Clinical Genetics

Cover image for Vol. 78 Issue 6

December 2010

Volume 78, Issue 6

Pages 507–603

  1. Original Article

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    1. MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures (pages 507–516)

      M Zuntini, M Salvatore, E Pedrini, A Parra, F Sgariglia, A Magrelli, D Taruscio and L Sangiorgi

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01490.x

  2. HotSpots

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

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    1. ERCC6 founder mutation identified in Finnish patients with COFS syndrome (pages 541–547)

      E Jaakkola, A Mustonen, P Olsen, S Miettinen, T Savuoja, A Raams, NGJ Jaspers, H Shao, BL Wu and J Ignatius

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01424.x

    2. Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis (pages 548–553)

      V Grossmann, M Höckner, H Karmous-Benailly, D Liang, R Puttinger, R Quadrelli, B Röthlisberger, A Huber, L Wu, A Spreiz, C Fauth, M Erdel, J Zschocke, G Utermann and D Kotzot

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01419.x

    3. Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria (pages 554–559)

      C Espinós, A García-Cazorla, D Martínez-Rubio, E Martínez-Martínez, MA Vilaseca, B Pérez-Dueñas, V Kožich, F Palau and R Artuch

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01431.x

    4. Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? (pages 560–564)

      P Castronovo, A Delahaye-Duriez, C Gervasini, J Azzollini, F Minier, S Russo, M Masciadri, A Selicorni, A Verloes and L Larizza

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01408.x

    5. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy (pages 565–569)

      M-Y Lan, M-H Fu, Y-F Liu, C-C Huang, Y-Y Chang, J-S Liu, C-H Peng and S-S Chen

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01421.x

    6. NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients (pages 575–579)

      H Takada, A Nomura, M Ishimura, M Ichiyama, S Ohga and T Hara

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01432.x

    7. Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia (pages 580–584)

      S Suzuki, D Fujisawa, K Hashimoto, T Asano, M Maimaiti, K Matsuo, Y Tanahashi, T Mukai and K Fujieda

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01433.x

    8. C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients (pages 585–590)

      AM Alazami, SA Schneider, D Bonneau, L Pasquier, M Carecchio, M Kojovic, K Steindl, M De Kerdanet, MM Nezarati, KP Bhatia, B Degos, E Goh and FS Alkuraya

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01441.x

  4. Letters to the Editor

    1. Top of page
    2. Original Article
    3. HotSpots
    4. Short Reports
    5. Letters to the Editor
    1. A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome (pages 594–597)

      K Steindl, AM Alazami, KP Bhatia, JT Wuerfel, D Petersen, R Cartolari, G Neri, C Klein, B Mongiardo, FS Alkuraya and SA Schneider

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01447.x

    2. Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome (pages 598–600)

      L Pacifico, C Carducci, E Poggiogalle, F Caravona, I Antonozzi, C Chiesa and G Maggiore

      Article first published online: 2 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01497.x

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