Clinical Genetics

Cover image for Vol. 79 Issue 4

April 2011

Volume 79, Issue 4

Pages 301–401

  1. REVIEW

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

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation (pages 321–328)

      DW Hadley, S Ashida, JF Jenkins, KA Calzone, IR Kirsch and LM Koehly

      Article first published online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01622.x

  3. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL 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. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis (pages 335–344)

      J McDonald, K Damjanovich, A Millson, W Wooderchak, JM Chibuk, DA Stevenson, F Gedge and P Bayrak-Toydemir

      Article first published online: 16 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01596.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. Constitutional FLCN mutations in patients with suspected Birt–Hogg–Dubé syndrome ascertained for non-cutaneous manifestations (pages 345–354)

      A Maffé, B Toschi, G Circo, D Giachino, S Giglio, A Rizzo, A Carloni, V Poletti, S Tomassetti, C Ginardi, S Ungari and M Genuardi

      Article first published online: 7 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01480.x

    2. Autism severity is associated with child and maternal MAOA genotypes (pages 355–362)

      IL Cohen, X Liu, MES Lewis, A Chudley, C Forster-Gibson, M Gonzalez, EC Jenkins, WT Brown and JJA Holden

      Article first published online: 22 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01471.x

    3. Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance (pages 363–370)

      M Al-Owain, N Kaya, H Al-Zaidan, N Al-Hashmi, A Al-Bakheet, M Al-Muhaizea, A Chedrawi, RK Basran and A Milunsky

      Article first published online: 7 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01462.x

    4. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly (pages 371–377)

      J Albuisson, B Isidor, M Giraud, O Pichon, T Marsaud, A David, C Le Caignec and S Bezieau

      Article first published online: 13 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01465.x

    5. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II (pages 378–384)

      K-E Lee, H-Y Kang, S-K Lee, S-H Yoo, J-C Lee, Y-H Hwang, KH Nam, J-S Kim, J-C Park and J-W Kim

      Article first published online: 8 JUN 2010 | DOI: 10.1111/j.1399-0004.2010.01483.x

    6. Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches (pages 385–390)

      A Drousiotou, I DiMeo, R Mineri, Th Georgiou, G Stylianidou and V Tiranti

      Article first published online: 5 MAY 2010 | DOI: 10.1111/j.1399-0004.2010.01457.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    8. Erratum
    1. SETBP1 mutations in two Thai patients with Schinzel–Giedion syndrome (pages 391–393)

      K Suphapeetiporn, C Srichomthong and V Shotelersuk

      Article first published online: 4 MAR 2011 | DOI: 10.1111/j.1399-0004.2010.01552.x

    2. Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? (pages 394–395)

      A Nucaro, T Pisano, I Chillotti, C Montaldo and D Pruna

      Article first published online: 4 MAR 2011 | DOI: 10.1111/j.1399-0004.2010.01548.x

    3. Response to Nucaro et al. (page 396)

      S S-F Gau and C-H Chen

      Article first published online: 4 MAR 2011 | DOI: 10.1111/j.1399-0004.2010.01549.x

    4. PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability (pages 397–398)

      R Palmirotta, F Guadagni, A Savonarola, G Ludovici, ML De Marchis, D Palli, M Falchetti and L Ottini

      Article first published online: 4 MAR 2011 | DOI: 10.1111/j.1399-0004.2010.01536.x

  7. Erratum

    1. Top of page
    2. REVIEW
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL 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 401)

      Article first published online: 4 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01652.x

      This article corrects:

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