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There are 4668 results for: content related to: Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

  1. 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

  2. Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

    Clinical Genetics

    Volume 83, Issue 5, May 2013, Pages: 408–416, M Sabatelli, A Conte and M Zollino

    Article first published online : 12 MAR 2013, DOI: 10.1111/cge.12117

  3. 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

  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. Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Clinical Genetics

    C. Mouden, C. Dubourg, W. Carré, S. Rose, C. Quelin, L. Akloul, H. Hamdi-Rozé, G. Viot, H. Salhi, P. Darnault, S. Odent, V. Dupé and V. David

    Article first published online : 16 FEB 2016, DOI: 10.1111/cge.12722

  6. You have free access to this content
    Genetic aspects of Huntington's disease in Latin America. A systematic review

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 295–303, R.M. Castilhos, M.C. Augustin, J.A. Santos, C. Perandones, M.L. Saraiva-Pereira, L.B. Jardim and on Behalf of Rede Neurogenética

    Article first published online : 13 AUG 2015, DOI: 10.1111/cge.12641

  7. Genetics of human Bardet–Biedl syndrome, an updates

    Clinical Genetics

    S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman and S. Khan

    Article first published online : 9 FEB 2016, DOI: 10.1111/cge.12737

  8. Fetal growth patterns in Beckwith–Wiedemann syndrome

    Clinical Genetics

    A. Mussa, S. Russo, A. de Crescenzo, A. Freschi, L. Calzari, S. Maitz, M. Macchiaiolo, C. Molinatto, G. Baldassarre, M. Mariani, L. Tarani, M.F. Bedeschi, D. Milani, D. Melis, A. Bartuli, M.V. Cubellis, A. Selicorni, M.C. Silengo, L. Larizza, A. Riccio and G.B. Ferrero

    Article first published online : 15 MAR 2016, DOI: 10.1111/cge.12759

  9. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

    Clinical Genetics

    Volume 89, Issue 5, May 2016, Pages: 630–635, M. Lefebvre, D. Sanlaville, N. Marle, C. Thauvin-Robinet, E. Gautier, S.E. Chehadeh, A.-L. Mosca-Boidron, J. Thevenon, P. Edery, M.-P. Alex-Cordier, M. Till, S. Lyonnet, V. Cormier-Daire, J. Amiel, A. Philippe, S. Romana, V. Malan, A. Afenjar, S. Marlin, S. Chantot-Bastaraud, P. Bitoun, B. Heron, E. Piparas, F. Morice-Picard, S. Moutton, N. Chassaing, A. Vigouroux-Castera, J. Lespinasse, S. Manouvrier-Hanu, O. Boute-Benejean, C. Vincent-Delorme, F. Petit, N.L. Meur, M. Marti-Dramard, A.-M. Guerrot, A. Goldenberg, S. Redon, C. Ferrec, S. Odent, C.L. Caignec, S. Mercier, B. Gilbert-Dussardier, A. Toutain, S. Arpin, S. Blesson, I. Mortemousque, E. Schaefer, D. Martin, N. Philip, S. Sigaudy, T. Busa, C. Missirian, F. Giuliano, H.K. Benailly, P.K.V. Kien, B. Leheup, C. Benneteau, L. Lambert, R. Caumes, P. Kuentz, I. François, D. Heron, B. Keren, E. Cretin, P. Callier, S. Julia and L. Faivre

    Article first published online : 4 JAN 2016, DOI: 10.1111/cge.12696

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

    Clinical Genetics

    Volume 87, Issue 5, May 2015, Pages: 401–410, 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

  11. Expanding the genotypic spectrum of Perrault syndrome

    Clinical Genetics

    L.A.M. Demain, J.E. Urquhart, J. O'Sullivan, S.G. Williams, S.S. Bhaskar, E.M. Jenkinson, C.M. Lourenco, A. Heiberg, S.H. Pearce, S.A. Shalev, W.W. Yue, S. Mackinnon, K.J. Munro, R. Newbury-Ecob, K. Becker, M.J. Kim, R.T. O' Keefe and W.G. Newman

