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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: rivera j. 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.
Towards the targeted management of Chediak-Higashi syndrome.
Lozano ML, Rivera J, Sánchez-Guiu I, Vicente V. Lozano ML, et al. Among authors: rivera j. 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.
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group. Fletcher SJ, et al. Among authors: rivera j. J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280575 Free PMC article. Clinical Trial.
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: rivera j. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Among authors: rivera j. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
Significant Hypo-Responsiveness to GPVI and CLEC-2 Agonists in Pre-Term and Full-Term Neonatal Platelets and following Immune Thrombocytopenia.
Hardy AT, Palma-Barqueros V, Watson SK, Malcor JD, Eble JA, Gardiner EE, Blanco JE, Guijarro-Campillo R, Delgado JL, Lozano ML, Teruel-Montoya R, Vicente V, Watson SP, Rivera J, Ferrer-Marín F. Hardy AT, et al. Among authors: rivera j. Thromb Haemost. 2018 Jun;118(6):1009-1020. doi: 10.1055/s-0038-1646924. Epub 2018 Apr 25. Thromb Haemost. 2018. PMID: 29695020 Free PMC article.
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K, Downes K, Morel-Kopp MC, Bastida JM, Brooks S, Bury L, Leinoe E, Gomez K, Morgan NV, Othman M, Ouwehand WH, Perez Botero J, Rivera J, Schulze H, Trégouët DA, Freson K. Megy K, et al. Among authors: rivera j. J Thromb Haemost. 2021 Oct;19(10):2612-2617. doi: 10.1111/jth.15459. Epub 2021 Aug 5. J Thromb Haemost. 2021. PMID: 34355501 Free PMC article.
2,280 results