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Items: 1 to 50 of 62

1.

A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.

Padmakumar M, Jaeken J, Ramaekers V, Lagae L, Greene D, Thys C, Van Geet C, BioResource N, Stirrups K, Downes K, Turro E, Freson K.

JIMD Rep. 2019 Mar 25;47(1):9-16. doi: 10.1002/jmd2.12030. eCollection 2019 May.

2.

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia.

Lentaigne C, Greene D, Sivapalaratnam S, Favier R, Seyres D, Thys C, Grassi L, Mangles S, Sibson K, Stubbs M, Burden F, Bordet JC, Armari-Alla C, Erber W, Farrow S, Gleadall N, Gomez K, Megy K, Papadia S, Penkett CJ, Sims MC, Stefanucci L, Stephens JC, Read RJ, Stirrups KE, Ouwehand WH, Laffan MA; NIHR BioResource, Frontini M, Freson K, Turro E.

Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782.

PMID:
31217188
3.

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.

Platelets. 2019;30(7):931-934. doi: 10.1080/09537104.2019.1628197. Epub 2019 Jun 17.

PMID:
31204551
4.

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Downes K, Megy K, Duarte D, Vries M, Gebhart J, Hofer S, Shamardina O, Deevi SVV, Stephens J, Mapeta R, Tuna S, Al Hasso N, Besser MW, Cooper N, Daugherty L, Gleadall N, Greene D, Haimel M, Martin H, Papadia S, Revel-Vilk S, Sivapalaratnam S, Symington E, Thomas W, Thys C, Tolios A, Penkett CJ; NIHR BioResource, Ouwehand WH, Abbs S, Laffan MA, Turro E, Simeoni I, Mumford AD, Henskens YMC, Pabinger I, Gomez K, Freson K.

Blood. 2019 Dec 5;134(23):2082-2091. doi: 10.1182/blood.2018891192.

PMID:
31064749
5.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

Bariana TK, Labarque V, Heremans J, Thys C, De Reys M, Greene D, Jenkins B, Grassi L, Seyres D, Burden F, Whitehorn D, Shamardina O, Papadia S, Gomez K, BioResource N, Van Geet C, Koulman A, Ouwehand WH, Ghevaert C, Frontini M, Turro E, Freson K.

Haematologica. 2019 May;104(5):1036-1045. doi: 10.3324/haematol.2018.204784. Epub 2018 Nov 22.

6.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases, Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD.

Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. No abstract available.

7.

Assessment of cross-protection induced by a bluetongue virus (BTV) serotype 8 vaccine towards other BTV serotypes in experimental conditions.

Martinelle L, Dal Pozzo F, Thys C, De Leeuw I, Van Campe W, De Clercq K, Thiry E, Saegerman C.

Vet Res. 2018 Jul 16;49(1):63. doi: 10.1186/s13567-018-0556-4.

8.

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.

Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K; National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A.

J Allergy Clin Immunol. 2018 Aug;142(2):630-646. doi: 10.1016/j.jaci.2017.11.061. Epub 2018 Jan 31.

PMID:
29391254
9.

Assessment of Lungs for Transplant Recovered from Uncontrolled Donation after Circulatory Determination of Death Donors.

Egan T, Blackwell J, Birchard K, Haithcock B, Long J, Gazda S, Casey N, Thys C.

Ann Am Thorac Soc. 2017 Sep;14(Supplement_3):S251. doi: 10.1513/AnnalsATS.201609-687MG.

10.

The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.

Wijgaerts A, Wittevrongel C, Thys C, Devos T, Peerlinck K, Tijssen MR, Van Geet C, Freson K.

Haematologica. 2017 Apr;102(4):695-706. doi: 10.3324/haematol.2016.152777. Epub 2017 Jan 12.

11.

Experimental bluetongue virus superinfection in calves previously immunized with bluetongue virus serotype 8.

Martinelle L, Dal Pozzo F, Sarradin P, Van Campe W, De Leeuw I, De Clercq K, Thys C, Thiry E, Saegerman C.

Vet Res. 2016 Jul 28;47(1):73. doi: 10.1186/s13567-016-0357-6.

12.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana TK, Westbury SK, Kelly AM, Selleslag D, Stephens JC, Papadia S, Simeoni I, Penkett CJ, Ashford S, Attwood A, Austin S, Bakchoul T, Collins P, Deevi SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.

13.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.

14.

Q Fever Serological Survey and Associated Risk Factors in Veterinarians, Southern Belgium, 2013.

Dal Pozzo F, Martinelle L, Léonard P, Renaville B, Renaville R, Thys C, Smeets F, Czaplicki G, Van Esbroeck M, Saegerman C.

Transbound Emerg Dis. 2017 Jun;64(3):959-966. doi: 10.1111/tbed.12465. Epub 2016 Jan 8.

15.

Platelet studies in autism spectrum disorder patients and first-degree relatives.

Bijl N, Thys C, Wittevrongel C, De la Marche W, Devriendt K, Peeters H, Van Geet C, Freson K.

Mol Autism. 2015 Oct 23;6:57. doi: 10.1186/s13229-015-0051-y. eCollection 2015.

