Freson K - Search Results

1

Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation.

Freson K, Matthijs G, Thys C, Mariën P, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Hum Mol Genet. 2002 Jan 15;11(2):147-52. doi: 10.1093/hmg/11.2.147. Hum Mol Genet. 2002. PMID: 11809723 Free article.

2

Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene.

Freson K, Peerlinck K, Aguirre T, Arnout J, Vermylen J, Cassiman JJ, Matthijs G. Freson K, et al. Hum Mutat. 1998;11(6):470-9. doi: 10.1002/(SICI)1098-1004(1998)11:6<470::AID-HUMU8>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9603440

3

Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A.

Peerlinck K, Jacquemin MG, Arnout J, Hoylaerts MF, Gilles JG, Lavend'homme R, Johnson KM, Freson K, Scandella D, Saint-Remy JM, Vermylen J. Peerlinck K, et al. Among authors: freson k. Blood. 1999 Apr 1;93(7):2267-73. Blood. 1999. PMID: 10090936 Free article.

4

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Blood. 2001 Jul 1;98(1):85-92. doi: 10.1182/blood.v98.1.85. Blood. 2001. PMID: 11418466 Free article.

5

Genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding.

Freson K, Hoylaerts MF, Jaeken J, Eyssen M, Arnout J, Vermylen J, Van Geet C. Freson K, et al. Thromb Haemost. 2001 Sep;86(3):733-8. Thromb Haemost. 2001. PMID: 11583302

6

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Van Geet C, Jaeken J, Freson K, Lenaerts T, Arnout J, Vermylen J, Hoylaerts MF. Van Geet C, et al. Among authors: freson k. J Inherit Metab Dis. 2001 Aug;24(4):477-92. doi: 10.1023/a:1010581613821. J Inherit Metab Dis. 2001. PMID: 11596651

7

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

Freson K, Thys C, Wittevrongel C, Proesmans W, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Hum Mol Genet. 2002 Oct 15;11(22):2741-50. doi: 10.1093/hmg/11.22.2741. Hum Mol Genet. 2002. PMID: 12374764

8

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions.

Freson K, Thys C, Wittewrongel C, Vermylen J, Hoylaerts MF, Van Geet C. Freson K, et al. Hum Genet. 2003 Jan;112(1):42-9. doi: 10.1007/s00439-002-0832-1. Epub 2002 Oct 16. Hum Genet. 2003. PMID: 12483298

9

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

Freson K, Jaeken J, Van Helvoirt M, de Zegher F, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C. Freson K, et al. Hum Mol Genet. 2003 May 15;12(10):1121-30. doi: 10.1093/hmg/ddg130. Hum Mol Genet. 2003. PMID: 12719376

10

The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation.

Freson K, Hashimoto H, Thys C, Wittevrongel C, Danloy S, Morita Y, Shintani N, Tomiyama Y, Vermylen J, Hoylaerts MF, Baba A, Van Geet C. Freson K, et al. J Clin Invest. 2004 Mar;113(6):905-12. doi: 10.1172/JCI19252. J Clin Invest. 2004. PMID: 15067323 Free PMC article.

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