Freson K - Search Results

1

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: freson k. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.

2

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.

3

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

4

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

5

Mechanisms of action and targets for actual and future antiplatelet drugs.

Freson K, Thys C, Wittevrongel C, Van Geet C. Freson K, et al. Mini Rev Med Chem. 2006 Jun;6(6):719-26. doi: 10.2174/138955706777435661. Mini Rev Med Chem. 2006. PMID: 16787383 Review.

6

Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery.

Labarque V, Freson K, Thys C, Wittevrongel C, Hoylaerts MF, De Vos R, Goemans N, Van Geet C. Labarque V, et al. Among authors: freson k. Hum Mol Genet. 2008 Feb 1;17(3):357-66. doi: 10.1093/hmg/ddm312. Epub 2007 Nov 1. Hum Mol Genet. 2008. PMID: 17981813

7

Severe gastrointestinal bleeding and thrombocytopenia in a child with an anti-GATA1 autoantibody.

de Waele L, Freson K, Louwette S, Thys C, Wittevrongel C, de Vos R, Debeer A, van Geet C. de Waele L, et al. Among authors: freson k. Pediatr Res. 2010 Mar;67(3):314-9. doi: 10.1203/PDR.0b013e3181caafd2. Pediatr Res. 2010. PMID: 19924028

8

An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect.

Di Michele M, Thys C, Waelkens E, Overbergh L, D'Hertog W, Mathieu C, De Vos R, Peerlinck K, Van Geet C, Freson K. Di Michele M, et al. Among authors: freson k. J Proteomics. 2011 May 16;74(6):902-13. doi: 10.1016/j.jprot.2011.03.007. Epub 2011 Mar 23. J Proteomics. 2011. PMID: 21406263

9

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.

Izzi B, de Zegher F, Francois I, del Favero J, Goossens D, Wittevrongel C, Thys C, Van Geet C, Freson K. Izzi B, et al. Among authors: freson k. J Hum Genet. 2012 Apr;57(4):277-9. doi: 10.1038/jhg.2012.1. Epub 2012 Jan 26. J Hum Genet. 2012. PMID: 22277900

10

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C. Albers CA, et al. Among authors: freson k. Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083. Nat Genet. 2012. PMID: 22366785 Free PMC article.

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