Clinical Genetics

Cover image for Vol. 85 Issue 3

March 2014

Volume 85, Issue 3

Pages 203–302

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
    1. Communication and technology in genetic counseling for familial cancer (pages 213–222)

      H.T. Lynch, C. Snyder, M. Stacey, B. Olson, S.K. Peterson, S. Buxbaum, T. Shaw and P.M. Lynch

      Article first published online: 20 DEC 2013 | DOI: 10.1111/cge.12317

  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
    1. What is a biobank? Differing definitions among biobank stakeholders (pages 223–227)

      D.M. Shaw, B.S. Elger and F. Colledge

      Article first published online: 16 OCT 2013 | DOI: 10.1111/cge.12268

      Section Editor:

      Aad Tibben, email: a.tibben@lumc.nl

  3. HOTSPOTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
  4. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
    1. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study (pages 233–244)

      N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

      Article first published online: 5 APR 2013 | DOI: 10.1111/cge.12138

    2. Familial clustering and genetic heterogeneity in Meniere's disease (pages 245–252)

      T. Requena, J.M. Espinosa-Sanchez, S. Cabrera, G. Trinidad, A. Soto-Varela, S. Santos-Perez, R. Teggi, P. Perez, A. Batuecas-Caletrio, J. Fraile, I. Aran, E. Martin, J. Benitez, N. Pérez-Fernández and J.A. Lopez-Escamez

      Article first published online: 9 APR 2013 | DOI: 10.1111/cge.12150

  5. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
    1. Identification of a founder EPCAM deletion in Spanish Lynch syndrome families (pages 260–266)

      P. Mur, M. Pineda, A. Romero, J. del Valle, E. Borràs, A. Canal, M. Navarro, J. Brunet, D. Rueda, T. Ramón y Cajal, C. Lázaro, T. Caldés, I. Blanco, J.L. Soto and G. Capellá

      Article first published online: 26 APR 2013 | DOI: 10.1111/cge.12152

    2. Further genotype–phenotype correlation emerging from two families with PLP1 exon 4 skipping (pages 267–272)

      Roberta Biancheri, Serena Grossi, Stefano Regis, Andrea Rossi, Fabio Corsolini, Daniela Paola Rossi, Pietro Cavalli, Mariasavina Severino and Mirella Filocamo

      Article first published online: 27 MAY 2013 | DOI: 10.1111/cge.12154

    3. Molecular and clinical characterization of Angelman syndrome in Chinese patients (pages 273–277)

      J.-L. Bai, Y.-J. Qu, Y.-W. Jin, H. Wang, Y.-L. Yang, Y.-W. Jiang, X.-Y. Yang, L.-P. Zou and F. Song

      Article first published online: 23 APR 2013 | DOI: 10.1111/cge.12155

    4. Genome-wide androgenetic mosaicism (pages 282–285)

      J.P. Johnson, J. Waterson, C. Schwanke and J. Schoof

      Article first published online: 23 APR 2013 | DOI: 10.1111/cge.12146

    5. A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier (pages 286–289)

      A. Todorova, I. Litvinenko, T. Todorov, R. Tincheva, D. Avdjieva, S. Tincheva and V. Mitev

      Article first published online: 10 APR 2013 | DOI: 10.1111/cge.12148

  6. LETTER TO THE EDITORS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
    1. Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops (pages 293–295)

      C. Beneteau, G. Thierry, S. Blesson, C. Le Vaillant, V. Picard, M.C. Béné, M. Eveillard and C. Le Caignec

      Article first published online: 14 APR 2013 | DOI: 10.1111/cge.12147

    2. Disfluency: it is not always stuttering (pages 298–299)

      M. Cosyns, Y. van Zaalen, G. Mortier, S. Janssens, A. Amez, J. Van Damme and J. Van Borsel

      Article first published online: 9 APR 2013 | DOI: 10.1111/cge.12144

    3. Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms (pages 300–301)

      M. Rusticeanu, V. Zimmer, L. Schleithoff, K. Wonney, J. Viera, A. Zimmer, U. Hübschen, R.M. Bohle, F. Grünhage and F. Lammert

      Article first published online: 5 APR 2013 | DOI: 10.1111/cge.12145

  7. Erratum

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTER TO THE EDITORS
    8. Erratum
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