Clinical Genetics

Cover image for Vol. 83 Issue 6

June 2013

Volume 83, Issue 6

Pages 499–599

  1. REVIEW

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. Human facial dysostoses (pages 499–510)

      D Wieczorek

      Version of Record online: 8 APR 2013 | DOI: 10.1111/cge.12123

  2. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
  3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. The Cuban program for predictive testing of SCA2: 11 years and 768 individuals to learn from (pages 518–524)

      T Cruz-Mariño, L Velázquez-Pérez, Y González-Zaldivar, R Aguilera-Rodríguez, M Velázquez-Santos, Y Vázquez-Mojena, A Estupiñán-Rodríguez, JM Laffita-Mesa, R Reynaldo-Armiñán, LE Almaguer-Mederos and M Paneque

      Version of Record online: 23 APR 2013 | DOI: 10.1111/cge.12142

      Section Editor:

      Aad Tibben, email: a.tibben@lumc.nl

  4. HOTSPOTS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
  5. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome (pages 530–538)

      E García-Molina, J Lacunza, F Ruiz-Espejo, M Sabater, A García-Alberola, JR Gimeno, F Cañizares, A García, P Martínez, M Valdés and I Tovar

      Version of Record online: 16 OCT 2012 | DOI: 10.1111/cge.12017

    2. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis (pages 539–544)

      AF Goodwin, S Oberoi, M Landan, C Charles, J Groth, A Martinez, C Fairley, LA Weiss, WE Tidyman, OD Klein and KA Rauen

      Version of Record online: 27 SEP 2012 | DOI: 10.1111/cge.12005

  6. SHORT REPORTS

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree (pages 560–564)

      X Xu, L Zhang, P Tong, G Xun, W Su, Z Xiong, T Zhu, Y Zheng, S Luo, Y Pan, K Xia and Z Hu

      Version of Record online: 28 SEP 2012 | DOI: 10.1111/cge.12014

    2. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth (pages 565–570)

      T Sevilla, D Martínez-Rubio, C Márquez, C Paradas, J Colomer, T Jaijo, JM Millán, F Palau and C Espinós

      Version of Record online: 10 OCT 2012 | DOI: 10.1111/cge.12015

    3. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease (pages 571–575)

      M Cadieux-Dion, E Andermann, P Lachance-Touchette, O Ansorge, C Meloche, A Barnabé, RI Kuzniecky, F Andermann, E Faught, S Leonberg, JA Damiano, SF Berkovic, GA Rouleau and P Cossette

      Version of Record online: 7 NOV 2012 | DOI: 10.1111/cge.12020

    4. Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease (pages 576–581)

      C Zizzo, P Colomba, G Albeggiani, R Gallizzi, F Iemolo, D Nuzzo, S Vasto, C Caruso and G Duro

      Version of Record online: 20 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01940.x

  7. CORRESPONDENCES

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. Response to Zizzo et al. (pages 582–583)

      I Simsek, S Yilmaz, M Cinar, H Erdem and S Pay

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12135

    2. Response to Simsek et al. (page 584)

      G Duro, C Zizzo and P Colomba

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12134

  8. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEW
    3. DEVELOPMENTAL BIOLOGY: FRONTIERS FOR CLINICAL GENETICS
    4. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    5. HOTSPOTS
    6. ORIGINAL ARTICLES
    7. SHORT REPORTS
    8. CORRESPONDENCES
    9. LETTERS TO THE EDITOR
    1. Clinical and genetic analysis of patients with X-linked hyper-IgM syndrome (pages 585–587)

      A Vargas-Hernández, L Berrón-Ruiz, T Staines-Boone, MdC Zarate-Hernández, WO Córdova-Calderón, FJ Espinosa-Rosales and L Santos-Argumedo

      Version of Record online: 10 SEP 2012 | DOI: 10.1111/j.1399-0004.2012.01953.x

    2. Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression (pages 591–593)

      M Clendenning, FA Macrae, MD Walsh, RJ Walters, SN Thibodeau, SR Gunawardena, JD Potter, RW Haile, S Gallinger, Colorectal Cancer Family Registry, JL Hopper, MA Jenkins, C Rosty, JP Young and DD Buchanan

      Version of Record online: 27 SEP 2012 | DOI: 10.1111/cge.12011

    3. Novel SLC9A6 mutations in two families with Christianson syndrome (pages 596–597)

      A Riess, E Rossier, R Krüger, A Dufke, S Beck-Woedl, V Horber, M Alber, D Gläser, O Riess and A Tzschach

      Version of Record online: 30 AUG 2012 | DOI: 10.1111/j.1399-0004.2012.01948.x

    4. Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient (pages 598–599)

      N Dharajiya, KM Chisholm, L Dietz, C Sue Richards, M Kharrazi and I Schrijver

      Version of Record online: 28 SEP 2012 | DOI: 10.1111/cge.12012

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