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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. Pena-Couso L, et al. Among authors: carbonell p. Orphanet J Rare Dis. 2022 Feb 28;17(1):85. doi: 10.1186/s13023-021-02079-7. Orphanet J Rare Dis. 2022. PMID: 35227301 Free PMC article.
Colorectal serrated adenocarcinoma shows a different profile of oncogene mutations, MSI status and DNA repair protein expression compared to conventional and sporadic MSI-H carcinomas.
García-Solano J, Conesa-Zamora P, Carbonell P, Trujillo-Santos J, Torres-Moreno D D, Pagán-Gómez I, Rodríguez-Braun E, Pérez-Guillermo M. García-Solano J, et al. Among authors: carbonell p. Int J Cancer. 2012 Oct 15;131(8):1790-9. doi: 10.1002/ijc.27454. Epub 2012 Mar 14. Int J Cancer. 2012. PMID: 22287190 Free article.
A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain.
Sabater-Molina M, Saura D, García-Molina Sáez E, González-Carrillo J, Polo L, Pérez-Sánchez I, Olmo MDC, Oliva-Sandoval MJ, Barriales-Villa R, Carbonell P, Pascual-Figal D, Gimeno JR. Sabater-Molina M, et al. Among authors: carbonell p. Rev Esp Cardiol (Engl Ed). 2017 Feb;70(2):105-114. doi: 10.1016/j.rec.2016.06.020. Epub 2016 Oct 28. Rev Esp Cardiol (Engl Ed). 2017. PMID: 28029522 English, Spanish.
FRAXE mutation analysis in three Spanish families.
Carbonell P, López I, Gabarrón J, Bernabé MJ, Lucas JM, Guitart M, Gabau E, Glover G. Carbonell P, et al. Am J Med Genet. 1996 Aug 9;64(2):434-40. doi: 10.1002/(SICI)1096-8628(19960809)64:2<434::AID-AJMG40>3.0.CO;2-D. Am J Med Genet. 1996. PMID: 8844099
Global Methylome Scores Correlate with Histological Subtypes of Colorectal Carcinoma and Show Different Associations with Common Clinical and Molecular Features.
Turpín-Sevilla MDC, Pérez-Sanz F, García-Solano J, Sebastián-León P, Trujillo-Santos J, Carbonell P, Estrada E, Tuomisto A, Herruzo I, Fennell LJ, Mäkinen MJ, Rodríguez-Braun E, Whitehall VLJ, Conesa A, Conesa-Zamora P. Turpín-Sevilla MDC, et al. Among authors: carbonell p. Cancers (Basel). 2021 Oct 14;13(20):5165. doi: 10.3390/cancers13205165. Cancers (Basel). 2021. PMID: 34680315 Free PMC article.
150 results