Clinical Genetics

Cover image for Vol. 81 Issue 6

June 2012

Volume 81, Issue 6

Pages 503–604

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Next-generation sequencing: ready for the clinics? (pages 503–510)

      AN Desai and A Jere

      Version of Record online: 9 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01865.x

  2. COMMENTARY

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Whole-genome sequencing and the physician (pages 511–513)

      A Thorogood, BM Knoppers, WJ Dondorp and GMWR de Wert

      Version of Record online: 9 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01868.x

  3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. E-genetics: exploring the acceptability and feasibility of using technology in cancer genetics services (pages 514–520)

      J Hilgart, JA Hayward and R Iredale

      Version of Record online: 13 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01813.x

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

  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Genotype–phenotype correlation in colorectal polyposis (pages 521–531)

      KF Newton, EKL Mallinson, J Bowen, F Lalloo, T Clancy, J Hill and DGR Evans

      Version of Record online: 25 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01740.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Identification of de novo mutations and rare variants in hypoplastic left heart syndrome (pages 542–554)

      M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, L Pezzoli, A Vetro, D Barachetti, L Boni, D Federici, AM Soto, JV Comas, P Ferrazzi and O Zuffardi

      Version of Record online: 25 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01674.x

    2. PTEN in colorectal cancer: a report on two Cowden syndrome patients (pages 555–562)

      R Kersseboom, HJ Dubbink, WE Corver, AJP van Tilburg, JW Poley, ME van Leerdam, PN Atmodimedjo, IMBH van de Laar, JM Collée, WNM Dinjens, H Morreau and A Wagner

      Version of Record online: 9 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01639.x

    3. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria (pages 563–570)

      SHE Zaidi, M Faiyaz-Ul-Haque, T Shuaib, A Balobaid, Z Rahbeeni, H Abalkhail, A Al-Abdullatif, Z Al-Hassnan, I Peltekova and M Al-Owain

      Version of Record online: 18 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01690.x

    4. Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD) (pages 571–577)

      O Lidove, P Kaminsky, E Hachulla, V Leguy-Seguin, C Lavigne, I Marie, F Maillot, C Serratrice, A Masseau, P Chérin, J Cabane, E Noel and on behalf of the FIMeD investigators

      Version of Record online: 21 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01718.x

    5. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology (pages 578–583)

      CE Cottrell, J Mendell, M Hart-Kothari, D Ell, DL Thrush, C Astbury, M Pastore, JM Gastier-Foster and RE Pyatt

      Version of Record online: 4 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01681.x

    6. Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated (pages 584–589)

      E Chabchoub, D Willekens, JR Vermeesch and J-P Fryns

      Version of Record online: 23 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01684.x

    7. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype (pages 590–594)

      Z Stark, G Gillessen-Kaesbach, MM Ryan, IC Cirstea, L Gremer, MR Ahmadian, R Savarirayan and M Zenker

      Version of Record online: 18 AUG 2011 | DOI: 10.1111/j.1399-0004.2011.01754.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. COMMENTARY
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? (pages 595–597)

      DR Bertola, AC Pereira, AS Brasil, L Suzuki, C Leite, R Falzoni, U Tannuri, AB Poplawski, KM Janowski, CA Kim and LM Messiaen

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01764.x

    2. High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey (pages 598–601)

      S Kalb, AO Caglayan, A Degerliyurt, S Schmid, S Ceylaner, N Hatipoglu, K Hinderhofer, H Rehder, S Kurtoglu, G Ceylaner, J Zschocke and M Witsch-Baumgartner

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01750.x

    3. Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion (pages 602–604)

      NM Allen, B O’hIci, G Anderson, T Nestor, S Ann Lynch and MD King

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01777.x

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