Freson K - Search Results

1

Macrothrombocytopenia and stomatocytosis in sitosterolaemia.

Diallo S, Demulder A, Freson K, Ferster A, Rozen L. Diallo S, et al. Among authors: freson k. Br J Haematol. 2021 Sep;194(5):804. doi: 10.1111/bjh.17518. Epub 2021 Apr 26. Br J Haematol. 2021. PMID: 33901316 No abstract available.

2

Diagnostic value of multigene sequencing for inherited thrombocytopenia.

Freson K. Freson K. Br J Haematol. 2022 Dec;199(5):645-646. doi: 10.1111/bjh.18501. Epub 2022 Oct 17. Br J Haematol. 2022. PMID: 36245319 No abstract available.

3

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.

4

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.

5

Thrombopoietic effect of VPAC1 inhibition during megakaryopoiesis.

Peeters K, Loyen S, Van Kerckhoven S, Stoffels K, Hoylaerts MF, Van Geet C, Freson K. Peeters K, et al. Among authors: freson k. Br J Haematol. 2010 Oct;151(1):54-61. doi: 10.1111/j.1365-2141.2010.08327.x. Epub 2010 Aug 5. Br J Haematol. 2010. PMID: 20735399 Free article.

6

The contribution of platelet studies to the understanding of disease mechanisms in complex and monogenetic neurological disorders.

Goubau C, Buyse GM, Van Geet C, Freson K. Goubau C, et al. Among authors: freson k. Dev Med Child Neurol. 2014 Aug;56(8):724-31. doi: 10.1111/dmcn.12421. Epub 2014 Mar 3. Dev Med Child Neurol. 2014. PMID: 24579816 Free article. Review.

7

Update on the causes of platelet disorders and functional consequences.

Freson K, Wijgaerts A, van Geet C. Freson K, et al. Int J Lab Hematol. 2014 Jun;36(3):313-25. doi: 10.1111/ijlh.12213. Int J Lab Hematol. 2014. PMID: 24750678 Review.

8

Platelet abnormalities in nephrotic syndrome.

Eneman B, Levtchenko E, van den Heuvel B, Van Geet C, Freson K. Eneman B, et al. Among authors: freson k. Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13. Pediatr Nephrol. 2016. PMID: 26267676 Review.

9

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource; Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E. Sivapalaratnam S, et al. Among authors: freson k. Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14. Blood. 2017. PMID: 28064200 Free PMC article.

10

De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.

De Kock L, Thys C, Downes K, Duarte D, Megy K, Van Geet C, Freson K. De Kock L, et al. Among authors: freson k. Platelets. 2019;30(7):931-934. doi: 10.1080/09537104.2019.1628197. Epub 2019 Jun 17. Platelets. 2019. PMID: 31204551 Free article.

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