Clinical Genetics

Cover image for Vol. 82 Issue 1

July 2012

Volume 82, Issue 1

Pages 1–101

  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. LETTERS TO THE EDITOR
    1. The Ehlers–Danlos syndrome, a disorder with many faces (pages 1–11)

      A De Paepe and F Malfait

      Version of Record online: 15 MAR 2012 | DOI: 10.1111/j.1399-0004.2012.01858.x

    2. Stüve–Wiedemann syndrome and related bent bone dysplasias (pages 12–21)

      N A Akawi, B R Ali and L Al-Gazali

      Version of Record online: 21 FEB 2012 | DOI: 10.1111/j.1399-0004.2012.01852.x

  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. LETTERS TO THE EDITOR
    1. Chinese Americans' views of prenatal genetic testing in the genomic era: a qualitative study (pages 22–27)

      Lei-Shih Chen, Mei Zhao, Qiong Zhou and Lei Xu

      Version of Record online: 13 APR 2012 | DOI: 10.1111/j.1399-0004.2012.01871.x

      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. LETTERS TO THE EDITOR
  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. LETTERS TO THE EDITOR
    1. What can we learn from old microdeletion syndromes using array-CGH screening? (pages 41–47)

      A L Mosca-Boidron, S Bouquillon, L Faivre, P Callier, J Andrieux, N Marle, C Bonnet, C Vincent-Delorme, M Berri, G Plessis, S Manouvrier-Hanu, A Dieux-Coeslier, C Thauvin-Robinet, E Pipiras, A Delahaye, M Payet, C Ragon, A Masurel-Paulet, E Questiaux, B Benzacken, P Jonveaux, F Mugneret and M Holder-Espinasse

      Version of Record online: 26 JUL 2011 | DOI: 10.1111/j.1399-0004.2011.01747.x

  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. LETTERS TO THE EDITOR
    1. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation (pages 48–55)

      S Khan, S Basit, F K Zimri, N Ali, G Ali, M Ansar and W Ahmad

      Version of Record online: 27 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01698.x

    2. Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment (pages 56–63)

      K Lee, S Khan, A Islam, M Ansar, P B Andrade, S Kim, R L P Santos-Cortez, W Ahmad and S M Leal

      Version of Record online: 25 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01695.x

    3. Molecular testing in congenital adrenal hyperplasia due to 21α-hydroxylase deficiency in the era of newborn screening (pages 64–70)

      K Sarafoglou, C P Lorentz, N Otten, W S Oetting and S K G Grebe

      Version of Record online: 3 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01694.x

    4. Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease (pages 77–82)

      S Y Kim, M W Seong, B S Jeon, S Y Kim, H S Ko, J Y Kim and S S Park

      Version of Record online: 29 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01693.x

    5. Clinical heterogeneity in Italian patients with amyotrophic lateral sclerosis (pages 83–87)

      I Piaceri, M Del Mastio, A Tedde, S Bagnoli, S Latorraca, F Massaro, M Paganini, A Corrado, S Sorbi and B Nacmias

      Version of Record online: 30 JUN 2011 | DOI: 10.1111/j.1399-0004.2011.01726.x

    6. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene (pages 88–92)

      D Z Loesch, S Sherwell, G Kinsella, F Tassone, A Taylor, D Amor, S Sung and A Evans

      Version of Record online: 28 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01675.x

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLES
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene (pages 93–96)

      N Ronce, I Maystadt, C Hubert, S Vonwill, K Devriendt, M-P Moizard and M Raynaud

      Version of Record online: 30 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01782.x

    2. Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion (pages 97–99)

      P Grandval, S Baert-Desurmont, F Bonnet, M Bronner, M-P Buisine, C Colas, T Noguchi, M-O North, J-M Rey, J Tinat, C Toulas and S Olschwang

      Version of Record online: 16 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01826.x

    3. Rare occurrence of PALB2 mutations in ovarian cancer patients from the Volga-Ural region (pages 100–101)

      D Prokofyeva, N Bogdanova, M Bermisheva, G Zinnatullina, P Hillemanns, E Khusnutdinova and T Dörk

      Version of Record online: 6 FEB 2012 | DOI: 10.1111/j.1399-0004.2011.01824.x

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