Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Frans B L Hogervorst"'
Autor:
Maxime Vallée, Sean V. Tavtigian, David A. Nix, Russel Bell, Andrea Hoffman, Andrew M. Paquette, Amanda B. Spurdle, Tonya Di Sera, David E. Goldgar, Michael T. Parsons, Frans B. L. Hogervorst
Publikováno v:
Human Mutation
Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2 generates many unclassified variants (UVs). Most of these UVs are either rare missense substitutions or nucleotide substitutions near the splice junctions of the protein c
Autor:
Mara, Colombo, Irene, Lòpez-Perolio, Huong D, Meeks, Laura, Caleca, Michael T, Parsons, Hongyan, Li, Giovanna, De Vecchi, Emma, Tudini, Claudia, Foglia, Patrizia, Mondini, Siranoush, Manoukian, Raquel, Behar, Encarna B Gómez, Garcia, Alfons, Meindl, Marco, Montagna, Dieter, Niederacher, Ane Y, Schmidt, Liliana, Varesco, Barbara, Wappenschmidt, Manjeet K, Bolla, Joe, Dennis, Kyriaki, Michailidou, Qin, Wang, Kristiina, Aittomäki, Irene L, Andrulis, Hoda, Anton-Culver, Volker, Arndt, Matthias W, Beckmann, Alicia, Beeghly-Fadel, Javier, Benitez, Bram, Boeckx, Natalia V, Bogdanova, Stig E, Bojesen, Bernardo, Bonanni, Hiltrud, Brauch, Hermann, Brenner, Barbara, Burwinkel, Jenny, Chang-Claude, Don M, Conroy, Fergus J, Couch, Angela, Cox, Simon S, Cross, Kamila, Czene, Peter, Devilee, Thilo, Dörk, Mikael, Eriksson, Peter A, Fasching, Jonine, Figueroa, Olivia, Fletcher, Henrik, Flyger, Marike, Gabrielson, Montserrat, García-Closas, Graham G, Giles, Anna, González-Neira, Pascal, Guénel, Christopher A, Haiman, Per, Hall, Ute, Hamann, Mikael, Hartman, Jan, Hauke, Antoinette, Hollestelle, John L, Hopper, Anna, Jakubowska, Audrey, Jung, Veli-Matti, Kosma, Diether, Lambrechts, Loid, Le Marchand, Annika, Lindblom, Jan, Lubinski, Arto, Mannermaa, Sara, Margolin, Hui, Miao, Roger L, Milne, Susan L, Neuhausen, Heli, Nevanlinna, Janet E, Olson, Paolo, Peterlongo, Julian, Peto, Katri, Pylkäs, Elinor J, Sawyer, Marjanka K, Schmidt, Rita K, Schmutzler, Andreas, Schneeweiss, Minouk J, Schoemaker, Mee Hoong, See, Melissa C, Southey, Anthony, Swerdlow, Soo H, Teo, Amanda E, Toland, Ian, Tomlinson, Thérèse, Truong, Christi J, van Asperen, Ans M W, van den Ouweland, Lizet E, van der Kolk, Robert, Winqvist, Drakoulis, Yannoukakos, Wei, Zheng, Alison M, Dunning, Douglas F, Easton, Alex, Henderson, Frans B L, Hogervorst, Louise, Izatt, Kenneth, Offitt, Lucy E, Side, Elizabeth J, van Rensburg, Study, Embrace, Study, Hebon, Lesley, McGuffog, Antonis C, Antoniou, Georgia, Chenevix-Trench, Amanda B, Spurdle, David E, Goldgar, Miguel de la, Hoya, Paolo, Radice
Publikováno v:
Human Mutation
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms r
Autor:
