Clinical Genetics

Cover image for Vol. 81 Issue 2

February 2012

Volume 81, Issue 2

Pages 103–199

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Recent genomic advances in schizophrenia (pages 103–109)

      JL Doherty, MC O’Donovan and MJ Owen

      Version of Record online: 5 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01773.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 ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. You have full text access to this OnlineOpen article
  3. HOTSPOTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. A nasty hex on chromosome 9 causes FTD/ALS (pages 126–127)

      C Connolly

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01820.x

  4. ORIGINAL ARTICLE

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype (pages 128–141)

      G D'Amours, Z Kibar, G Mathonnet, R Fetni, F Tihy, V Désilets, S Nizard, JL Michaud and E Lemyre

      Version of Record online: 16 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01687.x

  5. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans (pages 142–149)

      Y Kim, K-G Choi, KD Park, KS Lee, KW Chung and B-O Choi

      Version of Record online: 1 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01642.x

    2. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations (pages 150–157)

      A Arnoldi, C Crimella, E Tenderini, A Martinuzzi, MG D'Angelo, O Musumeci, A Toscano, M Scarlato, M Fantin, N Bresolin and MT Bassi

      Version of Record online: 31 JAN 2011 | DOI: 10.1111/j.1399-0004.2011.01624.x

    3. Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity (pages 158–164)

      Z Ahmad, SR Phadke, E Arch, J Glass, AK Agarwal and A Garg

      Version of Record online: 25 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01580.x

    4. Prevalence and molecular characterization of abnormal hemoglobin in eastern Guangdong of southern China (pages 165–171)

      M Lin, Q Wang, L Zheng, Y Huang, F Lin, CP Lin and LY Yang

      Version of Record online: 31 JAN 2011 | DOI: 10.1111/j.1399-0004.2011.01627.x

    5. High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis (pages 172–178)

      S Orrù, E Manolakos, N Orrù, H Kokotas, V Mascia, C Carcassi and MB Petersen

      Version of Record online: 18 APR 2011 | DOI: 10.1111/j.1399-0004.2011.01668.x

    6. A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa (pages 179–184)

      NC van der Merwe, N Hamel, S-R Schneider, JP Apffelstaedt, JT Wijnen and WD Foulkes

      Version of Record online: 10 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01617.x

    7. Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II (pages 185–190)

      YB Sohn, C-S Ki, C-H Kim, A-R Ko, Y-J Yook, S-J Lee, SJ Kim, SW Park, S Yeau, E-K Kwon, SJ Han, EW Choi, S-Y Lee, J-W Kim and D-K Jin

      Version of Record online: 24 FEB 2011 | DOI: 10.1111/j.1399-0004.2011.01641.x

      Corrected by:

      Corrigendum

      Vol. 82, Issue 3, 300, Version of Record online: 12 AUG 2012

  6. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. HOTSPOTS
    5. ORIGINAL ARTICLE
    6. SHORT REPORTS
    7. LETTERS TO THE EDITOR
    1. CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis (pages 191–197)

      FC Connell, K Kalidas, P Ostergaard, G Brice, V Murday, PS Mortimer, I Jeffrey, S Jeffery and Sahar Mansour

      Version of Record online: 12 JAN 2012 | DOI: 10.1111/j.1399-0004.2011.01731.x

    2. A novel mutation in PRDM5 in brittle cornea syndrome (pages 198–199)

      MA Aldahmesh, JY Mohamed and FS Alkuraya

      Version of Record online: 29 NOV 2011 | DOI: 10.1111/j.1399-0004.2011.01808.x

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