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There are 2268 results for: content related to: Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis

  1. 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

  2. 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

  3. 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

  4. 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

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    Detection of novel genetic variation in autosomal dominant retinitis pigmentosa

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 441–452, E Borràs, M de Sousa Dias, I Hernan, B Pascual, B Mañé, MJ Gamundi, B Delás and M Carballo

    Article first published online : 15 APR 2013, DOI: 10.1111/cge.12151

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    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

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    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

  8. Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    Clinical Genetics

    Volume 86, Issue 3, September 2014, Pages: 252–257, C. Fallerini, L. Dosa, R. Tita, D. Del Prete, S. Feriozzi, G. Gai, M. Clementi, A. La Manna, N. Miglietti, R. Mancini, G. Mandrile, G.M. Ghiggeri, G. Piaggio, F. Brancati, L. Diano, E. Frate, A.R. Pinciaroli, M. Giani, P. Castorina, E. Bresin, D. Giachino, M. De Marchi, F. Mari, M. Bruttini, A. Renieri and F. Ariani

    Article first published online : 17 OCT 2013, DOI: 10.1111/cge.12258

  9. The psychological impact of breast and ovarian cancer preventive options in BRCA1 and BRCA2 mutation carriers

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 7–15, C Borreani, S Manoukian, E Bianchi, C Brunelli, B Peissel, A Caruso, G Morasso and MA Pierotti

    Article first published online : 5 NOV 2013, DOI: 10.1111/cge.12298

  10. Aging in Rett syndrome: a longitudinal study

    Clinical Genetics

    Volume 84, Issue 3, September 2013, Pages: 223–229, NSJ Halbach, EEJ Smeets, C Steinbusch, MA Maaskant, D van Waardenburg and LMG Curfs

    Article first published online : 7 DEC 2012, DOI: 10.1111/cge.12063

  11. 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

  12. The uptake and outcome of prenatal and pre-implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008)

    Clinical Genetics

    Volume 85, Issue 1, January 2014, Pages: 87–95, MC van Rij, PAM de Koning Gans, MJ van Belzen, RAC Roos, JPM Geraedts, M De Rademaeker, EK Bijlsma and CEM de Die-Smulders

    Article first published online : 21 MAR 2013, DOI: 10.1111/cge.12089

  13. Hearing loss in Waardenburg syndrome: a systematic review

    Clinical Genetics

    J. Song, Y. Feng, F.R. Acke, P. Coucke, K. Vleminckx and I.J. Dhooge

    Article first published online : 17 JUL 2015, DOI: 10.1111/cge.12631

  14. X-chromosome inactivation in female patients with Fabry disease

    Clinical Genetics

    L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online : 22 JUN 2015, DOI: 10.1111/cge.12613

  15. Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

    Clinical Genetics

    A.M. McInerney-Leo, J.E. Harris, P.J. Leo, M.S. Marshall, B. Gardiner, E. Kinning, H.Y. Leong, F. McKenzie, W.P. Ong, J. Vodopiutz, C. Wicking, M.A. Brown, A. Zankl and E.L. Duncan

    Article first published online : 17 FEB 2015, DOI: 10.1111/cge.12550

  16. Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families

    Clinical Genetics

    M.J. Nabais Sá, H. Storey, F. Flinter, M. Nagel, S. Sampaio, R. Castro, J.A. Araújo, M.A. Gaspar, C. Soares, A. Oliveira, A.C. Henriques, A.G. da Costa, C.P. Abreu, P. Ponce, R. Alves, L. Pinho, S.E. Silva, C.P. de Moura, L. Mendonça, F. Carvalho, M. Pestana, S. Alves, F. Carvalho and J.P. Oliveira

    Article first published online : 10 NOV 2014, DOI: 10.1111/cge.12521

  17. (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome: a paradigm for genomic medicine

    Clinical Genetics

    A. Mussa, S. Russo, L. Larizza, A. Riccio and G.B. Ferrero

    Article first published online : 30 JUL 2015, DOI: 10.1111/cge.12635

  18. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

    Clinical Genetics

    A.M. Slavotinek, S.T. Garcia, G. Chandratillake, T. Bardakjian, E. Ullah, D. Wu, K. Umeda, R. Lao, P.L.-F. Tang, E. Wan, L. Madireddy, S. Lyalina, B.A. Mendelsohn, S. Dugan, J. Tirch, R. Tischler, J. Harris, M.J. Clark, S. Chervitz, A. Patwardhan, J.M. West, P. Ursell, A. de Alba Campomanes, A. Schneider, P.-y. Kwok, S. Baranzini and R.O. Chen

    Article first published online : 6 JAN 2015, DOI: 10.1111/cge.12543

  19. Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

    Clinical Genetics

    T. Vinther-Jensen, T.T. Nielsen, E. Budtz-Jørgensen, I.U. Larsen, M.M. Hansen, L. Hasholt, L.E. Hjermind, J.E. Nielsen and A. Nørremølle

    Article first published online : 17 JUL 2015, DOI: 10.1111/cge.12628

  20. Diagnostic algorithms in Charcot–Marie–Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients

    Clinical Genetics

    S. Rudnik-Schöneborn, D. Tölle, J. Senderek, K. Eggermann, M. Elbracht, U. Kornak, M. von der Hagen, J. Kirschner, B. Leube, W. Müller-Felber, U. Schara, K. von Au, D. Wieczorek, C. Bußmann and K. Zerres

    Article first published online : 29 APR 2015, DOI: 10.1111/cge.12594