Clinical Genetics

Cover image for Vol. 76 Issue 1

July 2009

Volume 76, Issue 1

Pages 1–119

  1. Review

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
    1. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications (pages 1–18)

      HT Lynch, PM Lynch, SJ Lanspa, CL Snyder, JF Lynch and CR Boland

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01230.x

  2. HotSpots

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
    1. A new TBX gene linked to human disease (pages 23–24)

      RA Stein

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01231_3.x

  3. Short Reports

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
    1. Neuromuscular features in Marfan syndrome (pages 25–37)

      NC Voermans, J Timmermans, N Van Alfen, S Pillen, J Op Den Akker, M Lammens, MJ Zwarts, IALM Van Rooij, BC Hamel and BG Van Engelen

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01197.x

    2. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X) (pages 38–45)

      A Sarpong, a G Schottmann, b K Rüther, c G Stoltenburg, d A Kohlschütter, e C Hübner and a M Schuelke a,f

      Version of Record online: 21 MAY 2009 | DOI: 10.1111/j.1399-0004.2009.01179.x

    3. Hepatic lipase promoter C-480T polymorphism is associated with serum lipids levels, but not subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study (pages 46–53)

      Y-M Fan, a OT Raitakari, b M Kähönen, c N Hutri-Kähönen, d M Juonala, e J Marniemi, f J Viikari and g T Lehtimäki a

      Version of Record online: 22 JUN 2009 | DOI: 10.1111/j.1399-0004.2009.01180.x

    4. Identification of critical regions for clinical features of distal 10q deletion syndrome (pages 54–62)

      SA Yatsenko, MC Kruer, PI Bader, D Corzo, J Schuette, CE Keegan, B Nowakowska, S Peacock, WW Cai, DA Peiffer, KL Gunderson, Z Ou, AC Chinault and SW Cheung

      Version of Record online: 22 JUN 2009 | DOI: 10.1111/j.1399-0004.2008.01115.x

    5. Copy number variations in three children with sudden infant death (pages 63–68)

      GA Toruner, R Kurvathi, R Sugalski, L Shulman, S Twersky, PG Pearson, R Tozzi, MN Schwalb and R Wallerstein

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01161.x

    6. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III – identification of eight novel mutations (pages 76–84)

      M Encarnação, a L Lacerda, a R Costa, a MJ Prata, b MF Coutinho, a H Ribeiro, a L Lopes, a M Pineda, c J Ignatius, d H Galvez, c A Mustonen, d P Vieira, e MR Lima and a S Alves a

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01185.x

    7. A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy (pages 91–101)

      G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabrò, M Iacomino, N Detta, LM Di Fonzo, V Maddaloni, R Calabrò and F Salvatore

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01190.x

  4. Letters to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
  5. Letter to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
    1. A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families (pages 108–112)

      RP Cotarelo, O Fano, M Raducu, A Peña, P Tarilonte, F Mateos, R Simón, A Cabello and J Cruces

      Version of Record online: 9 JUN 2009 | DOI: 10.1111/j.1399-0004.2009.01188.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    6. Letter to the Editor
    7. Letters to the Editor
    1. Identification of a new form of autosomal dominant spastic paraplegia (pages 113–116)

      SH Subramony, TV Nguyen, L Langford, X Lin, AD Parent and J Zhang

      Version of Record online: 9 JUN 2009 | DOI: 10.1111/j.1399-0004.2008.01122.x

    2. HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication (pages 117–119)

      L Bernardini, L Sinibaldi, A Capalbo, I Bottillo, B Mancuso, B Torres, A Novelli, MC Digilio and B Dallapiccola

      Version of Record online: 15 JUL 2009 | DOI: 10.1111/j.1399-0004.2009.01170.x

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