Search Results

There are 13511 results for: content related to: Huntington disease in 2013 – genetic choices across the life cycle

  1. Genetic regulation of vertebrate eye development

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 453–460, J.L. Zagozewski, Q. Zhang and D.D. Eisenstat

    Article first published online : 25 SEP 2014, DOI: 10.1111/cge.12493

  2. Charcot–Marie–Tooth disease and pathways to molecular based therapies

    Clinical Genetics

    Volume 86, Issue 5, November 2014, Pages: 422–431, T. Harel and J.R. Lupski

    Article first published online : 9 MAY 2014, DOI: 10.1111/cge.12393

  3. You have free access to this content
    eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 190–197, D Blain, K E Goetz, R Ayyagari and S J Tumminia

    Article first published online : 5 JUN 2013, DOI: 10.1111/cge.12193

  4. 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

  5. You have free access to this content
    Geochemical processing in a three-dimensional regional spherical shell model of mantle convection

    Geochemistry, Geophysics, Geosystems

    Volume 8, Issue 11, November 2007, Jinshui Huang and Geoffrey F. Davies

    Article first published online : 22 NOV 2007, DOI: 10.1029/2007GC001625

  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. 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

  8. Communication and technology in genetic counseling for familial cancer

    Clinical Genetics

    Volume 85, Issue 3, March 2014, Pages: 213–222, H.T. Lynch, C. Snyder, M. Stacey, B. Olson, S.K. Peterson, S. Buxbaum, T. Shaw and P.M. Lynch

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12317

  9. You have free access to this content
    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

  10. Cutaneous clues for diagnosing X-chromosomal disorders

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 328–335, M. Vreeburg, S.C.E.H. Sallevelt, A.P.A. Stegmann, M. van Geel, Y.J.H.A. Detisch, C.T.R.M. Schrander-Stumpel, M.A.M. van Steensel and D. Marcus-Soekarman

    Article first published online : 14 AUG 2013, DOI: 10.1111/cge.12162

  11. 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

  12. 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

  13. You have free access to this content
    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

  14. 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

  15. National mutation study among Danish patients with hereditary haemorrhagic telangiectasia

    Clinical Genetics

    Volume 86, Issue 2, August 2014, Pages: 123–133, P.M. Tørring, K. Brusgaard, L.B. Ousager, P.E. Andersen and A.D. Kjeldsen

    Article first published online : 3 OCT 2013, DOI: 10.1111/cge.12269

  16. Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 441–445, J.-H. Jang, K. Lee, E.-H. Cho, E.-H. Lee, J.-W. Kim and C.-S. Ki

    Article first published online : 13 JUN 2013, DOI: 10.1111/cge.12195

  17. You have free access to this content
    High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 489–495, B Risgaard, R Jabbari, L Refsgaard, AG Holst, S Haunsø, A Sadjadieh, BG Winkel, MS Olesen and J Tfelt-Hansen

    Article first published online : 11 MAR 2013, DOI: 10.1111/cge.12126

  18. You have free access to this content
    The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia

    Clinical Genetics

    Volume 84, Issue 5, November 2013, Pages: 482–488, LC Kaupert, SHV Lemos-Marini, MP De Mello, RP Moreira, VN Brito, AAL Jorge, CA Longui, G Guerra Jr, BB Mendonca and TA Bachega

    Article first published online : 8 OCT 2012, DOI: 10.1111/cge.12016

  19. 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

  20. 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