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There are 1599 results for: content related to: Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

  1. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

    Clinical Genetics

    Volume 84, Issue 6, December 2013, 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

    Article first published online : 18 MAR 2013, DOI: 10.1111/cge.12094

  2. Molecular characterization of 39 de novosSMC: contribution to prognosis and genetic counselling, a prospective study

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 233–244, N. Marle, D. Martinet, A. Aboura, G. Joly-Helas, J. Andrieux, E. Flori, J. Puechberty, F. Vialard, D. Sanlaville, S. Fert Ferrer, G. Bourrouillou, A.C. Tabet, B. Quilichini, B. Simon-Bouy, A. Bazin, M. Becker, H. Stora, S. Amblard, M. Doco-Fenzy, D. Molina Gomes, F. Girard-Lemaire, M.P. Cordier, V. Satre, A. Schneider, N. Lemeur, P. Chambon, S. Jacquemont, F. Fellmann, A. Vigouroux-Castera, R. Molignier, A. Delaye, E. Pipiras, A. Liquier, T. Rousseau, A.L. Mosca, V. Kremer, M. Payet, C. Rangon, F. Mugneret, S. Aho, L. Faivre and P. Callier

    Article first published online : 5 APR 2013, DOI: 10.1111/cge.12138

  3. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

    Clinical Genetics

    Volume 84, Issue 6, December 2013, 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

    Article first published online : 26 APR 2013, DOI: 10.1111/cge.12081

  5. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines

    Clinical Genetics

    J.A. Anderson, R.Z. Hayeems, C. Shuman, M.J. Szego, N. Monfared, S. Bowdin, R. Zlotnik Shaul and M.S. Meyn

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12460

  6. Attitudinal concordance toward uptake and disclosure of genetic testing for cancer susceptibility in patient–family member dyads

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 112–120, D.W. Shin, J. Cho, D.L. Roter, S.Y. Kim, Ji.H. Park, B. Cho, H.-S. Eom, J.-S. Chung, H.-K. Yang and Jo.-H. Park

    Article first published online : 28 FEB 2014, DOI: 10.1111/cge.12343

  7. You have full text access to this OnlineOpen article
    The emerging era of pharmacogenomics: current successes, future potential, and challenges

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 21–28, J.W. Lee, F. Aminkeng, A.P. Bhavsar, K. Shaw, B.C. Carleton, M.R. Hayden and C.J.D. Ross

    Article first published online : 9 MAY 2014, DOI: 10.1111/cge.12392

  8. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families

    Clinical Genetics

    M.J. Nabais Sá, S. Sampaio, A. Oliveira, S. Alves, C.P. Moura, S.E. Silva, R. Castro, J.A. Araújo, M. Rodrigues, F. Neves, J. Seabra, C. Soares, M.A. Gaspar, I. Tavares, L. Freitas, T.C. Sousa, A.C. Henriques, F.T. Costa, E. Morgado, F.T. Sousa, J.P. Sousa, A.G. da Costa, R. Filipe, J. Garrido, J. Montalban, P. Ponce, R. Alves, B. Faria, M.F. Carvalho, M. Pestana, F. Carvalho and J.P. Oliveira

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12522

  9. Genotype–phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 422–431, SG Mehta, M Khare, R Ramani, GDJ Watts, M Simon, KE Osann, S Donkervoort, E Dec, A Nalbandian, J Platt, M Pasquali, A Wang, T Mozaffar, CD Smith and VE Kimonis

    Article first published online : 4 OCT 2012, DOI: 10.1111/cge.12000

  10. Prevalence and risk of migraine headaches in adult fragile X premutation carriers

    Clinical Genetics

    Volume 84, Issue 6, December 2013, Pages: 546–551, J Au, RS Akins, L Berkowitz-Sutherland, H-T Tang, Y Chen, A Boyd, F Tassone, DV Nguyen and R Hagerman

    Article first published online : 21 FEB 2013, DOI: 10.1111/cge.12109

  11. You have free access to this content
    Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 78–86, MC van Rij, PAM de Koning Gans, CM Aalfs, M Elting, PF Ippel, JA Maat-Kievit, S Vermeer, CC Verschuuren-Bemelmans, MJ van Belzen, RDM Belfroid, M Losekoot, JPM Geraedts, RAC Roos, A Tibben, CEM de Die-Smulders and EK Bijlsma

    Article first published online : 27 MAR 2013, DOI: 10.1111/cge.12090

  12. Phenotype–genotype correlations in patients with Marinesco–Sjögren syndrome

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 74–84, F. Ezgu, P. Krejci, S. Li, C. de Sousa, J.M. Graham Jr, I. Hansmann, W. He, K. Porpora, D. Wand, W. Wertelecki, A. Schneider and W.R. Wilcox

    Article first published online : 30 JUL 2013, DOI: 10.1111/cge.12230

  13. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

    Clinical Genetics

    M. Ruggieri, A. Polizzi, A. Spalice, V. Salpietro, R. Caltabiano, V. D'Orazi, P. Pavone, C. Pirrone, G. Magro, N. Platania, S. Cavallaro, M. Muglia and F. Nicita

    Article first published online : 22 NOV 2014, DOI: 10.1111/cge.12498

  14. You have free access to this content
    A systematic approach to assessing the clinical significance of genetic variants

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 453–463, H Duzkale, J Shen, H McLaughlin, A Alfares, MA Kelly, TJ Pugh, BH Funke, HL Rehm and MS Lebo

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12257

  15. Long-term psychosocial and behavioral adjustment in individuals receiving genetic test results in Lynch syndrome

    Clinical Genetics

    M.J. Esplen, J. Wong, M. Aronson, K. Butler, H. Rothenmund, K. Semotiuk, L. Madlensky, C. Way, E. Dicks, J. Green and S. Gallinger

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12509

  16. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    A.S.A. Cohen, S.L. Wilson, J. Trinh and X.C. Ye

    Article first published online : 7 OCT 2014, DOI: 10.1111/cge.12502

  17. Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults

    Clinical Genetics

    M. Schneider, K. Chandler, M. Tischkowitz and S. Meyer

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12517

  18. Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

    Clinical Genetics

    Volume 86, Issue 6, December 2014, Pages: 521–529, J.-J. Braun, V. Noblet, M. Durand, S. Scheidecker, A. Zinetti-Bertschy, J. Foucher, V. Marion, J. Muller, S. Riehm, H. Dollfus and S. Kremer

    Article first published online : 18 APR 2014, DOI: 10.1111/cge.12391

  19. Insights into genotype–phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

    Clinical Genetics

    S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza and C. Gervasini

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12537

  20. Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

    Clinical Genetics

    Volume 84, Issue 1, July 2013, Pages: 20–30, TB Rasmussen, J Hansen, PH Nissen, J Palmfeldt, S Dalager, UB Jensen, WY Kim, L Heickendorff, H Mølgaard, HK Jensen, KE Sørensen, UT Baandrup, P Bross and J Mogensen

    Article first published online : 3 DEC 2012, DOI: 10.1111/cge.12056