Clinical Genetics

Cover image for Vol. 77 Issue 6

June 2010

Volume 77, Issue 6

Pages 511–603

  1. Reviews

    1. Top of page
    2. Reviews
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. The Human Phenotype Ontology (pages 525–534)

      PN Robinson and S Mundlos

      Article first published online: 19 APR 2010 | DOI: 10.1111/j.1399-0004.2010.01436.x

  2. HotSpots

    1. Top of page
    2. Reviews
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
  3. Original Article

    1. Top of page
    2. Reviews
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome (pages 541–551)

      B Budny, M Badura-Stronka, A Materna-Kiryluk, A Tzschach, M Raynaud, A Latos-Bielenska and HH Ropers

      Article first published online: 19 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01429.x

  4. Short Reports

    1. Top of page
    2. Reviews
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH (pages 552–562)

      A Lindstrand, J Schoumans, P Gustavsson, N Hanemaaijer, H Malmgren and E Blennow

      Article first published online: 4 MAR 2010 | DOI: 10.1111/j.1399-0004.2009.01341.x

    2. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation (pages 563–571)

      MS Hildebrand, NP Thorne, CJ Bromhead, K Kahrizi, JA Webster, Z Fattahi, M Bataejad, WJ Kimberling, D Stephan, H Najmabadi, M Bahlo and RJH Smith

      Article first published online: 4 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01344.x

    3. Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project (pages 572–580)

      A Taylor, D Wang, K Patel, R Whittall, G Wood, M Farrer, RDG Neely, S Fairgrieve, D Nair, M Barbir, JL Jones, S Egan, R Everdale, Y Lolin, E Hughes, JA Cooper, SG Hadfield, G Norbury and SE Humphries

      Article first published online: 2 DEC 2009 | DOI: 10.1111/j.1399-0004.2009.01356.x

    4. Novel and recurrent p14ARF mutations in Italian familial melanoma (pages 581–586)

      F Binni, I Antigoni, P De Simone, S Majore, V Silipo, A Crisi, A Amantea, D Pacchiarini, M Castori, C De Bernardo, C Catricalà and P Grammatico

      Article first published online: 4 FEB 2010 | DOI: 10.1111/j.1399-0004.2009.01298.x

    5. Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre-natal diagnosis in a familial lethal form (pages 587–592)

      E Sbidian, D Feldmann, J Bengoa, S Fraitag, V Abadie, Y de Prost, C Bodemer and S Hadj-Rabia

      Article first published online: 14 APR 2010 | DOI: 10.1111/j.1399-0004.2009.01339.x

  5. Letters to the Editor

    1. Top of page
    2. Reviews
    3. HotSpots
    4. Original Article
    5. Short Reports
    6. Letters to the Editor
    1. An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient (pages 593–597)

      B Auber, P Burfeind, C Thiels, EA Alsat, M Shoukier, T Liehr, H Nelle, I Bartels, G Salinas-Riester and F Laccone

      Article first published online: 1 MAR 2010 | DOI: 10.1111/j.1399-0004.2009.01363.x

    2. Low predisposition to instability of the Friedreich ataxia gene in Cuban population (pages 598–600)

      T C Mariño, Y G Zaldivar, J M L Mesa, L A Mederos, R A Rodríguez, D A Gotay, R R Labrada, N C Ochoa, P MacLeod and L V Pérez

      Article first published online: 9 MAY 2010 | DOI: 10.1111/j.1399-0004.2009.01361.x

    3. FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome (pages 601–603)

      L Kraoua, M Chaabouni, M Trabelsi, I Chelly, F Maazoul, N Ben Abdallah, S Boukthir, S Barsaoui, H Chaabouni and R M’rad

      Article first published online: 5 MAR 2010 | DOI: 10.1111/j.1399-0004.2010.01389.x

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