Clinical Genetics

Cover image for Clinical Genetics

April 2008

Volume 73, Issue 4

Pages 297–399

  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
    8. Corrigendum
    1. Restless legs syndrome: an update on genetics and future perspectives (pages 297–305)

      I Pichler, AA Hicks and PP Pramstaller

      Version of Record online: 7 DEC 2007 | DOI: 10.1111/j.1399-0004.2007.00937.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 Articles
    6. Short Reports
    7. Letters to the Editor
    8. Corrigendum
    1. You have full text access to this OnlineOpen article
  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
    8. Corrigendum
  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
    8. Corrigendum
    1. Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia (pages 320–330)

      M Shoukier, U Teske, A Weise, W Engel and L Argyriou

      Version of Record online: 26 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00968.x

    2. Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity (pages 331–337)

      ES Edison, RV Shaji, SG Devi, A Moses, A Viswabandhya, V Mathews, B George, A Srivastava and M Chandy

      Version of Record online: 20 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00973.x

    3. Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families (pages 338–345)

      DGR Evans, K Young, M Bulman, A Shenton, A Wallace and F Lalloo

      Version of Record online: 26 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00974.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
    8. Corrigendum
    1. Molecular and clinical features associated with CFTR gene rearrangements in Italian population: identification of a new duplication and recurrent deletions (pages 346–352)

      V Paracchini, M Seia, D Coviello, L Porcaro, L Costantino, P Capasso, D Degiorgio, R Padoan, C Corbetta, L Claut, D Costantini and C Colombo

      Version of Record online: 13 FEB 2008 | DOI: 10.1111/j.1399-0004.2007.00957.x

    2. Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region (pages 353–359)

      MT Gabbett, GB Peters, JM Carmichael, AP Darmanian and FA Collins

      Version of Record online: 13 FEB 2008 | DOI: 10.1111/j.1399-0004.2007.00960.x

    3. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies (pages 360–366)

      S Bernal, T Solans, MJ Gamundi, I Hernan, L De Jorge, M Carballo, R Navarro, E Tizzano, C Ayuso and M Baiget

      Version of Record online: 20 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00963.x

    4. A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1 (pages 367–372)

      LM Peters, RA Fridell, ET Boger, TB San Agustin, AC Madeo, AJ Griffith, TB Friedman and RJ Morell

      Version of Record online: 13 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00966.x

    5. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia (pages 373–379)

      P Leoyklang, K Suphapeetiporn, S Wananukul and V Shotelersuk

      Version of Record online: 4 MAR 2008 | DOI: 10.1111/j.1399-0004.2008.00975.x

    6. FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus (pages 380–384)

      S Amorosi, M D’Armiento, G Calcagno, I Russo, M Adriani, AM Christiano, L Weiner, JL Brissette and C Pignata

      Version of Record online: 12 MAR 2008 | DOI: 10.1111/j.1399-0004.2008.00977.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
    8. Corrigendum
    1. Allgrove syndrome in a Mexican American family is caused by an ancestral mutation derived from North Africa (pages 385–387)

      AJ Chang, MM Kline, Y Currie, MO Perez, J Hartiala, H Wijesuriya, TA Buchanan, RM Watanabe and H Allayee

      Version of Record online: 5 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00965.x

    2. Cardioembolic stroke in Danon disease (pages 388–390)

      M Spinazzi, M Fanin, P Melacini, AC Nascimbeni and C Angelini

      Version of Record online: 26 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00971.x

    3. Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families (pages 391–394)

      HJ Yuan, DY Han, Q Sun, D Yan, HJ Sun, R Tao, J Cheng, W Qin, S Angeli, XM Ouyang, SZ Yang, L Feng, JY Cao, GY Feng, YF Wang, P Dai, SQ Zhai, WY Yang, L He and XZ Liu

      Version of Record online: 28 FEB 2008 | DOI: 10.1111/j.1399-0004.2008.00972.x

    4. Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44 (pages 395–398)

      A Bhatti, K Lee, M-L McDonald, MJ Hassan, R Gutala, M Ansar, W Ahmad and SM Leal

      Version of Record online: 4 MAR 2008 | DOI: 10.1111/j.1399-0004.2008.00976.x

  7. Corrigendum

    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
    8. Corrigendum
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