Clinical Genetics

Cover image for Vol. 75 Issue 6

June 2009

Volume 75, Issue 6

Pages 505–589

  1. Review

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
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      Inverted duplications deletions: underdiagnosed rearrangements?? (pages 505–513)

      O Zuffardi, M Bonaglia, R Ciccone and R Giorda

      Article first published online: 1 JUN 2009 | DOI: 10.1111/j.1399-0004.2009.01187.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. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
  3. HotSpots

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
  4. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
    1. Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity (pages 527–536)

      A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, MI Miladi, C Goizet, J Truchetto, S Belal, A Brice and C Mhiri

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01176.x

    2. Early onset of renal cancer in a family with Birt–Hogg–Dubé syndrome (pages 537–543)

      I Kluijt, D De Jong, HJ Teertstra, PH Axwijk, JJP Gille, K Bell, A Van Rens, AWG Van Der Velden, L Middelton and S Horenblas

      Article first published online: 23 MAR 2009 | DOI: 10.1111/j.1399-0004.2009.01159.x

  5. Short Report

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
    1. VIP gene variants related to idiopathic pulmonary arterial hypertension in Chinese population (pages 544–549)

      Y Zhang, J-Q Zhang, Z-H Liu, C-M Xiong, X-H Ni, R-T Hui, J-G He and J-L Pu

      Article first published online: 1 JUN 2009 | DOI: 10.1111/j.1399-0004.2009.01196.x

  6. Short Reports

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
    1. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample (pages 550–555)

      ML Mostacciuolo, E Pastorello, G Vazza, M Miorin, C Angelini, G Tomelleri, G Galluzzi and CP Trevisan

      Article first published online: 23 MAR 2009 | DOI: 10.1111/j.1399-0004.2009.01158.x

    2. Novel and recurrent germline LEMD3 mutations causing Buschke–Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis (pages 556–561)

      Y Zhang, M Castori, G Ferranti, M Paradisi and BP Wordsworth

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01177.x

      Corrected by:

      Erratum

      Vol. 79, Issue 4, 401, Article first published online: 4 MAR 2011

    3. A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia (pages 562–567)

      A Sırmacı, H Öztürkmen-Akay, S Erbek, A İncesulu, D Duman, S Taşır-Yılmaz, H Özdağ and M Tekin

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01183.x

    4. SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome (pages 568–571)

      N Hanna, B Parfait, IM Talaat, M Vidaud and HH Elsedfy

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01149.x

  7. Letters to the Editor

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence
    1. Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants (pages 572–575)

      H-K Lee, a, S-H Lee, b, K-Y Lee, b E-J Lim, b S-Y Choi, a R-K Park and c U-K Kim a

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01181.x

    2. Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies (pages 579–581)

      A Orrico, L Galli, S Grosso, S Buoni, R Pianigiani, P Balestri and V Sorrentino

      Article first published online: 17 MAR 2009 | DOI: 10.1111/j.1399-0004.2009.01155.x

    3. Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia (pages 582–584)

      Y Shimomura, M Wajid, J Weiser, L Kraemer, Y Ishii, V Lombillo, SJ Bale and AM Christiano

      Article first published online: 5 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01178.x

    4. Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene (pages 585–587)

      MA Ramos-Arroyo, J Hualde, A Ayechu, L De Meirleir, S Seneca, N Nadal and P Briones

      Article first published online: 1 JUN 2009 | DOI: 10.1111/j.1399-0004.2009.01160.x

  8. Correspondence

    1. Top of page
    2. Review
    3. Social and Behavioural Research in Clinical Genetics
    4. HotSpots
    5. Short Reports
    6. Short Report
    7. Short Reports
    8. Letters to the Editor
    9. Correspondence

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