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Items: 1 to 50 of 132

1.

Blood platelet research in autism spectrum disorders: In search of biomarkers.

Padmakumar M, Van Raes E, Van Geet C, Freson K.

Res Pract Thromb Haemost. 2019 Jul 16;3(4):566-577. doi: 10.1002/rth2.12239. eCollection 2019 Oct. Review.

2.

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.

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.

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.

5.

Renal Replacement Therapy in children with severe developmental disability: guiding questions for decision-making.

Willem L, Knops N, Mekahli D, Cochat P, Edefonti A, Verrina E, Groothoff J, Lagae L, Pirenne J, Dobbels F, Borry P, Van Geet C, Levtchenko E.

Eur J Pediatr. 2018 Dec;177(12):1735-1743. doi: 10.1007/s00431-018-3238-3. Epub 2018 Sep 7.

PMID:
30194525
6.

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
7.

GATA1 gene variants associated with thrombocytopenia and anemia.

Freson K, Wijgaerts A, Van Geet C.

Platelets. 2017 Nov;28(7):731-734. doi: 10.1080/09537104.2017.1361525. Epub 2017 Sep 12. Review. No abstract available.

PMID:
28895773
8.

Pituitary adenylate cyclase-activating polypeptide (PACAP) in zebrafish models of nephrotic syndrome.

Eneman B, Elmonem MA, van den Heuvel LP, Khodaparast L, Khodaparast L, van Geet C, Freson K, Levtchenko E.

PLoS One. 2017 Jul 31;12(7):e0182100. doi: 10.1371/journal.pone.0182100. eCollection 2017.

9.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium, Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD.

Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21.

10.

PIGO deficiency: palmoplantar keratoderma and novel mutations.

Morren MA, Jaeken J, Visser G, Salles I, Van Geet C; NIHR BioResource, Simeoni I, Turro E, Freson K.

Orphanet J Rare Dis. 2017 May 25;12(1):101. doi: 10.1186/s13023-017-0654-9. Review.

11.

Validation of the Child HCAHPS survey to measure pediatric inpatient experience of care in Flanders.

Bruyneel L, Coeckelberghs E, Buyse G, Casteels K, Lommers B, Vandersmissen J, Van Eldere J, Van Geet C, Vanhaecht K.

Eur J Pediatr. 2017 Jul;176(7):935-945. doi: 10.1007/s00431-017-2919-7. Epub 2017 May 24.

PMID:
28540435
12.

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.

13.

3D Multi-segment foot kinematics in children: A developmental study in typically developing boys.

Deschamps K, Staes F, Peerlinck K, Van Geet C, Hermans C, Matricali GA, Lobet S.

Gait Posture. 2017 Feb;52:40-44. doi: 10.1016/j.gaitpost.2016.11.022. Epub 2016 Nov 11.

PMID:
27866014
14.

Methylome analysis for spina bifida shows SOX18 hypomethylation as a risk factor with evidence for a complex (epi)genetic interplay to affect neural tube development.

Rochtus A, Winand R, Laenen G, Vangeel E, Izzi B, Wittevrongel C, Moreau Y, Verpoorten C, Jansen K, Van Geet C, Freson K.

Clin Epigenetics. 2016 Oct 13;8:108. eCollection 2016.

15.

Microbiological, clinical and molecular findings of non-typhoidal Salmonella bloodstream infections associated with malaria, Oriental Province, Democratic Republic of the Congo.

Falay D, Kuijpers LM, Phoba MF, De Boeck H, Lunguya O, Vakaniaki E, Bertrand S, Mattheus W, Ceyssens PJ, Vanhoof R, Devlieger H, Van Geet C, Verheyen E, Ngbonda D, Jacobs J.

BMC Infect Dis. 2016 Jun 10;16:271. doi: 10.1186/s12879-016-1604-1.

16.

Severe anaemia associated with Plasmodium falciparum infection in children: consequences for additional blood sampling for research.

Kuijpers LM, Maltha J, Guiraud I, Kaboré B, Lompo P, Devlieger H, Van Geet C, Tinto H, Jacobs J.

Malar J. 2016 Jun 2;15:304. doi: 10.1186/s12936-016-1356-9.

17.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

18.

Distribution and Function of PACAP and Its Receptors in the Healthy and Nephrotic Kidney.

Eneman B, van den Heuvel L, Freson K, Van Geet C, Willemsen B, Dijkman H, Levtchenko E.

