Pineda M - Search Results

1

Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.

Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G. Mur P, et al. Among authors: pineda m. Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23530899

2

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. Genes Chromosomes Cancer. 2008 Apr;47(4):326-32. doi: 10.1002/gcc.20536. Genes Chromosomes Cancer. 2008. PMID: 18181177

3

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: pineda m. 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

4

Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors.

Pineda M, González-Acosta M, Thompson BA, Sánchez R, Gómez C, Martínez-López J, Perea J, Caldés T, Rodríguez Y, Landolfi S, Balmaña J, Lázaro C, Robles L, Capellá G, Rueda D. Pineda M, et al. Clin Genet. 2015 Jun;87(6):543-8. doi: 10.1111/cge.12467. Epub 2014 Sep 16. Clin Genet. 2015. PMID: 25060679

5

Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.

Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E. Castellanos E, et al. Among authors: pineda m. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083

6

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M. Lucariello M, et al. Among authors: pineda m. Hum Genet. 2016 Dec;135(12):1343-1354. doi: 10.1007/s00439-016-1721-3. Epub 2016 Aug 19. Hum Genet. 2016. PMID: 27541642 Free PMC article.

7

Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.

Suerink M, Wimmer K, Brugieres L, Colas C, Gallon R, Ripperger T, Benusiglio PR, Bleiker EMA, Ghorbanoghli Z, Goldberg Y, Hardwick JCH, Kloor M, le Mentec M, Muleris M, Pineda M, Ruiz-Ponte C, Vasen HFA. Suerink M, et al. Among authors: pineda m. Fam Cancer. 2021 Jan;20(1):67-73. doi: 10.1007/s10689-020-00194-1. Epub 2020 Jul 2. Fam Cancer. 2021. PMID: 32613597 Free PMC article. No abstract available.

8

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S. Encarnação M, et al. Among authors: pineda m. Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x. Clin Genet. 2009. PMID: 19659762

9

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Vidal S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Among authors: pineda m. Mol Genet Genomic Med. 2019 Aug;7(8):e793. doi: 10.1002/mgg3.793. Epub 2019 Jun 17. Mol Genet Genomic Med. 2019. PMID: 31206249 Free PMC article.

10

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Among authors: pineda m. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194

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