1. Primary constitutional MLH1 epimutations: a focal epigenetic event. Issue 8 (16th October 2018) Authors: Dámaso, Estela; Castillejo, Adela; Arias, María del Mar; Canet-Hermida, Julia; Navarro, Matilde; del Valle, Jesús; Campos, Olga; Fernández, Anna; Marín, Fátima; Turchetti, Daniela; García-Díaz, Juan de Dios; Lázaro, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Ángel; Soto, Jose; Hitchins, Me... Journal: British journal of cancer Issue: Volume 119:Issue 8(2018) Page Start: 978 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype. Issue 2 (1st April 2014) Authors: Seguí, Nuria; Navarro, Matilde; Pineda, Marta; Köger, Nicole; Bellido, Fernando; González, Sara; Campos, Olga; Iglesias, Silvia; Valdés-Mas, Rafael; López-Doriga, Adriana; Gut, Marta; Blanco, Ignacio; Lázaro, Conxi; Capellá, Gabriel; Puente, Xose S; Plotz, Guido; Valle, Laura Journal: Gut Issue: Volume 64:Issue 2(2015) Page Start: 355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?. Issue 8 (22nd December 2018) Authors: Stradella, Agostina; del Valle, Jesús; Rofes, Paula; Feliubadaló, Lídia; Grau Garces, Èlia; Velasco, Àngela; González, Sara; Vargas, Gardenia; Izquierdo, Ángel; Campos, Olga; Tornero, Eva; Navarro, Matilde; Balmaña-Gelpi, Judith; Capellá, Gabriel; Pineda, Marta; Brunet, Joan; Lázaro, Conxi Journal: Journal of medical genetics Issue: Volume 56:Issue 8(2019) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Issue 9 (3rd June 2016) Authors: Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vo... Journal: Gut Issue: Volume 66:Issue 9(2017) Page Start: 1657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers. Issue 4 (7th September 2019) Authors: González-Acosta, Maribel; Marín, Fátima; Puliafito, Benjamin; Bonifaci, Nuria; Fernández, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Grau Garces, Elia; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-García, Pilar; Ayala, Rosa; Florkin,... Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Issue 3 (9th December 2015) Authors: Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vo... Journal: Gut Issue: Volume 66:Issue 3(2017) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes. Issue 6 (30th September 2020) Authors: Terradas, Mariona; Mur, Pilar; Belhadj, Sami; Woodward, Emma R; Burghel, George J; Munoz-Torres, Pau M; Quintana, Isabel; Navarro, Matilde; Brunet, Joan; Lazaro, Conxi; Pineda, Marta; Moreno, Victor; Capella, Gabriel; Evans, D Gareth R; Valle, Laura Journal: Gut Issue: Volume 70:Issue 6(2021) Page Start: 1139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Comprehensive analysis and ACMG‐based classification of CHEK2 variants in hereditary cancer patients. Issue 12 (14th October 2020) Authors: Vargas‐Parra, Gardenia; del Valle, Jesús; Rofes, Paula; Gausachs, Mireia; Stradella, Agostina; Moreno‐Cabrera, José M.; Velasco, Angela; Tornero, Eva; Menéndez, Mireia; Muñoz, Xavier; Iglesias, Silvia; López‐Doriga, Adriana; Azuara, Daniel; Campos, Olga; Cuesta, Raquel; Darder, Esther; de Cid, Ra... Journal: Human mutation Issue: Volume 41:Issue 12(2020) Page Start: 2128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of NTHL1‐ and MSH3‐associated polyposes. Issue 11 (29th July 2019) Authors: Terradas, Mariona; Munoz‐Torres, Pau M.; Belhadj, Sami; Aiza, Gemma; Navarro, Matilde; Brunet, Joan; Capellá, Gabriel; Valle, Laura Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 1910 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review. Issue 9 (28th July 2020) Authors: Belhadj, Sami; Terradas, Mariona; Munoz‐Torres, Pau M.; Aiza, Gemma; Navarro, Matilde; Capellá, Gabriel; Valle, Laura Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