Clinical Genetics

Cover image for Clinical Genetics

September 2008

Volume 74, Issue 3

Pages 197–292

  1. Review

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

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. A new STAR on the horizon (pages 209–211)

      H Visscher

      Article first published online: 5 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01065_2.x

  3. Original Articles

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland (pages 213–222)

      SJ Moore, DJ Buckley, A MacMillan, HD Marshall, L Steele, PN Ray, Z Nawaz, B Baskin, M Frecker, SM Carr, E Ives and PS Parfrey

      Article first published online: 5 AUG 2008 | DOI: 10.1111/j.1399-0004.2008.01054.x

    2. Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11 (pages 223–232)

      N Hilgert, F Alasti, N Dieltjens, B Pawlik, B Wollnik, O Uyguner, S Delmaghani, D Weil, C Petit, E Danis, T Yang, E Pandelia, MB Petersen, D Goossens, JD Favero, MH Sanati, RJH Smith and G Van Camp

      Article first published online: 9 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01053.x

  4. Short Reports

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations (pages 233–242)

      E Barrow, W Alduaij, L Robinson, A Shenton, T Clancy, F Lalloo, J Hill and DG Evans

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01035.x

    2. Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese (pages 243–251)

      K Ichida, M Hosoyamada, N Kamatani, S Kamitsuji, I Hisatome, T Shibasaki and T Hosoya

      Article first published online: 19 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01021.x

    3. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families (pages 252–259)

      MO Lexner, A Bardow, I Juncker, LG Jensen, L Almer, S Kreiborg and JM Hertz

      Article first published online: 28 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01037.x

    4. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index (pages 260–266)

      R Parini, M Rigoldi, F Santus, F Furlan, P De Lorenzo, G Valsecchi, D Concolino, P Strisciuglio, S Feriozzi, R Di Vito, R Ravaglia, R Ricci and A Morrone

      Article first published online: 28 APR 2008 | DOI: 10.1111/j.1399-0004.2008.01012.x

    5. Variable phenotypic expression of homozygous familial hypobetalipoproteinaemia due to novel APOB gene mutations (pages 267–273)

      E Di Leo, L Magnolo, M Bertolotti, M Bourbon, S Carmo Pereira, M Pirisi, S Calandra and P Tarugi

      Article first published online: 19 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01023.x

    6. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation – a family study (pages 279–283)

      F Laccone, MC Hannibal, J Neesen, W Grisold, PF Chance and H Rehder

      Article first published online: 19 MAY 2008 | DOI: 10.1111/j.1399-0004.2008.01022.x

  5. Letters to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Articles
    5. Short Reports
    6. Letters to the Editor
    1. Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart’s hydrops fetalis (pages 284–287)

      D Wattanasirichaigoon, P Promsonthi, A Chuansumrit, J Leopairut, P Yanatatsaneejit, P Rattanatanyong, T Munkongdee, S Fucharoen and A Mutirangura

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01046.x

    2. CDKL5 disruption by t(X;18) in a girl with West syndrome (pages 288–290)

      A Nishimura, T Takano, T Mizuguchi, H Saitsu, Y Takeuchi and N Matsumoto

      Article first published online: 28 JUN 2008 | DOI: 10.1111/j.1399-0004.2008.01048.x

    3. Phenotypic discordance in a pair of monozygotic twins with Huntington’s disease (pages 291–292)

      M Panas, G Karadima, M Markianos, N Kalfakis and D Vassilopoulos

      Article first published online: 9 JUL 2008 | DOI: 10.1111/j.1399-0004.2008.01036.x

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