Clinical Genetics

Cover image for Vol. 73 Issue 2

February 2008

Volume 73, Issue 2

Pages 103–196

  1. Reviews

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. Dyskeratosis congenita: a genetic disorder of many faces (pages 103–112)

      M Kirwan and I Dokal

      Version of Record online: 15 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00923.x

    2. Synpolydactyly: clinical and molecular advances (pages 113–120)

      S Malik and K-H Grzeschik

      Version of Record online: 19 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00935.x

  2. Social and Behavioural Research in Clinical Genetics

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. Predictors of psychological distress among individuals with a strong family history of malignant melanoma (pages 121–131)

      NA Kasparian, B Meiser, PN Butow, JM Simpson and GJ Mann

      Version of Record online: 28 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00949.x

  3. Short Reports

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker–Warburg syndrome (pages 139–145)

      RP Cotarelo, MC Valero, B Prados, A Peña, L Rodríguez, O Fano, JJ Marco, ML Martínez-Frías and J Cruces

      Version of Record online: 19 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00936.x

    2. Mutations in the familial Mediterranean fever gene of patients with IgA nephropathy and other forms of glomerulonephritis (pages 146–151)

      OL Kukuy, J Kopolovic, A Blau, A Ben-David, D Lotan, M Shaked, Y Shinar, D Dinour, P Langevitz and A Livneh

      Version of Record online: 19 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00945.x

    3. Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of ‘intermediate risk’ (pages 152–159)

      E Fragouli, E Eliopoulos, E Petraki, P Sidiropoulos, I Aksentijevich, E Galanakis, H Kritikos, A Repa, G Fragiadakis, DT Boumpas and GN Goulielmos

      Version of Record online: 30 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00948.x

    4. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication (pages 160–164)

      S Yu, K Cox, K Friend, S Smith, R Buchheim, S Bain, J Liebelt, E Thompson and D Bratkovic

      Version of Record online: 12 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00938.x

    5. Pediatric restrictive cardiomyopathy associated with a mutation in β-myosin heavy chain (pages 165–170)

      SM Ware, ME Quinn, ET Ballard, E Miller, K Uzark and RL Spicer

      Version of Record online: 12 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00939.x

    6. Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload (pages 171–178)

      S Pelucchi, R Mariani, A Salvioni, S Bonfadini, A Riva, F Bertola, P Trombini and A Piperno

      Version of Record online: 27 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00950.x

  4. Original Article

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. Novel rare mutations and promoter haplotypes in ABCA1 contribute to low-HDL-C levels (pages 179–184)

      TL Slatter, GT Jones, MJA Williams, AM Van Rij and SPA McCormick

      Version of Record online: 10 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00940.x

  5. Letters to the Editor

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. High frequency of T130I mutation of HNF4A gene in Mexican patients with early-onset type 2 diabetes (pages 185–187)

      M Menjívar, MA Granados-Silvestre, I Montúfar-Robles, M Herrera, MT Tusié-Luna, S Canizales-Quinteros, CA Aguilar-Salinas and MG Ortiz-López

      Version of Record online: 19 NOV 2007 | DOI: 10.1111/j.1399-0004.2007.00928.x

    2. Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (pages 188–190)

      G Turner, J Boyle, MW Partington, B Kerr, FL Raymond, J Gécz and Members of the NSW GOLD team

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00929.x

    3. Perinatal lethal Gaucher’s disease without prenatal complications (pages 191–195)

      A Zay, FYM Choy, P MacLeod and CR Tan-Dy

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00941.x

  6. Corrigendum

    1. Top of page
    2. Reviews
    3. Social and Behavioural Research in Clinical Genetics
    4. Short Reports
    5. Original Article
    6. Letters to the Editor
    7. Corrigendum
    1. You have free access to this content
      Corrigendum (page 196)

      Version of Record online: 10 JAN 2008 | DOI: 10.1111/j.1399-0004.2007.00956.x

      This article corrects:

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