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Towards the targeted management of Chediak-Higashi syndrome.
Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V. Lozano ML, et al. Among authors: sanchez guiu i. Orphanet J Rare Dis. 2014 Aug 18;9:132. doi: 10.1186/s13023-014-0132-6. Orphanet J Rare Dis. 2014. PMID: 25129365 Free PMC article. Review.
Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia.
Cid AR, Montesinos P, Sánchez-Guiu I, Haya S, Lorenzo JI, Sanz J, Moscardo F, Puig N, Planelles D, Bonanad S, Sanz GF, Vicente V, González-Manchón C, Lozano ML, Rivera J, Sanz MA. Cid AR, et al. Among authors: sanchez guiu i. Clin Case Rep. 2017 Oct 5;5(11):1887-1890. doi: 10.1002/ccr3.1206. eCollection 2017 Nov. Clin Case Rep. 2017. PMID: 29152293 Free PMC article.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group. Johnson B, et al. Among authors: sanchez guiu i. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Lowe GC, Sánchez Guiu I, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP, Morgan NV; UK GAPP collaborative. Lowe GC, et al. Among authors: sanchez guiu i. Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31. Thromb Haemost. 2013. PMID: 23364359 Free PMC article.
Combination of phenotype and polygenic risk score in breast cancer risk evaluation in the Spanish population: a case -control study.
Triviño JC, Ceba A, Rubio-Solsona E, Serra D, Sanchez-Guiu I, Ribas G, Rosa R, Cabo M, Bernad L, Pita G, Gonzalez-Neira A, Legarda G, Diaz JL, García-Vigara A, Martínez-Aspas A, Escrig M, Bermejo B, Eroles P, Ibáñez J, Salas D, Julve A, Cano A, Lluch A, Miñambres R, Benitez J. Triviño JC, et al. Among authors: sanchez guiu i. BMC Cancer. 2020 Nov 10;20(1):1079. doi: 10.1186/s12885-020-07584-9. BMC Cancer. 2020. PMID: 33167914 Free PMC article.