann

      Article first published online: 22 JUL 2010 | DOI: 10.1111/j.1399-0004.2010.01514.x

    7. Family history, BRCA mutations and breast cancer in Vietnamese women (pages 89–92)

      OM Ginsburg, NV Dinh, TV To, LH Quang, ND Linh, BTH Duong, R Royer, M Llacuachaqui, A Tulman, G Vichodez, S Li, RR Love and SA Narod

      Article first published online: 18 OCT 2010 | DOI: 10.1111/j.1399-0004.2010.01545.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Identification of five novel SPRED1 germline mutations in Legius syndrome (pages 93–96)

      S Laycock-van Spyk, HP Jim, L Thomas, G Spurlock, L Fares, S Palmer-Smith, U Kini, A Saggar, M Patton, V Mautner, DT Pilz and M Upadhyaya

      Article first published online: 8 JUN 2011 | DOI: 10.1111/j.1399-0004.2010.01618.x

    2. Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes (pages 97–98)

      L Zhang, MH Fleischut, K Kohut, S Spencer, K Wong, ZK Stadler, ND Kauff, K Offit and ME Robson

      Article first published online: 8 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01691.x

  7. Erratum

    1. Top of page
    2. REVIEW
    3. IMAGES IN GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. You have free access to this content
      Erratum (page 99)

      Article first published online: 8 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01705.x

      This article corrects:

      The Genetic Counseling Outcome Scale: a new patient-reported outcome measure for clinical genetics services

      Vol. 79, Issue 5, 413–424, Article first published online: 14 FEB 2011

SEARCH

SEARCH BY CITATION