Search Results

There are 54865 results for: content related to: Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

  1. Epigenetic mechanisms in the pathogenesis of Lynch syndrome

    Clinical Genetics

    Volume 85, Issue 5, May 2014, Pages: 403–412, P. Peltomäki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12349

  2. You have full text access to this OnlineOpen article
    D/H ratios in basalt glasses from the Salas y Gomez mantle plume interacting with the East Pacific Rise: Water from old D-rich recycled crust or primordial water from the lower mantle?

    Geochemistry, Geophysics, Geosystems

    Volume 3, Issue 4, April 2002, Pages: 1–26, Richard H. Kingsley, Jean-Guy Schilling, Jacqueline E. Dixon, Peter Swart, Robert Poreda and Kyla Simons

    Article first published online : 13 APR 2002, DOI: 10.1029/2001GC000199

  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. You have full text access to this OnlineOpen article
    Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory

    Clinical Genetics

    D. Cragun, C. Radford, J.S. Dolinsky, M. Caldwell, E. Chao and T. Pal

    Article first published online : 20 MAR 2014, DOI: 10.1111/cge.12359

  5. You have full text access to this OnlineOpen article
    Microstructures in Hole 1274A peridotites, ODP Leg 209, Mid-Atlantic Ridge: Tracking the fate of melts percolating in peridotite as the lithosphere is intercepted

    Geochemistry, Geophysics, Geosystems

    Volume 9, Issue 3, March 2008, Guenter Suhr, Peter Kelemen and Holger Paulick

    Article first published online : 18 MAR 2008, DOI: 10.1029/2007GC001726

  6. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome

    Clinical Genetics

    S. Lohan, M. Spielmann, S.C. Doelken, R. Flöttmann, F. Muhammad, S.M. Baig, M. Wajid, W. Hülsemann, R. Habenicht, K.W. Kjaer, S.J. Patil, K.M. Girisha, H.H. Abarca-Barriga, S. Mundlos and E. Klopocki

    Article first published online : 17 FEB 2014, DOI: 10.1111/cge.12352

  7. Genetic variation at the caprine lactalbumin, alpha (LALBA) gene and its association with milk lactose concentration

    Animal Genetics

    Volume 45, Issue 4, August 2014, Pages: 612–613, Ali Zidi, Eduard Casas, Marcel Amills, Jordi Jordana, Juan Carrizosa, Baltasar Urrutia and Juan M. Serradilla

    Article first published online : 9 APR 2014, DOI: 10.1111/age.12152

  8. 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

  9. A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers

    Clinical Genetics

    R.M. Patel, S.C.S. Nagamani, D. Cuthbertson, P.M. Campeau, J.P. Krischer, J.R. Shapiro, R.D. Steiner, P.A. Smith, M.B. Bober, P.H. Byers, M. Pepin, M. Durigova, F.H. Glorieux, F. Rauch, B.H. Lee, T. Hart and V.R. Sutton

    Article first published online : 30 MAY 2014, DOI: 10.1111/cge.12409

  10. You have free access to this content
    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

  11. You have free access to this content
    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

  12. 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

  13. You have full text access to this OnlineOpen article
    WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

    Clinical Genetics

    Volume 84, Issue 2, August 2013, Pages: 150–159, R G Coussa, E A Otto, H-Y Gee, P Arthurs, H Ren, I Lopez, V Keser, Q Fu, R Faingold, A Khan, J Schwartzentruber, J Majewski, F Hildebrandt and R K Koenekoop

    Article first published online : 9 JUL 2013, DOI: 10.1111/cge.12196

  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. A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes

    Clinical Genetics

    J.M. Eggington, K.R. Bowles, K. Moyes, S. Manley, L. Esterling, S. Sizemore, E. Rosenthal, A. Theisen, J. Saam, C. Arnell, D. Pruss, J. Bennett, L.A. Burbidge, B. Roa and R.J. Wenstrup

    Article first published online : 20 DEC 2013, DOI: 10.1111/cge.12315

  16. A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 318–327, R. van Minkelen, Y. van Bever, J.N.R. Kromosoeto, C.J. Withagen-Hermans, A. Nieuwlaat, D.J.J. Halley and A.M.W. van den Ouweland

    Article first published online : 25 JUN 2013, DOI: 10.1111/cge.12187

  17. 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

  18. 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

  19. 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

  20. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

    Clinical Genetics

    I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, WT Gibson, B Röthlisberger, K Heinimann, JG Hall, CY Gregory-Evans, WW Wasserman, P Miny and JM Friedman

    Article first published online : 18 NOV 2013, DOI: 10.1111/cge.12301