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Items: 11

1.

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.

Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD.

Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20.

PMID:
30362666
2.

Colorectal Adenomas.

Castellsagué E, Rivera B, Foulkes WD.

N Engl J Med. 2016 Jul 28;375(4):389. doi: 10.1056/NEJMc1604867. No abstract available.

PMID:
27464216
3.

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors.

Rivera B, Castellsagué E, Bah I, van Kempen LC, Foulkes WD.

N Engl J Med. 2015 Nov 12;373(20):1985-6. doi: 10.1056/NEJMc1506878. Erratum in: N Engl J Med. 2015 Dec 17;373(25):e33.

PMID:
26559593
4.

Lynch syndrome: five unanswered questions.

Castellsagué E, Foulkes WD.

Clin Genet. 2015 Jun;87(6):503-6. doi: 10.1111/cge.12580. Review. No abstract available.

PMID:
25737380
5.

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G, Castellsagué E, Ruini C, Percesepe A, Tomasi A.

Clin Genet. 2015 Jun;87(6):507-16. doi: 10.1111/cge.12529. Epub 2014 Dec 9. Review.

PMID:
25345868
6.

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population.

Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD.

Clin Genet. 2015 Jun;87(6):536-42. doi: 10.1111/cge.12526. Epub 2014 Nov 22.

PMID:
25318681
7.

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type.

Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD.

Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23.

PMID:
24658002
8.

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C.

Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19.

9.

Allele-specific expression of APC in adenomatous polyposis families.

Castellsagué E, González S, Guinó E, Stevens KN, Borràs E, Raymond VM, Lázaro C, Blanco I, Gruber SB, Capellá G.

Gastroenterology. 2010 Aug;139(2):439-47, 447.e1. doi: 10.1053/j.gastro.2010.04.047. Epub 2010 Apr 29.

10.

Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments.

Castellsagué E, González S, Nadal M, Campos O, Guinó E, Urioste M, Blanco I, Frebourg T, Capellá G.

Clin Chem. 2008 Jul;54(7):1132-40. doi: 10.1373/clinchem.2007.101006. Epub 2008 May 16.

11.

Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene.

Pineda M, Castellsagué E, Musulén E, Llort G, Frebourg T, Baert-Desurmont S, González S, Capellá G, Blanco I.

Genes Chromosomes Cancer. 2008 Apr;47(4):326-32. doi: 10.1002/gcc.20536.

PMID:
18181177

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