Nephron. 2016;132(4):301-11. doi: 10.1159/000445035. Epub 2016 Apr 7.

PMID:
27050435
19.

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.

20.

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.

21.

Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.

Clin Epigenetics. 2016 Jan 26;8:10. doi: 10.1186/s13148-016-0175-8. eCollection 2016.

22.

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.

23.

Invasive Salmonella Infections at Multiple Surveillance Sites in the Democratic Republic of the Congo, 2011-2014.

Kalonji LM, Post A, Phoba MF, Falay D, Ngbonda D, Muyembe JJ, Bertrand S, Ceyssens PJ, Mattheus W, Verhaegen J, Barbé B, Kuijpers L, Van Geet C, Lunguya O, Jacobs J.

Clin Infect Dis. 2015 Nov 1;61 Suppl 4:S346-53. doi: 10.1093/cid/civ713.

PMID:
26449951
24.

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?

Rochtus A, Jansen K, Van Geet C, Freson K.

Mini Rev Med Chem. 2015;15(13):1095-102. Review.

PMID:
26349489
25.

Platelet abnormalities in nephrotic syndrome.

Eneman B, Levtchenko E, van den Heuvel B, Van Geet C, Freson K.

Pediatr Nephrol. 2016 Aug;31(8):1267-79. doi: 10.1007/s00467-015-3173-8. Epub 2015 Aug 13. Review.

PMID:
26267676
26.

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium.

Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.

27.

Staphylococcus aureus nasal carriage among healthcare workers in Kisangani, the Democratic Republic of the Congo.

De Boeck H, Vandendriessche S, Hallin M, Batoko B, Alworonga JP, Mapendo B, Van Geet C, Dauly N, Denis O, Jacobs J.

Eur J Clin Microbiol Infect Dis. 2015 Aug;34(8):1567-72. doi: 10.1007/s10096-015-2387-9. Epub 2015 May 1.

PMID:
25931131
28.

Pituitary adenylate cyclase-activating polypeptide deficiency associated with increased platelet count and aggregability in nephrotic syndrome.

Eneman B, Freson K, van den Heuvel L, van Hoyweghen E, Collard L, Vande Walle J, van Geet C, Levtchenko E.

J Thromb Haemost. 2015 May;13(5):755-67. doi: 10.1111/jth.12891. Epub 2015 Apr 13.

29.

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.

Rochtus A, Izzi B, Vangeel E, Louwette S, Wittevrongel C, Lambrechts D, Moreau Y, Winand R, Verpoorten C, Jansen K, Van Geet C, Freson K.

Epigenetics. 2015;10(1):92-101. doi: 10.1080/15592294.2014.998531. Epub 2015 Jan 29.

30.

Transcriptional diversity during lineage commitment of human blood progenitors.

Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A.

Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033.

31.

Rotavirus surveillance in Kisangani, the Democratic Republic of the Congo, reveals a high number of unusual genotypes and gene segments of animal origin in non-vaccinated symptomatic children.

Heylen E, Batoko Likele B, Zeller M, Stevens S, De Coster S, Conceição-Neto N, Van Geet C, Jacobs J, Ngbonda D, Van Ranst M, Matthijnssens J.

PLoS One. 2014 Jun 26;9(6):e100953. doi: 10.1371/journal.pone.0100953. eCollection 2014.

32.

Venous thrombosis in a child with ulcerative colitis in remission: a case report.

Gysemans W, Van Geet C, Janssens E, Alliet P.

Acta Gastroenterol Belg. 2014 Mar;77(1):71-4.

PMID:
24761694
33.

Update on the causes of platelet disorders and functional consequences.

Freson K, Wijgaerts A, van Geet C.

Int J Lab Hematol. 2014 Jun;36(3):313-25. doi: 10.1111/ijlh.12213. Review.

PMID:
24750678
34.

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.

Dev Med Child Neurol. 2014 Aug;56(8):724-31. doi: 10.1111/dmcn.12421. Epub 2014 Mar 3. Review.

35.

Frequency of severe malaria and invasive bacterial infections among children admitted to a rural hospital in Burkina Faso.

Maltha J, Guiraud I, Kaboré B, Lompo P, Ley B, Bottieau E, Van Geet C, Tinto H, Jacobs J.

PLoS One. 2014 Feb 14;9(2):e89103. doi: 10.1371/journal.pone.0089103. eCollection 2014.

36.

Accuracy of PfHRP2 versus Pf-pLDH antigen detection by malaria rapid diagnostic tests in hospitalized children in a seasonal hyperendemic malaria transmission area in Burkina Faso.

