Clinical Genetics

Cover image for Vol. 80 Issue 6

December 2011

Volume 80, Issue 6

Pages 505–601

  1. HOTSPOTS

    1. Top of page
    2. HOTSPOTS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
  2. ORIGINAL ARTICLES

    1. Top of page
    2. HOTSPOTS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene (pages 510–522)

      T Fullston, M Finnis, A Hackett, B Hodgson, L Brueton, G Baynam, A Norman, O Reish, C Shoubridge and J Gecz

      Version of Record online: 18 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01685.x

    2. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia (pages 523–531)

      V Bennouna-Greene, S Kremer, C Stoetzel, D Christmann, C Schuster, M Durand, A Verloes, S Sigaudy, M Holder-Espinasse, J Godet, C Brandt, V Marion, A Danion, J-L Dietemann and H Dollfus

      Version of Record online: 25 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01688.x

    3. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations (pages 532–540)

      V Bhat, SC Girimaji, G Mohan, HR Arvinda, P Singhmar, MR Duvvari and A Kumar

      Version of Record online: 16 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01686.x

  3. SHORT REPORTS

    1. Top of page
    2. HOTSPOTS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population (pages 550–557)

      M Barbosa, AB Sousa, A Medeira, T Lourenço, J Saraiva, J Pinto-Basto, G Soares, AM Fortuna, A Superti-Furga, L Mittaz, M Reis-Lima and L Bonafé

      Version of Record online: 13 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01595.x

    2. Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations (pages 558–565)

      CHM Leenen, WRR Geurts-Giele, HJ Dubbink, R Reddingius, AM van den Ouweland, CMJ Tops, HM van de Klift, EJ Kuipers, ME van Leerdam, WNM Dinjens and A Wagner

      Version of Record online: 13 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01608.x

    3. Bone resorption in syndromes of the Ras/MAPK pathway (pages 566–573)

      DA Stevenson, EL Schwarz, JC Carey, DH Viskochil, H Hanson, S Bauer, H-Y Cindy Weng, T Greene, K Reinker, J Swensen, RJ Chan, F-C Yang, L Senbanjo, Z Yang, R Mao and M Pasquali

      Version of Record online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01619.x

    4. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene (pages 574–580)

      C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen and T Torbergsen

      Version of Record online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01616.x

    5. PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies (pages 581–585)

      S Negrisolo, E Benetti, S Centi, M Della Vella, G Ghirardo, GF Zanon, L Murer and L Artifoni

      Version of Record online: 25 NOV 2010 | DOI: 10.1111/j.1399-0004.2010.01588.x

    6. Huntington's disease in Greece: the experience of 14 years (pages 586–590)

      M Panas, G Karadima, E Vassos, N Kalfakis, A Kladi, K Christodoulou and D Vassilopoulos

      Version of Record online: 20 DEC 2010 | DOI: 10.1111/j.1399-0004.2010.01603.x

  4. LETTERS TO THE EDITOR

    1. Top of page
    2. HOTSPOTS
    3. ORIGINAL ARTICLES
    4. SHORT REPORTS
    5. LETTERS TO THE EDITOR
    1. Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot (pages 591–594)

      V Guida, F Chiappe, R Ferese, G Usala, G Maestrale, C Iannascoli, E Bellacchio, R Mingarelli, MC Digilio, B Marino, M Uda, A De Luca and B Dallapiccola

      Version of Record online: 24 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01710.x

    2. Diagnostic accuracy of non-invasive prenatal sex determination: a large-scale study (pages 595–597)

      M Centra, E Picchiassi, V Bini, F Tarquini, L Pennacchi, I Koutras, GC Di Renzo and G Coata

      Version of Record online: 24 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01696.x

    3. A GPHN point mutation leading to molybdenum cofactor deficiency (pages 598–599)

      J Reiss, U Lenz, C Aquaviva-Bourdain, S Joriot-Chekaf, K Mention-Mulliez and M Holder-Espinasse

      Version of Record online: 24 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01709.x

    4. Pitt–Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype (pages 600–601)

      K Takano, W-H Tan, MB Irons, JR Jones and CE Schwartz

      Version of Record online: 24 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01711.x

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