González S - Search Results

1

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Vargas-Parra G, et al. Among authors: gonzalez s. Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906215

2

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis.

Alazzouzi H, Domingo E, González S, Blanco I, Armengol M, Espín E, Plaja A, Schwartz S, Capella G, Schwartz S Jr. Alazzouzi H, et al. Among authors: gonzalez s. Hum Mol Genet. 2005 Jan 15;14(2):235-9. doi: 10.1093/hmg/ddi021. Epub 2004 Nov 24. Hum Mol Genet. 2005. PMID: 15563510

3

Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands.

González S, Blanco I, Campos O, Julià M, Reyes J, Llompart A, Cabeza E, Germà JR, Obrador A, Capellá G. González S, et al. Cancer Genet Cytogenet. 2005 Apr 1;158(1):70-4. doi: 10.1016/j.cancergencyto.2004.07.003. Cancer Genet Cytogenet. 2005. PMID: 15771908

4

Functional characterization of the novel APC N1026S variant associated with attenuated familial adenomatous polyposis.

Menéndez M, González S, Obrador-Hevia A, Domínguez A, Pujol MJ, Valls J, Canela N, Blanco I, Torres A, Pineda-Lucena A, Moreno V, Bachs O, Capellá G. Menéndez M, et al. Among authors: gonzalez s. Gastroenterology. 2008 Jan;134(1):56-64. doi: 10.1053/j.gastro.2007.10.009. Epub 2007 Oct 10. Gastroenterology. 2008. PMID: 18166348

5

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. Pineda M, et al. Among authors: gonzalez s. Genes Chromosomes Cancer. 2008 Apr;47(4):326-32. doi: 10.1002/gcc.20536. Genes Chromosomes Cancer. 2008. PMID: 18181177

6

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. Castellsagué E, et al. Among authors: gonzalez s. Clin Chem. 2008 Jul;54(7):1132-40. doi: 10.1373/clinchem.2007.101006. Epub 2008 May 16. Clin Chem. 2008. PMID: 18487285

7

Detection of genetic alterations in hereditary colorectal cancer screening.

Pineda M, González S, Lázaro C, Blanco I, Capellá G. Pineda M, et al. Among authors: gonzalez s. Mutat Res. 2010 Nov 10;693(1-2):19-31. doi: 10.1016/j.mrfmmm.2009.11.002. Epub 2009 Nov 27. Mutat Res. 2010. PMID: 19931546 Review.

8

Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.

Menéndez M, Castellví-Bel S, Pineda M, de Cid R, Muñoz J, González S, Teulé A, Balaguer F, Ramón y Cajal T, Reñé JM, Blanco I, Castells A, Capellà G. Menéndez M, et al. Among authors: gonzalez s. Clin Genet. 2010 Aug;78(2):186-90. doi: 10.1111/j.1399-0004.2009.01346.x. Epub 2010 Jan 20. Clin Genet. 2010. PMID: 20095990

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. Castellsagué E, et al. Among authors: gonzalez s. Gastroenterology. 2010 Aug;139(2):439-47, 447.e1. doi: 10.1053/j.gastro.2010.04.047. Epub 2010 Apr 29. Gastroenterology. 2010. PMID: 20434453 Free PMC article.

10

MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G. Borràs E, et al. Among authors: gonzalez s. Cancer Res. 2010 Oct 1;70(19):7379-91. doi: 10.1158/0008-5472.CAN-10-0570. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858721 Free article.

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