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Items: 8

1.

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux MF, Schlegel N; French MYH9 networka.

Mol Genet Genomic Med. 2014 Jul;2(4):297-312. doi: 10.1002/mgg3.68. Epub 2014 Feb 7.

2.

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.

3.

The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition.

Chen Y, Boukour S, Milloud R, Favier R, Saposnik B, Schlegel N, Nurden A, Raslova H, Vainchenker W, Balland M, Nurden P, Debili N.

J Thromb Haemost. 2013 Dec;11(12):2163-75. doi: 10.1111/jth.12436.

4.

Apparent homozygosity for p.E1841K mutation in a patient with MYH9-related disorder: a misdiagnosis for an autosomal dominant disorder?

Schlegel N, Binard S, Saposnik B.

Eur J Haematol. 2012 Apr;88(4):365-6. doi: 10.1111/j.1600-0609.2011.01746.x. No abstract available.

PMID:
22211851
5.

Elevated soluble endothelial cell protein C receptor (sEPCR) levels in women with preeclampsia: a marker of endothelial activation/damage?

Saposnik B, Peynaud-Debayle E, Stepanian A, Baron G, Simansour M, Mandelbrot L, de Prost D, Gandrille S.

Thromb Res. 2012 Feb;129(2):152-7. doi: 10.1016/j.thromres.2011.07.023. Epub 2011 Aug 6.

PMID:
21824644
6.

Alternative mRNA is favored by the A3 haplotype of the EPCR gene PROCR and generates a novel soluble form of EPCR in plasma.

Saposnik B, Lesteven E, Lokajczyk A, Esmon CT, Aiach M, Gandrille S.

Blood. 2008 Apr 1;111(7):3442-51. Epub 2007 Dec 11.

7.

A haplotype of the EPCR gene is associated with increased plasma levels of sEPCR and is a candidate risk factor for thrombosis.

Saposnik B, Reny JL, Gaussem P, Emmerich J, Aiach M, Gandrille S.

Blood. 2004 Feb 15;103(4):1311-8. Epub 2003 Oct 23.

PMID:
14576048
8.

Functional properties of the sex-hormone-binding globulin (SHBG)-like domain of the anticoagulant protein S.

Saposnik B, Borgel D, Aiach M, Gandrille S.

Eur J Biochem. 2003 Feb;270(3):545-55.

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