Maltha J, Guiraud I, Lompo P, Kaboré B, Gillet P, Van Geet C, Tinto H, Jacobs J.

Malar J. 2014 Jan 13;13:20. doi: 10.1186/1475-2875-13-20.

37.

Clinical practice: immune thrombocytopenia in paediatrics.

Labarque V, Van Geet C.

Eur J Pediatr. 2014 Feb;173(2):163-72. doi: 10.1007/s00431-013-2254-6. Epub 2014 Jan 5. Review.

PMID:
24390128
38.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

39.

Epidemic increase in Salmonella bloodstream infection in children, Bwamanda, the Democratic Republic of Congo.

Phoba MF, De Boeck H, Ifeka BB, Dawili J, Lunguya O, Vanhoof R, Muyembe JJ, Van Geet C, Bertrand S, Jacobs J.

Eur J Clin Microbiol Infect Dis. 2014 Jan;33(1):79-87. doi: 10.1007/s10096-013-1931-8. Epub 2013 Aug 24.

PMID:
23975545
40.

Novel GATA1 mutation in residue D218 leads to macrothrombocytopenia and clinical bleeding problems.

Hermans C, De Waele L, Van Geet C, Freson K.

Platelets. 2014;25(4):305-7. doi: 10.3109/09537104.2013.815339. Epub 2013 Aug 23. No abstract available.

PMID:
23971719
41.

Olmsted syndrome: exploration of the immunological phenotype.

Danso-Abeam D, Zhang J, Dooley J, Staats KA, Van Eyck L, Van Brussel T, Zaman S, Hauben E, Van de Velde M, Morren MA, Renard M, Van Geet C, Schaballie H, Lambrechts D, Tao J, Franckaert D, Humblet-Baron S, Meyts I, Liston A.

Orphanet J Rare Dis. 2013 May 21;8:79. doi: 10.1186/1750-1172-8-79.

42.

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
43.

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K.

Eur J Hum Genet. 2013 Dec;21(12):1349-55. doi: 10.1038/ejhg.2013.86. Epub 2013 May 1.

44.

Obsessive-compulsive behavior as presenting symptom of primary antiphospholipid syndrome.

Roie EV, Labarque V, Renard M, Van Geet C, Gabriëls L.

Psychosom Med. 2013 Apr;75(3):326-30. doi: 10.1097/PSY.0b013e31828acfbc. Epub 2013 Mar 26.

PMID:
23533283
45.

Antibiotic prescribing in DR Congo: a knowledge, attitude and practice survey among medical doctors and students.

Thriemer K, Katuala Y, Batoko B, Alworonga JP, Devlieger H, Van Geet C, Ngbonda D, Jacobs J.

PLoS One. 2013;8(2):e55495. doi: 10.1371/journal.pone.0055495. Epub 2013 Feb 18.

46.

Factor VIII products and inhibitor development in severe hemophilia A.

Gouw SC, van der Bom JG, Ljung R, Escuriola C, Cid AR, Claeyssens-Donadel S, van Geet C, Kenet G, Mäkipernaa A, Molinari AC, Muntean W, Kobelt R, Rivard G, Santagostino E, Thomas A, van den Berg HM; PedNet and RODIN Study Group.

N Engl J Med. 2013 Jan 17;368(3):231-9. doi: 10.1056/NEJMoa1208024.

47.

Multidrug-resistant Salmonella enterica, Democratic Republic of the Congo.

Phoba MF, Lunguya O, Mayimon DV, Lewo di Mputu P, Bertrand S, Vanhoof R, Verhaegen J, Van Geet C, Muyembe JJ, Jacobs J.

Emerg Infect Dis. 2012 Oct;18(10):1692-4. doi: 10.3201/eid1810.120525. No abstract available.

48.

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
49.

Recent advances in platelet proteomics.

Di Michele M, Van Geet C, Freson K.

Expert Rev Proteomics. 2012 Aug;9(4):451-66. doi: 10.1586/epr.12.31. Review.

PMID:
22967081
50.

Regulated granule trafficking in platelets and neurons: a common molecular machinery.

Goubau C, Buyse GM, Di Michele M, Van Geet C, Freson K.

Eur J Paediatr Neurol. 2013 Mar;17(2):117-25. doi: 10.1016/j.ejpn.2012.08.005. Epub 2012 Aug 28. Review.

PMID:
22951324

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