Clinical Genetics

Cover image for Clinical Genetics

August 2008

Volume 74, Issue 2

Pages 97–195

  1. Review

    1. Top of page
    2. Review
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
  2. Original Articles

    1. Top of page
    2. Review
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population (pages 105–115)

      HR Han, H-J Ryu, HS Cha, MJ Go, Y Ahn, BK Koo, YM Cho, HK Lee, NH Cho, C Shin, HD Shin, K Kimm, H-L Kim, B Oh and KS Park

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01033.x

    2. Laminopathies in Russian families (pages 127–133)

      GE Rudenskaya, AV Polyakov, SM Tverskaya, EV Zaklyazminskaya, AL Chukhrova, OE Groznova and EK Ginter

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01045.x

  3. Short Reports

    1. Top of page
    2. Review
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Autism-associated familial microdeletion of Xp11.22 (pages 134–144)

      Y Qiao, X Liu, C Harvard, MJ Hildebrand, E Rajcan-Separovic, JJA Holden and MES Lewis

      Article first published online: 21 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01028.x

    2. Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes (pages 145–154)

      FH Menko, CMF Kneepkens, N De Leeuw, EAJ Peeters, L Van Maldergem, EJ Kamsteeg, R Davidson, L Rozendaal, CA Lasham, CMP Peeters-Scholte, MC Jansweijer, Y Hilhorst-Hofstee, JJP Gille, YM Heins, AWM Nieuwint and EA Sistermans

      Article first published online: 28 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01026.x

    3. Cathepsin S genotypes are associated with Apo-A1 and HDL-cholesterol in lean and obese French populations (pages 155–163)

      N Spielmann, DM Mutch, F Rousseau, F Tores, J Hager, S Bertrais, A Basdevant, P Tounian, B Dubern, P Galan and K Clément

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01043.x

    4. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders (pages 164–170)

      F Brancati, L Travaglini, D Zablocka, E Boltshauser, P Accorsi, G Montagna, JL Silhavy, G Barrano, E Bertini, F Emma, L Rigoli, The International JSRD Study Group, B Dallapiccola, JG Gleeson and EM Valente

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01047.x

    5. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia (pages 171–177)

      K Brakensiek, H Frye-Boukhriss, M Mälzer, M Abramowicz, MJ Bahr, N Von Beckerath, C Bergmann, M Caselitz, E Holinski-Feder, P Muschke, K Oexle, G Strobl-Wildemann, G Wolff, EA El-Harith and M Stuhrmann

      Article first published online: 21 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01029.x

    6. Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax (pages 178–183)

      H-Z Ren, C-C Zhu, C Yang, S-L Chen, J Xie, Y-Y Hou, Z-F Xu, D-J Wang, D-K Mu, D-H Ma, Y Wang, M-H Ye, Z-R Ye, B-F Chen, C-G Wang, J Lin, D Qiao and L Yi

      Article first published online: 25 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01030.x

  4. Letters to the Editor

    1. Top of page
    2. Review
    3. Original Articles
    4. Short Reports
    5. Letters to the Editor
    1. Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families (pages 189–193)

      M Faiyaz-Ul-Haque, SHE Zaidi, AA Wahab, A Eltohami, MS Al-Mureikhi, G Al-Thani, VD Peltekova, L-C Tsui and AS Teebi

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01049.x

    2. Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene (pages 194–195)

      MF Coutinho, L Lacerda, MJ Prata, H Ribeiro, L Lopes, C Ferreira and S Alves

      Article first published online: 2 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01040.x

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