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There are 6151 results for: content related to: FANCA and FANCG are the major Fanconi anemia genes in the Korean population

  1. 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

  2. Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

    Clinical Genetics

    T. Mantere, M. Haanpää, H. Hanenberg, J. Schleutker, A. Kallioniemi, M. Kähkönen, K. Parto, K. Avela, K. Aittomäki, H. von Koskull, J.M. Hartikainen, V.-M. Kosma, S.-L. Laasanen, A. Mannermaa, K. Pylkäs and R. Winqvist

    Article first published online : 30 JUL 2014, DOI: 10.1111/cge.12447

  3. Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders

    Clinical Genetics

    J. Zhang, P. Barbaro, Y. Guo, A. Alodaib, J. Li, W. Gold, L. Adès, B.J. Keating, X. Xu, J. Teo, H. Hakonarson and J. Christodoulou

    Article first published online : 22 MAR 2015, DOI: 10.1111/cge.12573

  4. You have free access to this content
    The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 407–414, FSM Hilbers, MPG Vreeswijk, CJ van Asperen and P Devilee

    Article first published online : 12 SEP 2013, DOI: 10.1111/cge.12256

  5. 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

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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

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    Molecular cytogenetics: recent developments and applications in cancer

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 315–325, K Das and P Tan

    Article first published online : 6 AUG 2013, DOI: 10.1111/cge.12229

  8. 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

  9. 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

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    Opioid genetics: the key to personalized pain control?

    Clinical Genetics

    Volume 82, Issue 4, October 2012, Pages: 301–310, R Branford, J Droney and JR Ross

    Article first published online : 26 JUL 2012, DOI: 10.1111/j.1399-0004.2012.01923.x

  11. 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

  12. 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

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    Biobanks and personalized medicine

    Clinical Genetics

    Volume 86, Issue 1, July 2014, Pages: 50–55, J.E. Olson, S.J. Bielinski, E. Ryu, E.M. Winkler, P.Y. Takahashi, J. Pathak and J.R. Cerhan

    Article first published online : 27 MAR 2014, DOI: 10.1111/cge.12370

  14. 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

  15. Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome

    Clinical Genetics

    Volume 87, Issue 6, June 2015, Pages: 507–516, G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe and A. Tomasi

    Article first published online : 9 DEC 2014, DOI: 10.1111/cge.12529

  16. 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

  17. Cornelia de Lange syndrome

    Clinical Genetics

    M.I. Boyle, C. Jespersgaard, K. Brøndum-Nielsen, A.-M. Bisgaard and Z. Tümer

    Article first published online : 28 OCT 2014, DOI: 10.1111/cge.12499

  18. 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

  19. You have full text access to this OnlineOpen article
    Funding considerations for the disclosure of genetic incidental findings in biobank research

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 397–406, L Black, D Avard, MH Zawati, BM Knoppers, J Hébert, G Sauvageau and on behalf of the Leucegene Project

    Article first published online : 10 JUN 2013, DOI: 10.1111/cge.12190

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    Beckwith–Wiedemann and Silver–Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

    Clinical Genetics

    Volume 84, Issue 4, October 2013, Pages: 326–334, KJ Jacob, WP Robinson and L Lefebvre

    Article first published online : 9 APR 2013, DOI: 10.1111/cge.12143