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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.
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
Fragile X screening program in a Spanish region.
Gabarrón J, Lopez I, Glover G, Carbonell P. Gabarrón J, et al. Among authors: carbonell p. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):333-8. doi: 10.1002/ajmg.1320430151. Am J Med Genet. 1992. PMID: 1605207
Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center.
Rodríguez GJ, Balsalobre MD, Pomares F, Torregrosa NM, Ríos A, Carbonell P, Glower G, Sola J, Tébar J, Parrilla P. Rodríguez GJ, et al. Among authors: carbonell p. J Am Coll Surg. 2002 Aug;195(2):159-66. doi: 10.1016/s1072-7515(02)01220-6. J Am Coll Surg. 2002. PMID: 12168961
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
152 results