Clinical Genetics

Cover image for Vol. 84 Issue 6

December 2013

Volume 84, Issue 6

Pages 507–604

  1. ORIGINAL ARTICLES

    1. Top of page
    2. ORIGINAL ARTICLES
    3. SHORT REPORTS
    4. LETTERS TO THE EDITOR
    1. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability (pages 507–521)

      P Callier, B Aral, N Hanna, S Lambert, H Dindy, C Ragon, M Payet, G Collod-Beroud, V Carmignac, MA Delrue, C Goizet, N Philip, T Busa, Y Dulac, I Missotte, Y Sznajer, A Toutain, C Francannet, A Megarbane, S Julia, T Edouard, P Sarda, J Amiel, S Lyonnet, V Cormier-Daire, B Gilbert, A Jacquette, D Heron, P Collignon, D Lacombe, F Morice-Picard, PS Jouk, V Cusin, M Willems, E Sarrazin, K Amarof, C Coubes, MC Addor, H Journel, E Colin, P Khau Van Kien, C Baumann, B Leheup, D Martin- Coignard, M Doco-Fenzy, A Goldenberg, G Plessis, J Thevenon, L Pasquier, S Odent, P Vabres, F Huet, N Marle, AL Mosca- Boidron, F Mugneret, S Gauthier, C Binquet, C Thauvin-Robinet, G Jondeau, C Boileau and L Faivre

      Version of Record online: 18 MAR 2013 | DOI: 10.1111/cge.12094

    2. A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity (pages 522–530)

      G Warden, D Harnett, J Green, T Wish, MO Woods, R Green, E Dicks, P Rahman, G Zhai and P Parfrey

      Version of Record online: 7 FEB 2013 | DOI: 10.1111/cge.12080

    3. Novel mutations of the PRKAR1A gene in patients with acrodysostosis (pages 531–538)

      F Muhn, E Klopocki, L Graul-Neumann, S Uhrig, A Colley, M Castori, E Lankes, W Henn, U Gruber-Sedlmayr, W Seifert and D Horn

      Version of Record online: 21 FEB 2013 | DOI: 10.1111/cge.12106

    4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study (pages 539–545)

      P Makrythanasis, BW van Bon, M Steehouwer, B Rodríguez-Santiago, M Simpson, P Dias, BM Anderlid, P Arts, M Bhat, B Augello, E Biamino, EMHF Bongers, M del Campo, I Cordeiro, AM Cueto-González, I Cuscó, C Deshpande, E Frysira, L Izatt, R Flores, E Galán, B Gener, C Gilissen, SM Granneman, J Hoyer, HG Yntema, CM Kets, DA Koolen, CL Marcelis, A Medeira, L Micale, S Mohammed, SA de Munnik, A Nordgren, S Psoni, W Reardon, N Revencu, T Roscioli, M Ruiterkamp-Versteeg, HG Santos, J Schoumans, JHM Schuurs-Hoeijmakers, MC Silengo, L Toledo, T Vendrell, I van der Burgt, B van Lier, C Zweier, A Reymond, RC Trembath, L Perez-Jurado, J Dupont, BBA de Vries, HG Brunner, JA Veltman, G Merla, SE Antonarakis and A Hoischen

      Version of Record online: 26 APR 2013 | DOI: 10.1111/cge.12081

    5. Prevalence and risk of migraine headaches in adult fragile X premutation carriers (pages 546–551)

      J Au, RS Akins, L Berkowitz-Sutherland, H-T Tang, Y Chen, A Boyd, F Tassone, DV Nguyen and R Hagerman

      Version of Record online: 21 FEB 2013 | DOI: 10.1111/cge.12109

  2. SHORT REPORTS

    1. Top of page
    2. ORIGINAL ARTICLES
    3. SHORT REPORTS
    4. LETTERS TO THE EDITOR
    1. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families (pages 552–559)

      G Storkanova, H Vlaskova, N Chuzhanova, J Zeman, V Stranecky, F Majer, K Peskova, O Luksan, M Jirsa, M Hrebicek and L Dvorakova

      Version of Record online: 7 FEB 2013 | DOI: 10.1111/cge.12085

    2. Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci (pages 560–565)

      B Chilian, H Abdollahpour, T Bierhals, I Haltrich, G Fekete, I Nagel, G Rosenberger and K Kutsche

      Version of Record online: 21 FEB 2013 | DOI: 10.1111/cge.12105

    3. PLP1 gene analysis in 88 patients with leukodystrophy (pages 566–571)

      P Martínez-Montero, M Muñoz-Calero, E Vallespín, J Campistol, L Martorell, MJ Ruiz-Falcó, A Santana, R Pons, A Dinopoulos, C Sierra, J Nevado and J Molano

      Version of Record online: 11 MAR 2013 | DOI: 10.1111/cge.12103

    4. Early development and regression in Rett syndrome (pages 572–576)

      JYL Lee, H Leonard, JP Piek and J Downs

      Version of Record online: 11 MAR 2013 | DOI: 10.1111/cge.12110

    5. Mosaicism in von Hippel–Lindau disease with severe renal manifestations (pages 581–584)

      P Wu, N Zhang, X Wang, T Li, X Ning, D Bu and K Gong

      Version of Record online: 5 FEB 2013 | DOI: 10.1111/cge.12092

    6. High carrier frequency of 21-hydroxylase deficiency in Cyprus (pages 585–588)

      AAP Phedonos, C Shammas, N Skordis, TC Kyriakides, V Neocleous and LA Phylactou

      Version of Record online: 22 APR 2013 | DOI: 10.1111/cge.12153

    7. Prevalence of GNE p.M712T and hereditary inclusion body myopathy (HIBM) in Sangesar population of Northern Iran (pages 589–592)

      H Khademian, E Mehravar, JA Urtizberea, S Sagoo, L Sandoval, R Carbajo, B Darvish, Y Valles-Ayoub and D Darvish

      Version of Record online: 21 FEB 2013 | DOI: 10.1111/cge.12086

    8. PTEN mosaicism with features of Cowden syndrome (pages 593–595)

      A Gammon, K Jasperson, R Pilarski, TW Prior and S Kuwada

      Version of Record online: 20 JAN 2013 | DOI: 10.1111/cge.12078

  3. LETTERS TO THE EDITOR

    1. Top of page
    2. ORIGINAL ARTICLES
    3. SHORT REPORTS
    4. LETTERS TO THE EDITOR
    1. 190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly (pages 596–599)

      C Coutton, M Bidart, J Rendu, F Devillard, G Vieville, F Amblard, G Lopez, P-S Jouk and V Satre

      Version of Record online: 25 MAR 2013 | DOI: 10.1111/cge.12113

    2. Beckwith–Wiedemann syndrome: first epigenetic confirmed case report in China (pages 603–604)

      T Zhang, X Xie, D Xu, W Lu, C Dong, R Liu, T Yang, X Wang, Y An and H Yu

      Version of Record online: 5 APR 2013 | DOI: 10.1111/cge.12096

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