Patrick Franken, Frans B. L. Hogervorst, Carli M. J. Tops, Riccardo Fodde, Frederik J. Hes, Kathleen Claes, Astrid A. Out, Marie-Pierre Buisine, Stefan Aretz, Shirley Hodgson, Julian R. Sampson, Elke Holinski-Feder, Johan T. den Dunnen, Juul T. Wijnen, Egbert J.W. Redeker, Karl Heinimann, Kristina Lagerstedt-Robinson, Ivonne J. H. M. van Minderhout, Mette Gaustadnes, Maartje Nielsen, Friedrik P. Wikman, Marjan M. Weiss, Chrystelle Colas, Florentia Fostira, Bruno Vankeirsbilck, Ans M.W. van den Ouweland, Rikke Veggerby Grønlund, Peter Devilee, Rodney J. Scott, Sylviane Olschwang, Ivo F.A.C. Fokkema
Publikováno v:
Out, A A, Tops, C M J, Nielsen, M, Weiss, M M, van Minderhout, I J H M, Fokkema, I F A C, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, P F, Gaustadnes, M, Heinimann, K, Hodgson, S V, Hogervorst, F B L, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, A M W, Redeker, E J W, Scott, R J, Vankeirsbilck, B, Grønlund, R V, Wijnen, J T, Wikman, F P, Aretz, S, Sampson, J R, Devilee, P, den Dunnen, J T & Hes, F J 2010, ' Leiden Open Variation Database of the MUTYH gene ', Human Mutation, vol. 31, no. 11, pp. 1205-15 . https://doi.org/10.1002/humu.21343
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.
The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A>G/p.
Autor:
Frans B. L. Hogervorst, Paolo Radice, Amanda B. Spurdle, Fergus J. Couch, Olga M. Sinilnikova
Publikováno v:
Human Mutation. 29:1304-1313
Sequence variants that may result in splicing alterations are a particular class of inherited variants for which consequences can be more readily assessed, using a combination of bioinformatic prediction methods, and in vitro assays. There is also a
Autor:
Sharon E, Plon, Diana M, Eccles, Douglas, Easton, William D, Foulkes, Maurizio, Genuardi, Marc S, Greenblatt, Frans B L, Hogervorst, Nicoline, Hoogerbrugge, Amanda B, Spurdle, Sean V, Tavtigian
Publikováno v:
Human Mutation, 29, 11, pp. 1282-91
Human Mutation, 29, 1282-91
Human Mutation, 29, 1282-91
Contains fulltext : 71043.pdf (Publisher’s version ) (Closed access) Genetic testing of cancer susceptibility genes is now widely applied in clinical practice to predict risk of developing cancer. In general, sequence-based testing of germline DNA
Autor:
Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren, Michèl A. A. P. Willemsen
Publikováno v:
Human mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.
Human Mutation, 33(3), 561-571. Wiley
Human Mutation, 33, 3, pp. 561-71
Verhagen, M M M, Last, J I, Hogervorst, F B L, Smeets, D F C M, Roeleveld, N, Verheijen, F, Catsman-Berrevoets, C E, Wulffraat, NM, Cobben, J M, Hiel, J, Brunt, E R, Peeters, E A J, Garcia, E B G, van der Knaap, M S, Lincke, C R, Laan, L A E M, Tijssen, M A J, van Rijn, M A, Majoor-Krakauer, D, Visser, M, van 't Veer, L J, Kleijer, W J, van de Warrenburg, B P C, Warris, A, de Groot, I J M, de Groot, R, Broeks, A, Preijers, F, Kremer, B H P H, Weemaes, C M R, Taylor, M A M R, van Deuren, M & Willemsen, M A A P 2012, ' Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ', Human Mutation, vol. 33, no. 3, pp. 561-571 . https://doi.org/10.1002/humu.22016
Human Mutation, 33, 561-71
Human Mutation, 33(3), 561-571. Wiley-Liss Inc.
