Freson K - Search Results

1

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Among authors: freson k. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.

2

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.

3

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.

4

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

5

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

6

The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure.

Freson K, De Vos R, Wittevrongel C, Thys C, Defoor J, Vanhees L, Vermylen J, Peerlinck K, Van Geet C. Freson K, et al. Blood. 2005 Oct 1;106(7):2356-62. doi: 10.1182/blood-2005-02-0723. Epub 2005 Jun 14. Blood. 2005. PMID: 15956286 Free article.

7

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.

8

What's new in using platelet research? To unravel thrombopathies and other human disorders.

Freson K, Labarque V, Thys C, Wittevrongel C, Geet CV. Freson K, et al. Eur J Pediatr. 2007 Dec;166(12):1203-10. doi: 10.1007/s00431-007-0543-7. Epub 2007 Jul 10. Eur J Pediatr. 2007. PMID: 17619901 Free PMC article. Review.

9

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

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

170 results

Search Page