Clinical Genetics

Cover image for Vol. 72 Issue 2

August 2007

Volume 72, Issue 2

Pages 67–166

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
  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 Articles
    6. Short Reports
    7. Letters to the Editor
    1. A comparison of counselee and counselor satisfaction in reproductive genetic counseling (pages 74–82)

      CM Aalfs, FJ Oort, JCJM de Haes, NJ Leschot and EMA Smets

      Version of Record online: 5 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00834.x

  3. HotSpots

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Sweet successes in diabetes genetics (pages 83–86)

      SM Clee

      Version of Record online: 26 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00835.x

  4. Original Articles

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women (pages 87–97)

      C Apicella, JG Dowty, GS Dite, MA Jenkins, RT Senie, MB Daly, IL Andrulis, EM John, SS Buys, FP Li, G Glendon, W Chung, H Ozcelik, A Miron, K Kotar, MC Southey, WD Foulkes and JL Hopper

      Version of Record online: 5 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00841.x

    2. Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation (pages 98–108)

      A Selicorni, S Russo, C Gervasini, P Castronovo, D Milani, F Cavalleri, A Bentivegna, M Masciadri, A Domi, MT Divizia, C Sforzini, E Tarantino, L Memo, G Scarano and L Larizza

      Version of Record online: 5 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00832.x

    3. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis (pages 109–111)

      L Gort, R Santamaria, D Grinberg, L Vilageliu and A Chabás

      Version of Record online: 4 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00843.x

  5. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability (pages 112–121)

      A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh-Bergès, I Delpierre, S Audollent, S Wiener-Vacher, A-L Mansbach, J Amiel, C Baumann, D Bremond-Gignac, T Attié-Bitach, A Verloes and D Sanlaville

      Version of Record online: 20 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00821.x

    2. Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification (pages 122–129)

      FJ Hes, RB van der Luijt, ALW Janssen, RA Zewald, GJ de Jong, JW Lenders, TP Links, GPM Luyten, RH Sijmons, HJ Eussen, DJJ Halley, CJM Lips, PL Pearson, AMW van den Ouweland and DF Majoor-Krakauer

      Version of Record online: 4 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00827.x

    3. Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree (pages 130–137)

      NC Meyer, CJ Nishimura, S McMordie and RJH Smith

      Version of Record online: 26 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00828.x

    4. Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene (pages 138–144)

      LCP Govaerts, AE Smit, JJ Saris, F VanderWerf, R Willemsen, CE Bakker, CI De Zeeuw and BA Oostra

      Version of Record online: 11 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00829.x

    5. Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate (pages 145–149)

      AM Koivisto, S Ala-Mello, S Lemmelä, HA Komu, J Rautio and I Järvelä

      Version of Record online: 4 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00836.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Original Articles
    6. Short Reports
    7. Letters to the Editor
    1. Response to Cohen (page 161)

      J Charrow, B Dulisse, GA Grabowski and NJ Weinreb

      Version of Record online: 5 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00838.x

    2. Transmission of familial Mediterranean fever mutations following bone marrow transplantation (pages 162–163)

      I Touitou, B Dumont, M Pourtein, S Perelman, A Sirvent and C Soler

      Version of Record online: 27 MAY 2007 | DOI: 10.1111/j.1399-0004.2007.00840.x

    3. Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar (pages 164–166)

      M Faiyaz-Ul-Haque, SHE Zaidi, MS Al-Mureikhi, I Peltekova, L-C Tsui and AS Teebi

      Version of Record online: 5 JUL 2007 | DOI: 10.1111/j.1399-0004.2007.00846.x

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