16.

Single Nucleotide Polymorphism Genotyping and Distribution of Coxiella burnetii Strains from Field Samples in Belgium.

Dal Pozzo F, Renaville B, Martinelle L, Renaville R, Thys C, Smeets F, Kirschvink N, Grégoire F, Delooz L, Czaplicki G, Saegerman C.

Appl Environ Microbiol. 2015 Oct 16;82(1):81-6. doi: 10.1128/AEM.02799-15. Print 2016 Jan 1.

17.

Pulmonary artery haemorrhage in newborn calves following bluetongue virus serotype 8 experimental infections of pregnant heifers.

Martinelle L, Dal Pozzo F, Sarradin P, De Leeuw I, De Clercq K, Thys C, Thiry E, Saegerman C.

Vet Microbiol. 2013 Dec 27;167(3-4):250-9. doi: 10.1016/j.vetmic.2013.08.016. Epub 2013 Aug 28.

PMID:
24035481
18.

Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood.

Di Michele M, Goubau C, Waelkens E, Thys C, De Vos R, Overbergh L, Schyns T, Buyse G, Casaer P, Van Geet C, Freson K.

J Proteomics. 2013 Jun 28;86:53-69. doi: 10.1016/j.jprot.2013.05.005. Epub 2013 May 13.

PMID:
23681173
19.

Experimental co-infections of calves with bluetongue virus serotypes 1 and 8.

Dal Pozzo F, Martinelle L, Thys C, Sarradin P, De Leeuw I, Van Campe W, De Clercq K, Thiry E, Saegerman C.

Vet Microbiol. 2013 Jul 26;165(1-2):167-72. doi: 10.1016/j.vetmic.2013.01.016. Epub 2013 Jan 29.

20.

Development and application of a SYBR green RT-PCR for first line screening and quantification of porcine sapovirus infection.

Mauroy A, Van der Poel WH, der Honing RH, Thys C, Thiry E.

BMC Vet Res. 2012 Oct 17;8:193. doi: 10.1186/1746-6148-8-193.

21.

NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish.

Louwette S, Régal L, Wittevrongel C, Thys C, Vandeweeghde G, Decuyper E, Leemans P, De Vos R, Van Geet C, Jaeken J, Freson K.

Hum Mol Genet. 2013 Jan 1;22(1):61-73. doi: 10.1093/hmg/dds401. Epub 2012 Sep 24.

PMID:
23010472
22.

Homozygosity for aquaporin 7 G264V in three unrelated children with hyperglyceroluria and a mild platelet secretion defect.

Goubau C, Jaeken J, Levtchenko EN, Thys C, Di Michele M, Martens GA, Gerlo E, De Vos R, Buyse GM, Goemans N, Van Geet C, Freson K.

Genet Med. 2013 Jan;15(1):55-63. doi: 10.1038/gim.2012.90. Epub 2012 Aug 16.

PMID:
22899094
23.

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Izzi B, Francois I, Labarque V, Thys C, Wittevrongel C, Devriendt K, Legius E, Van den Bruel A, D'Hooghe M, Lambrechts D, de Zegher F, Van Geet C, Freson K.

PLoS One. 2012;7(6):e38579. doi: 10.1371/journal.pone.0038579. Epub 2012 Jun 5.

24.

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.

Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.

25.

Regulator of G-protein signaling 18 controls megakaryopoiesis and the cilia-mediated vertebrate mechanosensory system.

Louwette S, Labarque V, Wittevrongel C, Thys C, Metz J, Gijsbers R, Debyser Z, Arnout J, Van Geet C, Freson K.

FASEB J. 2012 May;26(5):2125-36. doi: 10.1096/fj.11-198739. Epub 2012 Feb 3.

PMID:
22308195
26.

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.

J Hum Genet. 2012 Apr;57(4):277-9. doi: 10.1038/jhg.2012.1. Epub 2012 Jan 26.

PMID:
22277900
27.

[Image of the month. Secretions secondary to a bronchoesophageal fistula].

Duysinx B, Heinen V, Frusch N, Thys C, Louis R, Corhay JL.

Rev Med Liege. 2011 Oct;66(10):511-2. French. No abstract available.

28.

Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) impairs the regulation of apoptosis in megakaryocytes by activating NF-κB: a proteomic study.

Di Michele M, Peeters K, Loyen S, Thys C, Waelkens E, Overbergh L, Hoylaerts M, Van Geet C, Freson K.

Mol Cell Proteomics. 2012 Jan;11(1):M111.007625. doi: 10.1074/mcp.M111.007625. Epub 2011 Oct 4.

29.

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.

J Proteomics. 2011 May 16;74(6):902-13. doi: 10.1016/j.jprot.2011.03.007. Epub 2011 Mar 23.

PMID:
21406263
30.

Two alternative inocula to reproduce bluetongue virus serotype 8 disease in calves.

Martinelle L, Dal Pozzo F, Sarradin P, De Leeuw I, De Clercq K, Thys C, Ziant D, Thiry E, Saegerman C.

Vaccine. 2011 Apr 27;29(19):3600-9. doi: 10.1016/j.vaccine.2011.02.055. Epub 2011 Mar 3.

