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There are 4549 results for: content related to: Rates of risk-reducing surgery in Israeli BRCA1 and BRCA2 mutation carriers

  1. You have free access to this content
    Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 464–472, JO Culver, CD Brinkerhoff, J Clague, K Yang, KE Singh, SR Sand and JN Weitzel

    Article first published online : 20 FEB 2013, DOI: 10.1111/cge.12097

  2. 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

  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. 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

  5. You have free access to this content
    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

  6. 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

  7. 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

  8. 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

  9. 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

  10. Gene therapy for primary immunodeficiencies

    Clinical Genetics

    A. Fischer, S. Hacein-Bey Abina, F. Touzot and M. Cavazzana

    Article first published online : 23 MAR 2015, DOI: 10.1111/cge.12576

  11. Clinical implementation of NIPT – technical and biological challenges

    Clinical Genetics

    P. Brady, N. Brison, K. Van Den Bogaert, T. de Ravel, H. Peeters, H. Van Esch, K. Devriendt, E. Legius and J.R. Vermeesch

    Article first published online : 4 MAY 2015, DOI: 10.1111/cge.12598

  12. 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

  13. Familial clustering and genetic heterogeneity in Meniere's disease

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 245–252, T. Requena, J.M. Espinosa-Sanchez, S. Cabrera, G. Trinidad, A. Soto-Varela, S. Santos-Perez, R. Teggi, P. Perez, A. Batuecas-Caletrio, J. Fraile, I. Aran, E. Martin, J. Benitez, N. Pérez-Fernández and J.A. Lopez-Escamez

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12150

  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. 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

  16. Detecting somatic mosaicism: considerations and clinical implications

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 554–562, 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. 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

  19. 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

  20. 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