Clinical Genetics

Cover image for Vol. 75 Issue 3

March 2009

Volume 75, Issue 3

Pages 209–306

  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
    1. Noncoding RNAs in mental retardation (pages 209–219)

      KE Szulwach, P Jin and RS Alisch

      Version of Record online: 21 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01134.x

  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
    1. You have free access to this content
      Breast and ovarian cancer risk perception after prophylactic salpingo-oophorectomy due to an inherited mutation in the BRCA1 or BRCA2 gene (pages 220–224)

      A Finch, K Metcalfe, J Lui, C Springate, R Demsky, S Armel, B Rosen, J Murphy, L Elit, P Sun and S Narod

      Version of Record online: 17 FEB 2009 | DOI: 10.1111/j.1399-0004.2008.01117.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
    1. A prickly cause of progressive myoclonic epilepsy (pages 225–226)

      S Warby

      Version of Record online: 17 FEB 2009 | DOI: 10.1111/j.1399-0004.2009.01150_1.x

    2. Finding bald spots on chromosome 20p11 (pages 226–227)

      CN Doty

      Version of Record online: 17 FEB 2009 | DOI: 10.1111/j.1399-0004.2009.01150_2.x

  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
    1. Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene (pages 230–236)

      C Suriu, M Khayat, M Weiler, N Kfir, C Cohen, A Zinger, C Aslanidis, G Schmitz and TC Falik-Zaccai

      Version of Record online: 31 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01143.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
    1. Identities and frequencies of mutations of the otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan (pages 237–243)

      BY Choi, ZM Ahmed, S Riazuddin, MA Bhinder, M Shahzad, T Husnain, S Riazuddin, AJ Griffith and TB Friedman

      Version of Record online: 31 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01128.x

    2. 4p16.3 haplotype modifying age at onset of Huntington disease (pages 244–250)

      A Nørremølle, a E Budtz-Jørgensen, a K Fenger, a JE Nielsen, a,b SA Sørensen and a L Hasholt a

      Version of Record online: 30 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01136.x

    3. Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype (pages 251–258)

      U Zechner, N Kohlschmidt, G Rittner, N Damatova, V Beyer, T Haaf and O Bartsch

      Version of Record online: 31 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01116.x

    4. Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2 (pages 259–264)

      DH Tegay, KK Chan, L Leung, C Wang, S Burkett, G Stone, R Stanyon, HV Toriello and E Hatchwell

      Version of Record online: 18 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01145.x

    5. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations (pages 265–270)

      B Söylen, KK Singh, A Abuzainin, K Rommel, H Becker, M Arslan-Kirchner and J Schmidtke

      Version of Record online: 21 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01126.x

    6. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia (pages 271–276)

      MA Simpson, A Scheuerle, J Hurst, MA Patton, H Stewart and AH Crosby

      Version of Record online: 17 FEB 2009 | DOI: 10.1111/j.1399-0004.2008.01118.x

    7. Preimplantation genetic diagnosis in an HIV-serodiscordant couple carrier for sickle cell disease: lessons from a case report (pages 277–281)

      E Gonzalez-Merino, a,b,c V Zengbe, b AS Vannin, b I Place, b A Bostan, c S Emiliani, b,c C Liesnard, d JC Goffard, e M Abramowicz and a Y Englert b,c

      Version of Record online: 26 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01119.x

    8. Role of mutational analysis in diagnosis of tuberous sclerosis complex (pages 282–285)

      EA Vail, SK Rakowski, AL Numis and EA Thiele

      Version of Record online: 31 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01129.x

    9. Severe phenotype with cis-acting heterozygous PMP22 mutations (pages 286–289)

      D Niedrist, F Joncourt, G Mátyás and A Müller

      Version of Record online: 3 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01120.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
    1. Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome (pages 290–293)

      Y-W Lee, a SC Kim, b YL Shin, c J-W Kim, d HS Hong, e YK Lee and a C-S Ki d

      Version of Record online: 21 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01127.x

    2. Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure (pages 298–300)

      J Puechberty, C Rittore, L Philibert, G Lefort, G Burlet, P Bénos, L Reyftmann, P Sarda and I Touitou

      Version of Record online: 26 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01098.x

    3. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA (pages 301–303)

      EP Kirk, V Malaty-Brevaud, N Martini, C Lacoste, N Levy, K Maclean, L Davies, N Philip and C Badens

      Version of Record online: 13 NOV 2008 | DOI: 10.1111/j.1399-0004.2008.01102.x

    4. Two novel LKB1 mutations in Colombian Peutz–Jeghers syndrome patients (pages 304–306)

      A Vélez, MH Gaitan, JR Marquez, A Castaño, JI Restrepo, S Jaramillo, A Gamarra, M Novelli, MM Echeverry, I Tomlinson and LG Carvajal-Carmona

      Version of Record online: 30 DEC 2008 | DOI: 10.1111/j.1399-0004.2008.01144.x

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