Clinical Genetics

Cover image for Vol. 75 Issue 5

May 2009

Volume 75, Issue 5

Pages 409–504

  1. Review

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

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

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Article
    5. HotSpots
    6. Short Reports
    7. Letters to the Editor
    1. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia (pages 429–439)

      AM Slavotinek, a A Moshrefi, a N Lopez Jiminez, a R Chao, a A Mendell, b GM Shaw, c LA Pennacchio and d,e MD Bates b

      Article first published online: 28 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01182.x

  4. HotSpots

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Article
    5. HotSpots
    6. Short Reports
    7. Letters to the Editor
    1. Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia (pages 427–428)

      Kathleen A. Bailey and Kimbery A. Aldinger

      Article first published online: 28 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01186_3.x

  5. Short Reports

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Article
    5. HotSpots
    6. Short Reports
    7. Letters to the Editor
    1. The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy (pages 440–448)

      T Sandal, LB Laborie, K Brusgaard, SÅ Eide, HBT Christesen, O Søvik, PR Njølstad and A Molven

      Article first published online: 21 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01152.x

    2. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene (pages 457–464)

      R Quental, L Azevedo, V Rubio, L Diogo and A Amorim

      Article first published online: 21 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01172.x

    3. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy (pages 465–472)

      ATJM Helderman-van den Enden, R De Jong, JT Den Dunnen, JJ Houwing-Duistermaat, ALJ Kneppers, HB Ginjaar, MH Breuning and E Bakker

      Article first published online: 15 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01173.x

    4. Proven germline mosaicism in a father of two children with CHARGE syndrome (pages 473–479)

      S Pauli, L Pieper, J Häberle, P Grzmil, P Burfeind, M Steckel, U Lenz and HW Michelmann

      Article first published online: 17 MAR 2009 | DOI: 10.1111/j.1399-0004.2009.01151.x

    5. Factors that affect hearing level in individuals with the mitochondrial 1555A>G mutation (pages 480–484)

      SY Lu, S Nishio, K Tsukada, T Oguchi, K Kobayashi, S Abe and S Usami

      Article first published online: 15 APR 2009 | DOI: 10.1111/j.1399-0004.2008.01138.x

    6. Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype (pages 485–489)

      BN Smith, a S Bevan, b C Vance, a P Renwick, c P Wilkinson, d,e C Proukakis, e F Squitieri, f A Berardelli, g TT Warner, e E Reid and b CE Shaw a,c

      Article first published online: 28 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01184.x

  6. Letters to the Editor

    1. Top of page
    2. Review
    3. HotSpots
    4. Original Article
    5. HotSpots
    6. Short Reports
    7. Letters to the Editor
    1. A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21 (pages 490–493)

      K Lezirovitz, MCC Braga, RS Thiele-Aguiar, MTBM Auricchio, PL Pearson, PA Otto and RC Mingroni-Netto

      Article first published online: 21 JAN 2009 | DOI: 10.1111/j.1399-0004.2008.01130.x

    2. Cytogenetic microarrays in Manitoba patients with developmental delay (pages 498–500)

      AJ Dawson, D Riordan, M Tomiuk, D Konkin, T Anderson, P Bocangel, N Lwiwiski, J Saltel-Olson, S Marles, CR Greenberg, A Mhanni, BN Chodirker and AE Chudley

      Article first published online: 15 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01169.x

    3. Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications (pages 503–504)

      J Vithayathil, G Gibney, AD Baxevanis, BK Stubblefield, E Sidransky and N Tayebi

      Article first published online: 28 APR 2009 | DOI: 10.1111/j.1399-0004.2009.01163.x

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