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Page 1
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.
Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V. Huber C, et al. Among authors: van hest l, van hagen jm. Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29. Eur J Hum Genet. 2009. PMID: 19225462 Free PMC article.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Revencu N, et al. Among authors: van hest l, van hagen a. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free 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: van hest l. Genes Chromosomes Cancer. 2024 May;63(5):e23237. doi: 10.1002/gcc.23237. Genes Chromosomes Cancer. 2024. PMID: 38722212
MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome.
Helderman NC, Andini KD, van Leerdam ME, van Hest LP, Hoekman DR, Ahadova A, Bajwa-Ten Broeke SW, Bosse T, van der Logt EMJ, Imhann F, Kloor M, Langers AMJ, Smit VTHBM, Terlouw D, van Wezel T, Morreau H, Nielsen M. Helderman NC, et al. Among authors: van hest lp. J Mol Diagn. 2024 Feb;26(2):106-114. doi: 10.1016/j.jmoldx.2023.10.005. Epub 2023 Dec 5. J Mol Diagn. 2024. PMID: 38061582 Free article.
Recommendations on scuba diving in Birt-Hogg-Dubé syndrome.
van Riel L, van Hulst RA, van Hest L, van Moorselaar R, Boerrigter BG, Franken SM, Wolthuis R, Dubbink HJ, Marciniak SJ, Gupta N, van de Beek I, Houweling AC. van Riel L, et al. Among authors: van hest l. Expert Rev Respir Med. 2023 Jul-Dec;17(11):1003-1008. doi: 10.1080/17476348.2023.2284375. Epub 2023 Dec 26. Expert Rev Respir Med. 2023. PMID: 37991821 Free PMC article. Review.
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: van hest lp. 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.
Correction: PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubiński J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK. Giardiello D, et al. Among authors: van hest lp. Breast Cancer Res. 2022 Nov 22;24(1):82. doi: 10.1186/s13058-022-01579-z. Breast Cancer Res. 2022. PMID: 36419099 Free PMC article. No abstract available.
PredictCBC-2.0: a contralateral breast cancer risk prediction model developed and validated in ~ 200,000 patients.
Giardiello D, Hooning MJ, Hauptmann M, Keeman R, Heemskerk-Gerritsen BAM, Becher H, Blomqvist C, Bojesen SE, Bolla MK, Camp NJ, Czene K, Devilee P, Eccles DM, Fasching PA, Figueroa JD, Flyger H, García-Closas M, Haiman CA, Hamann U, Hopper JL, Jakubowska A, Leeuwen FE, Lindblom A, Lubiński J, Margolin S, Martinez ME, Nevanlinna H, Nevelsteen I, Pelders S, Pharoah PDP, Siesling S, Southey MC, van der Hout AH, van Hest LP, Chang-Claude J, Hall P, Easton DF, Steyerberg EW, Schmidt MK. Giardiello D, et al. Among authors: van hest lp. Breast Cancer Res. 2022 Oct 21;24(1):69. doi: 10.1186/s13058-022-01567-3. Breast Cancer Res. 2022. PMID: 36271417 Free PMC article.
38 results