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Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Savoia A, et al. Among authors: lanza f. Hum Mutat. 2014 Sep;35(9):1033-45. doi: 10.1002/humu.22607. Epub 2014 Jul 15. Hum Mutat. 2014. PMID: 24934643 Review.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders. Noris P, et al. Among authors: lanza f. Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24. Haematologica. 2014. PMID: 24763399 Free PMC article.
A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.
Proulle V, Strassel C, Perrault C, Baas MJ, Moog S, Mangin P, Nurden P, Nurden A, Adam F, Bryckaert M, Kauskot A, Li R, Lanza F. Proulle V, et al. Among authors: lanza f. Br J Haematol. 2019 Sep;186(6):e184-e187. doi: 10.1111/bjh.16068. Epub 2019 Jul 1. Br J Haematol. 2019. PMID: 31257572 Free article. No abstract available.
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M, De Thoré C, Randrianaivo-Ranjatoelina H, Baas MJ, Jacquemont ML, Dreyfus M, Lavenu-Bombled C, Li R, Gachet C, Dupuis A, Lanza F. Fiore M, et al. Among authors: lanza f. Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30. Br J Haematol. 2020. PMID: 31997307 Free PMC article. No abstract available.
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, Strahm B, Superti-Furga A, Zieger B. Bartsch I, et al. Among authors: lanza f. Thromb Haemost. 2011 Sep;106(3):475-83. doi: 10.1160/TH11-05-0305. Epub 2011 Jul 28. Thromb Haemost. 2011. PMID: 21800012
Decreased thrombotic tendency in mouse models of the Bernard-Soulier syndrome.
Strassel C, Nonne C, Eckly A, David T, Leon C, Freund M, Cazenave JP, Gachet C, Lanza F. Strassel C, et al. Among authors: lanza f. Arterioscler Thromb Vasc Biol. 2007 Jan;27(1):241-7. doi: 10.1161/01.ATV.0000251992.47053.75. Epub 2006 Nov 9. Arterioscler Thromb Vasc Biol. 2007. PMID: 17095718
680 results