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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Lane J, McLaren PJ, Dorrell L, Shianna KV, Stemke A, Pelak K, Moore S, Oldenburg J, Alvarez-Roman MT, Angelillo-Scherrer A, Boehlen F, Bolton-Maggs PH, Brand B, Brown D, Chiang E, Cid-Haro AR, Clotet B, Collins P, Colombo S, Dalmau J, Fogarty P, Giangrande P, Gringeri A, Iyer R, Katsarou O, Kempton C, Kuriakose P, Lin J, Makris M, Manco-Johnson M, Tsakiris DA, Martinez-Picado J, Mauser-Bunschoten E, Neff A, Oka S, Oyesiku L, Parra R, Peter-Salonen K, Powell J, Recht M, Shapiro A, Stine K, Talks K, Telenti A, Wilde J, Yee TT, Wolinsky SM, Martinson J, Hussain SK, Bream JH, Jacobson LP, Carrington M, Goedert JJ, Haynes BF, McMichael AJ, Goldstein DB, Fellay J; NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI). Lane J, et al. Hum Mol Genet. 2013 May 1;22(9):1903-10. doi: 10.1093/hmg/ddt033. Epub 2013 Jan 30. Hum Mol Genet. 2013. PMID: 23372042 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. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Molecular genetic analysis of severe protein C deficiency.
Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN. Millar DS, et al. Hum Genet. 2000 Jun;106(6):646-53. doi: 10.1007/s004390000315. Hum Genet. 2000. PMID: 10942114
Enhancing haemophilia care through registries.
Dolan G, Makris M, Bolton-Maggs PH, Rowell JA. Dolan G, et al. Haemophilia. 2014 May;20 Suppl 4:121-9. doi: 10.1111/hae.12406. Haemophilia. 2014. PMID: 24762287 Review.
FXI concentrate use and risk of thrombosis.
Bolton-Maggs P, Goudemand J, Hermans C, Makris M, de Moerloose P. Bolton-Maggs P, et al. Haemophilia. 2014 Jul;20(4):e349-51. doi: 10.1111/hae.12457. Epub 2014 May 2. Haemophilia. 2014. PMID: 24785157 No abstract available.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN).
Abshire TC, Federici AB, Alvárez MT, Bowen J, Carcao MD, Cox Gill J, Key NS, Kouides PA, Kurnik K, Lail AE, Leebeek FW, Makris M, Mannucci PM, Winikoff R, Berntorp E; VWD PN. Abshire TC, et al. Haemophilia. 2013 Jan;19(1):76-81. doi: 10.1111/j.1365-2516.2012.02916.x. Epub 2012 Jul 23. Haemophilia. 2013. PMID: 22823000 Free PMC article.
182 results