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2017 1
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2019 1
2020 6
2021 5
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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: pinero ta. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM, Palmero EI, López-Kostner F, Sarroca C, Vaccaro CA, Spirandelli F, Ashton-Prolla P, Rodriguez Y, de Campos Reis Galvão H, Reis RM, Escremim de Paula A, Capochin Romagnolo LG, Alvarez K, Della Valle A, Neffa F, Kalfayan PG, Spirandelli E, Chialina S, Gutiérrez Angulo M, Castro-Mujica MDC, Sanchez de Monte J, Quispe R, da Silva SD, Rossi NT, Barletta-Carrillo C, Revollo S, Taborga X, Morillas LL, Tubeuf H, Monteiro-Santos EM, Piñero TA, Dominguez-Barrera C, Wernhoff P, Martins A, Hovig E, Møller P, Dominguez-Valentin M. Rossi BM, et al. Among authors: pinero ta. BMC Cancer. 2017 Sep 5;17(1):623. doi: 10.1186/s12885-017-3599-4. BMC Cancer. 2017. PMID: 28874130 Free PMC article.
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Dominguez-Valentin M, Crosbie EJ, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Nakken S, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Ryan N, Ten Broeke SW, Jenkins MA, Sunde L, Bernstein I, Burn J, Greenblatt M, de Vos Tot Nederveen Cappel WH, Della Valle A, Lopez-Koestner F, Alvarez K, Büttner R, Görgens H, Morak M, Holzapfel S, Hüneburg R, von Knebel Doeberitz M, Loeffler M, Rahner N, Weitz J, Pylvänäinen K, Renkonen-Sinisalo L, Lepistö A, Auranen A, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Therkildsen C, Okkels H, Ketabi Z, Denton OG, Rødland EA, Vasen H, Neffa F, Esperon P, Tjandra D, Möslein G, Sampson JR, Evans DG, Seppälä TT, Møller P. Dominguez-Valentin M, et al. Among authors: pinero ta. Genet Med. 2021 Apr;23(4):705-712. doi: 10.1038/s41436-020-01029-1. Epub 2020 Dec 1. Genet Med. 2021. PMID: 33257847 Free PMC article.
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Seppälä TT, Engel C, Aretz S, Macrae F, Winship I, Capella G, Thomas H, Hovig E, Nielsen M, Sijmons RH, Bertario L, Bonanni B, Tibiletti MG, Cavestro GM, Mints M, Gluck N, Katz L, Heinimann K, Vaccaro CA, Green K, Lalloo F, Hill J, Schmiegel W, Vangala D, Perne C, Strauß HG, Tecklenburg J, Holinski-Feder E, Steinke-Lange V, Mecklin JP, Plazzer JP, Pineda M, Navarro M, Vidal JB, Kariv R, Rosner G, Piñero TA, Gonzalez ML, Kalfayan P, Sampson JR, Ryan NAJ, Evans DG, Møller P, Crosbie EJ. Dominguez-Valentin M, et al. Among authors: pinero ta. J Clin Med. 2020 Jul 18;9(7):2290. doi: 10.3390/jcm9072290. J Clin Med. 2020. PMID: 32708519 Free PMC article.
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
Piñero TA, Soukarieh O, Rolain M, Alvarez K, López-Köstner F, Torrezan GT, Carraro DM, De Oliveira Nascimento IL, Bomfim TF, Machado-Lopes TMB, Freitas JC, Toralles MB, Sandes KA, Rossi BM, Junior SA, Meira J, Dominguez-Valentin M, Møller P, Vaccaro CA, Martins A, Pavicic WH. Piñero TA, et al. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: pinero ta. Genet Med. 2020 Sep;22(9):1569. doi: 10.1038/s41436-020-0892-4. Genet Med. 2020. PMID: 32690931 Free PMC article.
11 results