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Items: 1 to 20 of 37

1.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

PMID:
27084890
2.

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation.

Gresele P, Bury L, Falcinelli E.

Semin Thromb Hemost. 2016 Apr;42(3):292-305. doi: 10.1055/s-0035-1570078. Epub 2016 Mar 10.

PMID:
26962877
3.

First Diagnosis of Hemophilia B in a Nonagenarian.

Bury L, Nardiello P, Fierro T, Zarrilli F, Coppola A, Castaldo G, Gresele P.

J Am Geriatr Soc. 2016 Jan;64(1):230-1. doi: 10.1111/jgs.13898. No abstract available.

PMID:
26782891
4.

Over-expression of Plk4 induces centrosome amplification, loss of primary cilia and associated tissue hyperplasia in the mouse.

Coelho PA, Bury L, Shahbazi MN, Liakath-Ali K, Tate PH, Wormald S, Hindley CJ, Huch M, Archer J, Skarnes WC, Zernicka-Goetz M, Glover DM.

Open Biol. 2015 Dec;5(12):150209. doi: 10.1098/rsob.150209.

5.

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia.

Bury L, Falcinelli E, Chiasserini D, Springer TA, Italiano JE Jr, Gresele P.

Haematologica. 2016 Jan;101(1):46-56. doi: 10.3324/haematol.2015.130849. Epub 2015 Oct 9.

6.

Building a Terminal: Mechanisms of Presynaptic Development in the CNS.

Bury LA, Sabo SL.

Neuroscientist. 2015 Jul 24. pii: 1073858415596131. [Epub ahead of print] Review.

PMID:
26208860
7.

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.

Civaschi E, Klersy C, Melazzini F, Pujol-Moix N, Santoro C, Cattaneo M, Lavenu-Bombled C, Bury L, Minuz P, Nurden P, Cid AR, Cuker A, Latger-Cannard V, Favier R, Nichele I, Noris P; European Haematology Association - Scientific Working Group on Thrombocytopenias and Platelet Function Disorders.

Br J Haematol. 2015 Aug;170(4):559-63. doi: 10.1111/bjh.13458. Epub 2015 Apr 21.

PMID:
25899604
8.

αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.

Buitrago L, Rendon A, Liang Y, Simeoni I, Negri A; ThromboGenomics Consortium, Filizola M, Ouwehand WH, Coller BS.

Proc Natl Acad Sci U S A. 2015 Apr 14;112(15):E1898-907. doi: 10.1073/pnas.1422238112. Epub 2015 Mar 31.

9.

Presynaptic NMDA receptors - dynamics and distribution in developing axons in vitro and in vivo.

Gill I, Droubi S, Giovedi S, Fedder KN, Bury LA, Bosco F, Sceniak MP, Benfenati F, Sabo SL.

J Cell Sci. 2015 Feb 15;128(4):768-80. doi: 10.1242/jcs.162362. Epub 2014 Dec 19.

10.

Cyclin C is a haploinsufficient tumour suppressor.

Li N, Fassl A, Chick J, Inuzuka H, Li X, Mansour MR, Liu L, Wang H, King B, Shaik S, Gutierrez A, Ordureau A, Otto T, Kreslavsky T, Baitsch L, Bury L, Meyer CA, Ke N, Mulry KA, Kluk MJ, Roy M, Kim S, Zhang X, Geng Y, Zagozdzon A, Jenkinson S, Gale RE, Linch DC, Zhao JJ, Mullighan CG, Harper JW, Aster JC, Aifantis I, von Boehmer H, Gygi SP, Wei W, Look AT, Sicinski P.

Nat Cell Biol. 2014 Nov;16(11):1080-91. doi: 10.1038/ncb3046. Epub 2014 Oct 26.

11.

A novel congenital dysprothrombinemia leading to defective prothrombin maturation.

Bafunno V, Bury L, Tiscia GL, Fierro T, Favuzzi G, Caliandro R, Sessa F, Grandone E, Margaglione M, Gresele P.

Thromb Res. 2014 Nov;134(5):1135-41. doi: 10.1016/j.thromres.2014.08.028. Epub 2014 Sep 8.

PMID:
25242243
12.

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

Gresele P, Harrison P, Bury L, Falcinelli E, Gachet C, Hayward CP, Kenny D, Mezzano D, Mumford AD, Nugent D, Nurden AT, Orsini S, Cattaneo M.

J Thromb Haemost. 2014 Sep;12(9):1562-9. doi: 10.1111/jth.12650. Epub 2014 Jul 25.

PMID:
24976115
13.

Dynamic mechanisms of neuroligin-dependent presynaptic terminal assembly in living cortical neurons.

Bury LA, Sabo SL.

Neural Dev. 2014 May 29;9:13. doi: 10.1186/1749-8104-9-13.

14.

Possible incorrect genotyping of heterozygous factor V Leiden and Prothrombin 20210 gene mutations by the GeneXpert assay.

Marturano A, Bury L, Gresele P.

Clin Chim Acta. 2014 Aug 5;435:36-9. doi: 10.1016/j.cca.2014.04.019. Epub 2014 Apr 29.

PMID:
24785585
15.

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.

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

16.

Spindle formation in the mouse embryo requires Plk4 in the absence of centrioles.

Coelho PA, Bury L, Sharif B, Riparbelli MG, Fu J, Callaini G, Glover DM, Zernicka-Goetz M.

Dev Cell. 2013 Dec 9;27(5):586-97. doi: 10.1016/j.devcel.2013.09.029. Epub 2013 Nov 21.

17.

Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule.

Gresele P, De Rocco D, Bury L, Fierro T, Mezzasoma AM, Pecci A, Savoia A.

Thromb Haemost. 2013 Sep;110(3):618-20. doi: 10.1160/TH13-02-0175. Epub 2013 Aug 8. No abstract available.

PMID:
23925420
18.

Hidden realities: What women do when they want to terminate an unwanted pregnancy in Bolivia.

Bury L, Aliaga Bruch S, Machicao Barbery X, Garcia Pimentel F.

Int J Gynaecol Obstet. 2012 Sep;118 Suppl 1:S4-9. doi: 10.1016/j.ijgo.2012.05.003.

PMID:
22840269
19.

Outside-in signalling generated by a constitutively activated integrin αIIbβ3 impairs proplatelet formation in human megakaryocytes.

Bury L, Malara A, Gresele P, Balduini A.

PLoS One. 2012;7(4):e34449. doi: 10.1371/journal.pone.0034449. Epub 2012 Apr 23.

20.

[The specificity of the prosecution of communist crime and ability to participate in court proceedings].

Heitzman J, Ruzikowska A, Tarczyńska K, Bury L, Walczyna-Leśko A.

Psychiatr Pol. 2011 May-Jun;45(3):419-29. Polish.

PMID:
22232971
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