Ataxia-telangiectasia (A-T) is an autosomal recessive neurodegenerative disorder with multisystem involvement and cancer predisposition, caused by mutations in the A-T mutated (ATM) gene. To study genotypephenotype correlations, we evaluated the clin
Autor:
Robert M.W. Hofstra, Inge M. Mulder, Hennie T. Brüggenwirth, Neeltje Arts, Joan N.R. Kromosoeto, Frans B. L. Hogervorst, Hanne Meijers-Heijboer, S. Verhoef, Hans J. J. P. Gille, Danielle Bodmer, Thyrsa Vriesman, Annelies M. ten Berge, Rob B. van der Luijt, Margreet G. E. M. Ausems, Ans M.W. van den Ouweland, Annemarie H. van der Hout, Maarten T. Huisman, Rumo P.M. Jansen, Patrick H.A. van Zon, Majella Boutmy-de Lange, Nicoline Hoogerbrugge, Jan C. Oosterwijk, Peter Elfferich, Marjolijn J. L. Ligtenberg, Yvonne J. Vos, Pieter van der Vlies, Dicky J. J. Halley
Publikováno v:
Human Mutation, 27(7), 654-666. Wiley
Human Mutation, 27, 7, pp. 654-66
Human Mutation, 27, 654-66
Human mutation, 27(7), 654-666. Wiley-Liss Inc.
Human Mutation, 27(7), 654-666. Wiley-Liss Inc.
Van Der Hout, A H, Van Den Ouweland, A M W, Van Der Luijt, R B, Gille, H J P, Bodmer, D, Brüggenwirth, H, Mulder, I M, Van Der Vlies, P, Elfferich, P, Huisman, M T, Ten Berge, A M, Kromosoeto, J, Jansen, R P M, Van Zon, P H A, Vriesman, T, Arts, N, Boutmy-De Lange, M, Oosterwijk, J C, Meijers-Heijboer, H, Ausems, M G E M, Hoogerbrugge, N, Verhoef, S, Halley, D J J, Vos, Y J, Hogervorst, F, Ligtenberg, M & Hofstra, R M W 2006, ' A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2 : Application in a Dutch cancer clinic setting ', Human Mutation, vol. 27, no. 7, pp. 654-666 . https://doi.org/10.1002/humu.20340
Human Mutation, 27, 7, pp. 654-66
Human Mutation, 27, 654-66
Human mutation, 27(7), 654-666. Wiley-Liss Inc.
Human Mutation, 27(7), 654-666. Wiley-Liss Inc.
Van Der Hout, A H, Van Den Ouweland, A M W, Van Der Luijt, R B, Gille, H J P, Bodmer, D, Brüggenwirth, H, Mulder, I M, Van Der Vlies, P, Elfferich, P, Huisman, M T, Ten Berge, A M, Kromosoeto, J, Jansen, R P M, Van Zon, P H A, Vriesman, T, Arts, N, Boutmy-De Lange, M, Oosterwijk, J C, Meijers-Heijboer, H, Ausems, M G E M, Hoogerbrugge, N, Verhoef, S, Halley, D J J, Vos, Y J, Hogervorst, F, Ligtenberg, M & Hofstra, R M W 2006, ' A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2 : Application in a Dutch cancer clinic setting ', Human Mutation, vol. 27, no. 7, pp. 654-666 . https://doi.org/10.1002/humu.20340
Contains fulltext : 51002.pdf (Publisher’s version ) (Closed access) Rapid and reliable identification of deleterious changes in the breast cancer genes BRCA1 and BRCA2 has become one of the major issues in most DNA services laboratories. To rapidl
Autor:
Susan McVety, Pierre Hutter, Ping Liang, William D. Foulkes, Philip H. Gordon, Lili Li, George Chong, Desirée du Sart, Rami Younan, Frans B. L. Hogervorst
Publikováno v:
Human mutation. 27(4)
A relatively high frequency of germ-line genomic rearrangements in MLH1 and MSH2 has been reported among Lynch Syndrome (HNPCC) patients from different ethnic populations. To investigate the underlying molecular mechanisms, we characterized the DNA b