    Article first published online : 1 APR 2016, DOI: 10.1111/cge.12776

  12. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

    Clinical Genetics

    Volume 89, Issue 4, April 2016, Pages: 501–506, M. Avila, D.A. Dyment, J.V. Sagen, J. St-Onge, U. Moog, B.H.Y. Chung, S. Mo, S. Mansour, A. Albanese, S. Garcia, D.O. Martin, A.A. Lopez, T. Claudi, R. König, S.M. White, S.L. Sawyer, J.A. Bernstein, L. Slattery, R.K. Jobling, G. Yoon, C.J. Curry, M.L. Merrer, B.L. Luyer, D. Héron, M. Mathieu-Dramard, P. Bitoun, S. Odent, J. Amiel, P. Kuentz, J. Thevenon, M. Laville, Y. Reznik, C. Fagour, M.-L. Nunes, D. Delesalle, S. Manouvrier, O. Lascols, F. Huet, C. Binquet, L. Faivre, J.-B. Rivière, C. Vigouroux, P.R. Njølstad, A.M. Innes and C. Thauvin-Robinet

    Article first published online : 27 NOV 2015, DOI: 10.1111/cge.12688

  13. 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

  14. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

    Clinical Genetics

    S. Boppudi, N. Bögershausen, H.B. Hove, E.F. Percin, D. Aslan, R. Dvorsky, G. Kayhan, Y. Li, C. Cursiefen, I. Tantcheva-Poor, P.B. Toft, O. Bartsch, C. Lissewski, I. Wieland, S. Jakubiczka, B. Wollnik, M.R. Ahmadian, L.M. Heindl and M. Zenker

    Article first published online : 29 APR 2016, DOI: 10.1111/cge.12775

  15. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness

    Clinical Genetics

    M. Neuillé, S. Malaichamy, M. Vadalà, C. Michiels, C. Condroyer, R. Sachidanandam, S. Srilekha, T. Arokiasamy, M. Letexier, V. Démontant, J.-A. Sahel, P. Sen, I. Audo, N. Soumittra and C. Zeitz

    Article first published online : 4 MAR 2016, DOI: 10.1111/cge.12746

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    Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

    Clinical Genetics

    Volume 89, Issue 3, March 2016, Pages: 275–284, S.L. Sawyer, T. Hartley, D.A. Dyment, C.L. Beaulieu, J. Schwartzentruber, A. Smith, H.M. Bedford, G. Bernard, F.P. Bernier, B. Brais, D.E. Bulman, J. Warman Chardon, D. Chitayat, J. Deladoëy, B.A. Fernandez, P. Frosk, M.T. Geraghty, B. Gerull, W. Gibson, R.M. Gow, G.E. Graham, J.S. Green, E. Heon, G. Horvath, A.M. Innes, N. Jabado, R.H. Kim, R.K. Koenekoop, A. Khan, O.J. Lehmann, R. Mendoza-Londono, J.L. Michaud, S.M. Nikkel, L.S. Penney, C. Polychronakos, J. Richer, G.A. Rouleau, M.E. Samuels, V.M. Siu, O. Suchowersky, M.A. Tarnopolsky, G. Yoon, F.R. Zahir, FORGE Canada Consortium, Care4Rare Canada Consortium, J. Majewski and K.M. Boycott

    Article first published online : 22 SEP 2015, DOI: 10.1111/cge.12654

  17. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

    Clinical Genetics

    Volume 83, Issue 3, March 2013, Pages: 251–256, SK Holman, T Morgan, G Baujat, V Cormier-Daire, T-J Cho, M Lees, J Samanich, D Tapon, HD Hove, A Hing, R Hennekam and SP Robertson

    Article first published online : 5 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01905.x

  18. Coffin–Siris syndrome is a SWI/SNF complex disorder

    Clinical Genetics

    Volume 85, Issue 6, June 2014, Pages: 548–554, Y. Tsurusaki, N. Okamoto, H. Ohashi, S. Mizuno, N. Matsumoto, Y. Makita, M. Fukuda, B. Isidor, J. Perrier, S. Aggarwal, A.B. Dalal, A. Al-Kindy, J. Liebelt, D. Mowat, M. Nakashima, H. Saitsu, N. Miyake and N. Matsumoto

    Article first published online : 23 JUL 2013, DOI: 10.1111/cge.12225

  19. You have free access to this content
    Genetics of the corneal endothelial dystrophies: an evidence-based review

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 109–119, A J Aldave, J Han and R F Frausto

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12191

  20. The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 303–314, FC Connell, K Gordon, G Brice, V Keeley, S Jeffery, PS Mortimer, S Mansour and P Ostergaard

    Article first published online : 27 JUN 2013, DOI: 10.1111/cge.12173