PMID:
21376798
31.

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation.

Noé L, Di Michele M, Giets E, Thys C, Wittevrongel C, De Vos R, Overbergh L, Waelkens E, Jaeken J, Van Geet C, Freson K.

J Thromb Haemost. 2010 Jul;8(7):1594-603. doi: 10.1111/j.1538-7836.2010.03885.x. Epub 2010 Apr 16.

32.

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.

Pediatr Res. 2010 Mar;67(3):314-9. doi: 10.1203/PDR.0b013e3181caafd2.

PMID:
19924028
33.

Molecular detection of kobuviruses and recombinant noroviruses in cattle in continental Europe.

Mauroy A, Scipioni A, Mathijs E, Thys C, Thiry E.

Arch Virol. 2009;154(11):1841-5. doi: 10.1007/s00705-009-0518-2. Epub 2009 Oct 9.

PMID:
19816652
34.

A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder.

Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K.

J Thromb Haemost. 2009 Aug;7(8):1356-63. doi: 10.1111/j.1538-7836.2009.03520.x. Epub 2009 Jun 22.

35.

Epidemiological study of bovine norovirus infection by RT-PCR and a VLP-based antibody ELISA.

Mauroy A, Scipioni A, Mathijs E, Saegerman C, Mast J, Bridger JC, Ziant D, Thys C, Thiry E.

Vet Microbiol. 2009 Jun 12;137(3-4):243-51. doi: 10.1016/j.vetmic.2009.01.031. Epub 2009 Jan 30.

PMID:
19232845
36.

GNAS defects identified by stimulatory G protein alpha-subunit signalling studies in platelets.

Freson K, Izzi B, Labarque V, Van Helvoirt M, Thys C, Wittevrongel C, Bex M, Bouillon R, Godefroid N, Proesmans W, de Zegher F, Jaeken J, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4851-9. doi: 10.1210/jc.2008-0883. Epub 2008 Sep 23.

PMID:
18812479
37.

Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

Freson K, Izzi B, Jaeken J, Van Helvoirt M, Thys C, Wittevrongel C, de Zegher F, Van Geet C.

J Clin Endocrinol Metab. 2008 Dec;93(12):4844-9. doi: 10.1210/jc.2008-0233. Epub 2008 Sep 16.

PMID:
18796523
38.

Noroviruses and sapoviruses in pigs in Belgium.

Mauroy A, Scipioni A, Mathijs E, Miry C, Ziant D, Thys C, Thiry E.

Arch Virol. 2008;153(10):1927-31. doi: 10.1007/s00705-008-0189-4. Epub 2008 Sep 8.

PMID:
18777158
39.

PACAP and its receptor VPAC1 regulate megakaryocyte maturation: therapeutic implications.

Freson K, Peeters K, De Vos R, Wittevrongel C, Thys C, Hoylaerts MF, Vermylen J, Van Geet C.

Blood. 2008 Feb 15;111(4):1885-93. Epub 2007 Nov 13.

PMID:
18000164
40.

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.

Hum Mol Genet. 2008 Feb 1;17(3):357-66. Epub 2007 Nov 1.

PMID:
17981813
41.

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

Freson K, Labarque V, Thys C, Wittevrongel C, Geet CV.

Eur J Pediatr. 2007 Dec;166(12):1203-10. Epub 2007 Jul 10. Review.

42.

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

Freson K, Thys C, Wittevrongel C, Van Geet C.

Mini Rev Med Chem. 2006 Jun;6(6):719-26. Review.

PMID:
16787383
43.

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.

Blood. 2005 Oct 1;106(7):2356-62. Epub 2005 Jun 14.

PMID:
15956286
44.

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.

J Clin Invest. 2004 Mar;113(6):905-12.

45.

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.

Hum Mol Genet. 2003 May 15;12(10):1121-30.

PMID:
12719376
46.

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.

Hum Genet. 2003 Jan;112(1):42-9. Epub 2002 Oct 16.

PMID:
12483298
47.

Shielding the front-strand beta 3 of the von Willebrand factor A1 domain inhibits its binding to platelet glycoprotein Ibalpha.

Bonnefoy A, Yamamoto H, Thys C, Kito M, Vermylen J, Hoylaerts MF.

Blood. 2003 Feb 15;101(4):1375-83. Epub 2002 Oct 10.

PMID:
12393553
48.

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.

Hum Mol Genet. 2002 Oct 15;11(22):2741-50.

PMID:
12374764
49.

Anti-vWf antibodies induce GPIbalpha and FcgammaRII mediated platelet aggregation only at low shear forces.

Hoylaerts MF, Viaene A, Thys C, Deckmyn H, Vermylen J.

J Thromb Thrombolysis. 2001 Dec;12(3):249-62.

PMID:
11981108
50.

The ATP-gated P2X1 ion channel acts as a positive regulator of platelet responses to collagen.

Oury C, Toth-Zsamboki E, Thys C, Tytgat J, Vermylen J, Hoylaerts MF.

Thromb Haemost. 2001 Nov;86(5):1264-71.

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