Clinical Genetics

Cover image for Vol. 76 Issue 5

November 2009

Volume 76, Issue 5

Pages 421–495

  1. Original Article

    1. Top of page
    2. Original Article
    3. Short Reports
    4. Letters to the Editor
    1. The contribution of founder mutations to early-onset breast cancer in French-Canadian women (pages 421–426)

      P Ghadirian, A Robidoux, P Zhang, R Royer, M Akbari, S Zhang, E Fafard, M Costa, G Martin, C Potvin, E Patocskai, N Larouche, R Younan, E Nassif, S Giroux, SA Narod, F Rousseau and WD Foulkes

      Version of Record online: 26 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01277.x

  2. Short Reports

    1. Top of page
    2. Original Article
    3. Short Reports
    4. Letters to the Editor
    1. Case report: de novo BRCA2 gene mutation in a 35-year-old woman with breast cancer (pages 427–430)

      M Marshall, S Solomon and D Lawrence Wickerham

      Version of Record online: 1 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01246.x

    2. Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients (pages 431–440)

      M Faiyaz-Ul-Haque, B Bin-Abbas, A Al-Abdullatif, H Abdullah Abalkhail, M Toulimat, S Al-Gazlan, AM Almutawa, A Al-Sagheir, I Peltekova, F Al-Dayel and SHE Zaidi

      Version of Record online: 15 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01278.x

    3. Two novel AIRE mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) among Indians (pages 441–448)

      G Zaidi, RP Sahu, L Zhang, G George, N Bhavani, N Shah, V Bhatia, A Bhansali, G Jevalikar, RV Jayakumar, GS Eisenbarth and E Bhatia

      Version of Record online: 6 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01280.x

    4. Chromosome imbalances in syndromic hearing loss (pages 458–464)

      ALPM Catelani, ACV Krepischi, CA Kim, F Kok, PA Otto, MTBM Auricchio, JF Mazzeu, DT Uehara, SS Costa, J Knijnenburg, A Tabith Jr, AM Vianna-Morgante, RC Mingroni-Netto and C Rosenberg

      Version of Record online: 6 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01276.x

    5. Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients (pages 465–470)

      GM Repetto, ML Guzmán, A Puga, JF Calderón, CP Astete, M Aracena, M Arriaza, T Aravena and P Sanz

      Version of Record online: 8 SEP 2009 | DOI: 10.1111/j.1399-0004.2009.01234.x

    6. Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism (pages 471–476)

      DZ Loesch, MS Khaniani, HR Slater, JP Rubio, QM Bui, K Kotschet, W D’Souza, A Venn, P Kalitsis, AKH Choo, T Burgess, L Johnson, A Evans and M Horne

      Version of Record online: 1 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01275.x

    7. MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever (pages 477–480)

      M Bonyadi, M Esmaeili, H Jalali, MH Somi, A Ghaffari, M Rafeey, K Sakha, N Lotfalizadeh, A Pourhassan, M Khoshbaten, MR Ardalan and N Laghaeian

      Version of Record online: 26 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01270.x

  3. Letters to the Editor

    1. Top of page
    2. Original Article
    3. Short Reports
    4. Letters to the Editor
    1. Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas (pages 481–485)

      S Nasti, L Pastorino, W Bruno, S Gargiulo, L Battistuzzi, E Zavattaro, G Leigheb, V De Francesco, A Tulli, F Mari, G Bianchi Scarrà and P Ghiorzo

      Version of Record online: 6 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01259.x

    2. Analysis of the CTNS gene in 32 cystinosis patients from Spain (pages 486–489)

      J Macías-Vidal, M Rodés, JM Hernández-Pérez, MA Vilaseca and MJ Coll

      Version of Record online: 26 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01222.x

    3. Novel B3GALTL mutation in Peters-plus Syndrome (pages 490–492)

      J Dassie-Ajdid, A Causse, A Poidvin, M Granier, J Kaplan, L Burglen, D Doummar, P Teisseire, A Vigouroux, F Malecaze, P Calvas and N Chassaing

      Version of Record online: 1 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01253.x

    4. Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome (pages 493–495)

      Kai Brakensiek, Christine Fegbeutel, Madeleine Mälzer, Martin Strüber, Hans Kreipe and Manfred Stuhrmann

      Version of Record online: 1 OCT 2009 | DOI: 10.1111/j.1399-0004.2009.01261.x

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