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93 results

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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. Among authors: vaccaro ca. Fam Cancer. 2020 Oct;19(4):323-336. doi: 10.1007/s10689-020-00182-5. Fam Cancer. 2020. PMID: 32363481
Germ line mutations of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients with small bowel cancer: International Society for Gastrointestinal Hereditary Tumours Collaborative Study.
Park JG, Kim DW, Hong CW, Nam BH, Shin YK, Hong SH, Kim IJ, Lim SB, Aronson M, Bisgaard ML, Brown GJ, Burn J, Chow E, Conrad P, Douglas F, Dunlop M, Ford J, Greenblatt MS, Heikki J, Heinimann K, Lynch EL, Macrae F, McKinnon WC, Möeslein G, Rossi BM, Rozen P, Schofield L, Vaccaro C, Vasen H, Velthuizen M, Viel A, Wijnen J; International Society for Gastrointestinal Hereditary Tumours. Park JG, et al. Clin Cancer Res. 2006 Jun 1;12(11 Pt 1):3389-93. doi: 10.1158/1078-0432.CCR-05-2452. Clin Cancer Res. 2006. PMID: 16740762
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M, Nilbert M, Wernhoff P, López-Köstner F, Vaccaro C, Sarroca C, Palmero EI, Giraldo A, Ashton-Prolla P, Alvarez K, Ferro A, Neffa F, Caris J, Carraro DM, Rossi BM. Dominguez-Valentin M, et al. Hered Cancer Clin Pract. 2013 Dec 18;11(1):18. doi: 10.1186/1897-4287-11-18. Hered Cancer Clin Pract. 2013. PMID: 24344984 Free PMC article.
Lynch syndrome in South America: past, present and future.
Vaccaro CA, Sarroca C, Rossi B, Lopez-Kostner F, Dominguez M, Calo NC, Cutait R, Valle AD, Nuñez L, Neffa F, Alvarez K, Gonzalez ML, Kalfayan P, Lynch HT, Church J. Vaccaro CA, et al. Fam Cancer. 2016 Jul;15(3):437-45. doi: 10.1007/s10689-016-9903-7. Fam Cancer. 2016. PMID: 27007491
The Development of the Study of Hereditary Cancer in South America.
Rossi BM, Sarroca C, Vaccaro C, Lopez F, Ashton-Prolla P, Ferreira Fde O, Santos EM. Rossi BM, et al. Genet Mol Biol. 2016 May 24;39(2):166-7. doi: 10.1590/1678-4685-GMB-2014-0366. Genet Mol Biol. 2016. PMID: 27223489 Free PMC article. No abstract available.
[Founder mutation in Lynch syndrome].
Cajal AR, Piñero TA, Verzura A, Santino JP, Solano AR, Kalfayan PG, Ferro A, Vaccaro C. Cajal AR, et al. Medicina (B Aires). 2016;76(3):180-2. Medicina (B Aires). 2016. PMID: 27295708 Free article. Spanish.
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.
Dominguez-Valentin M, Wernhoff P, Cajal AR, Kalfayan PG, Piñero TA, Gonzalez ML, Ferro A, Sammartino I, Causada Calo NS, Vaccaro CA. Dominguez-Valentin M, et al. Among authors: vaccaro ca. Front Oncol. 2016 Aug 24;6:189. doi: 10.3389/fonc.2016.00189. eCollection 2016. Front Oncol. 2016. PMID: 27606285 Free PMC article. No abstract available.
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: vaccaro ca. BMC Cancer. 2017 Sep 5;17(1):623. doi: 10.1186/s12885-017-3599-4. BMC Cancer. 2017. PMID: 28874130 Free PMC article.
93 results