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Page 1
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.
van der Klift HM, Mensenkamp AR, Drost M, Bik EC, Vos YJ, Gille HJ, Redeker BE, Tiersma Y, Zonneveld JB, García EG, Letteboer TG, Olderode-Berends MJ, van Hest LP, van Os TA, Verhoef S, Wagner A, van Asperen CJ, Ten Broeke SW, Hes FJ, de Wind N, Nielsen M, Devilee P, Ligtenberg MJ, Wijnen JT, Tops CM. van der Klift HM, et al. Among authors: gille hj. Hum Mutat. 2016 Nov;37(11):1162-1179. doi: 10.1002/humu.23052. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27435373
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
Terlouw D, Suerink M, Singh SS, Gille HJJP, Hes FJ, Langers AMJ, Morreau H, Vasen HFA, Vos YJ, van Wezel T, Tops CM, Ten Broeke SW, Nielsen M. Terlouw D, et al. Among authors: gille hjjp. Eur J Hum Genet. 2020 Feb;28(2):222-230. doi: 10.1038/s41431-019-0509-z. Epub 2019 Sep 16. Eur J Hum Genet. 2020. PMID: 31527860 Free PMC article.
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
Cox DG, Simard J, Sinnett D, Hamdi Y, Soucy P, Ouimet M, Barjhoux L, Verny-Pierre C, McGuffog L, Healey S, Szabo C, Greene MH, Mai PL, Andrulis IL; Ontario Cancer Genetics Network; Thomassen M, Gerdes AM, Caligo MA, Friedman E, Laitman Y, Kaufman B, Paluch SS, Borg Å, Karlsson P, Askmalm MS, Bustinza GB; SWE-BRCA Collaborators; Nathanson KL, Domchek SM, Rebbeck TR, Benítez J, Hamann U, Rookus MA, van den Ouweland AM, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gille HJ; HEBON; EMBRACE; Peock S, Frost D, Evans DG, Eeles R, Izatt L, Adlard J, Paterson J, Eason J, Godwin AK, Remon MA, Moncoutier V, Gauthier-Villars M, Lasset C, Giraud S, Hardouin A, Berthet P, Sobol H, Eisinger F, Bressac de Paillerets B, Caron O, Delnatte C; GEMO Study Collaborators; Goldgar D, Miron A, Ozcelik H, Buys S, Southey MC, Terry MB; Breast Cancer Family Registry; Singer CF, Dressler AC, Tea MK, Hansen TV, Johannsson O, Piedmonte M, Rodriguez GC, Basil JB, Blank S, Toland AE, Montagna M, Isaacs C, Blanco I, Gayther SA, Moysich KB, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ditsch N, Arnold N, Niederacher D, Sutter C, Gadzicki D, Fiebig B, Caldes T, Laframboise R, Nevanlinna H, Chen X, Be… See abstract for full author list ➔ Cox DG, et al. Among authors: gille hj. Hum Mol Genet. 2011 Dec 1;20(23):4732-47. doi: 10.1093/hmg/ddr388. Epub 2011 Sep 2. Hum Mol Genet. 2011. PMID: 21890493 Free PMC article.
Renal imaging in 199 Dutch patients with Birt-Hogg-Dubé syndrome: Screening compliance and outcome.
Johannesma PC, van de Beek I, van der Wel TJWT, Reinhard R, Rozendaal L, Starink TM, van Waesberghe JHTM, Horenblas S, Gille HJJP, Jonker MA, Meijers-Heijboer HEJ, Postmus PE, Houweling AC, van Moorselaar JRA. Johannesma PC, et al. Among authors: gille hjjp. PLoS One. 2019 Mar 7;14(3):e0212952. doi: 10.1371/journal.pone.0212952. eCollection 2019. PLoS One. 2019. PMID: 30845233 Free PMC article.
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
van der Werf-'t Lam AS, Rodriguez-Girondo M, Villasmil M, Tops CM, van Hest L, Gille HJP, Duijkers FAM, Wagner A, Eikenboom E, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker F, Gomez Garcia EB, Dominguez-Valentin M, Møller P, Suerink M, Nielsen M. van der Werf-'t Lam AS, et al. Among authors: gille hjp. Genes Chromosomes Cancer. 2024 May;63(5):e23237. doi: 10.1002/gcc.23237. Genes Chromosomes Cancer. 2024. PMID: 38722212
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
van der Werf-'t Lam AS, Terlouw D, Tops CM, van Kan MS, van Hest LP, Gille HJP, Duijkers FAM, Wagner A, Eikenboom EL, Letteboer TGW, de Jong MM, Bajwa-Ten Broeke SW, Bleeker FE, Gomez Garcia EB, de Wind N, van Wezel JT, Morreau H, Suerink M, Nielsen M. van der Werf-'t Lam AS, et al. Among authors: gille hjp. Mod Pathol. 2023 Sep;36(9):100240. doi: 10.1016/j.modpat.2023.100240. Epub 2023 Jun 10. Mod Pathol. 2023. PMID: 37307877 Free article.
16 results