C. Van Geet

发表

Factor VIII products and inhibitor development in severe hemophilia A.

R. Ljung, E. Santagostino, J. G. van der Bom, 2013, The New England journal of medicine.

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

Sri V. V. Deevi, W. Ouwehand, A. Attwood, 2016, Blood.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Accuracy of Pf HRP2 versus Pf-pLDH antigen detection by malaria rapid diagnostic tests in hospitalized children in a seasonal hyperendemic malaria transmission area in Burkina Faso

H. Tinto, I. Guiraud, B. Kaboré, 2014, Malaria Journal.

Novel targets for platelet inhibition.

C. Van Geet, K. Freson, C. van Geet, 2012, Handbook of experimental pharmacology.

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

J. Muyembe, J. Jacobs, J. Verhaegen, 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

E. Beutler, C. Van Geet, J. Truksa, 2010, Blood cells, molecules & diseases.

Haemostatic Effects of Recombinant Human Erythropoietin in Chronic Haemodialysis Patients

D. Hauglustaine, J. Vermylen, C. Van Geet, 1989, Thrombosis and Haemostasis.

Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura.

M. de Maeyer, H. Deckmyn, C. Van Geet, 2009, Blood.

Emerging treatments for thrombocytopenia: increasing platelet production.

C. Van Geet, K. Freson, D. Collen, 2008, Drug discovery today.

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

W. Ouwehand, Frances Burden, M. Frontini, 2018, Haematologica.

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

K. Devriendt, J. Fryns, G. Matthijs, 1997, American journal of human genetics.

Recent advances in platelet proteomics

M. Di Michele, C. Van Geet, K. Freson, 2012, Expert review of proteomics.

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

Marloes R. Tijssen, Chantal Thys, Kathleen Freson, 2017, Haematologica.

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.

J. Vermylen, G. Matthijs, M. Hoylaerts, 2002, Human molecular genetics.

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

J. Vermylen, M. Hoylaerts, R. De vos, 2008, Blood.

The EHA Research Roadmap: Platelet Disorders

H. Raslova, M. Makris, Y. Gruel, 2021, HemaSphere.

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

William J. Astle, Sylvia Richardson, Kathleen Stirrups, 2016, Blood.

Clinical management, ethics and informed consent related to multi‐gene panel‐based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH

K. Downes, P. Noris, A. Greinacher, 2020, Journal of thrombosis and haemostasis : JTH.

M. Ballmaier, P. Noris, P. Knight, 2014, Human mutation.

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

J. Jaeken, R. De vos, C. Van Geet, 2013, Human molecular genetics.

Detection Of SARS-CoV-2 Variants Of Concern In Wastewater Of Leuven, Belgium

M. Van Ranst, L. Delang, B. Aertgeerts, 2022, medRxiv.

Carbohydrate-deficient glycoprotein syndrome type II

P. de Cock, V. Ramaekers, P. Cock, 1993, Journal of Inherited Metabolic Disease.

Human platelet pathology related to defects in the G‐protein signaling cascade

C. Van Geet, K. Freson, V. Labarque, 2009, Journal of thrombosis and haemostasis : JTH.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

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

C. Van Geet, K. Freson, M. Padmakumar, 2019, Research and practice in thrombosis and haemostasis.

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

L. Lagae, A. Edefonti, F. Dobbels, 2018, European Journal of Pediatrics.

Regulators of platelet cAMP levels: clinical and therapeutic implications.

C. Van Geet, K. Freson, B. Izzi, 2010, Current medicinal chemistry.

ADP‐degrading enzymes inhibit platelet activation in bile duct‐ligated rats

F. Nevens, D. Cassiman, P. Witters, 2010, Journal of Thrombosis and Haemostasis.

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

J. Matthijnssens, M. Van Ranst, J. Jacobs, 2014, PloS one.

Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders

C. Wouters, C. Van Geet, M. Casteels-van Daele, 2000, European Journal of Pediatrics.

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

F. de Zegher, J. Jaeken, C. Van Geet, 2008, The Journal of clinical endocrinology and metabolism.

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

Sylvia Richardson, Augusto Rendon, Sjoert B. G. Jansen, 2015, Genome Medicine.

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

C. Hermans, P. Smethurst, C. Van Geet, 2009, Journal of thrombosis and haemostasis : JTH.

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

Sylvia Richardson, Kathleen Stirrups, Wendy N. Erber, 2016, Science Translational Medicine.

Combined transcriptome and proteome profiling of SRC kinase activity in healthy and E527K defective megakaryocytes

C. Van Geet, K. Eto, K. Freson, 2021, Haematologica.

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

K. Downes, K. Megy, C. Van Geet, 2019, Platelets.

Regulators of G protein signaling: role in hematopoiesis, megakaryopoiesis and platelet function

C. Van Geet, K. Freson, S. Louwette, 2012, Journal of thrombosis and haemostasis : JTH.

A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system.

D. Lambrechts, K. Devriendt, D. Vanderschueren, 2010, Clinica chimica acta; international journal of clinical chemistry.

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

M. Di Michele, C. Van Geet, K. Freson, 2013, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Urban rats as carriers of invasive Salmonella Typhimurium sequence type 313, Kisangani, Democratic Republic of Congo

F. Weill, J. Jacobs, C. Van Geet, 2022, PLoS neglected tropical diseases.

Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions

J. Vermylen, M. Hoylaerts, C. Van Geet, 2002, Human Genetics.

Activation of both coagulation and fibrinolysis in childhood hemolytic uremic syndrome.

J. Vermylen, P. Declerck, J. Arnout, 1998, Kidney international.

Methylation Defect in Imprinted Genes Detected in Patients with an Albright's Hereditary Osteodystrophy Like Phenotype and Platelet Gs Hypofunction

D. Lambrechts, K. Devriendt, F. de Zegher, 2012, PloS one.

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

B. Decallonne, A. Martin-Trujillo, D. Monk, 2016, Clinical Epigenetics.

Pseudohypoparathyroidism type Ib with disturbed imprinting in the GNAS1 cluster and Gsalpha deficiency in platelets.

J. Vermylen, M. Hoylaerts, C. Van Geet, 2002, Human molecular genetics.

Thrombopoietic effect of VPAC1 inhibition during megakaryopoiesis

M. Hoylaerts, C. Van Geet, K. Freson, 2010, British journal of haematology.

Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications

M. Hoylaerts, J. Arnout, J. Vermylen, 2001, Journal of Inherited Metabolic Disease.

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation.

J. Vermylen, F. de Zegher, M. Hoylaerts, 2003, Human molecular genetics.

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.

N. Goemans, M. Hoylaerts, R. De vos, 2008, Human molecular genetics.

Value of DNA testing in the diagnosis of sickle‐cell anemia in childhood in an environment with a high prevalence of other causes of anemia

K. Devriendt, G. Matthijs, A. Lumaka, 2022, Journal of clinical laboratory analysis.

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

R. Gijsbers, Z. Debyser, J. Metz, 2012, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

L. P. Van den Heuvel, E. Levtchenko, C. Van Geet, 2017, PloS one.

Platelet abnormalities in nephrotic syndrome

E. Levtchenko, C. Van Geet, K. Freson, 2016, Pediatric nephrology (Berlin, West).

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

J. Vermylen, L. Vanhees, R. De vos, 2005, Blood.

Treatment of children with haemophilia in Europe: a survey of 20 centres in 16 countries

M. Siimes, R. Ljung, H. Chambost, 2000, Haemophilia : the official journal of the World Federation of Hemophilia.

Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.

C Thys, M F Hoylaerts, K. Devriendt, 2001, Blood.

Thrombophilia in neonatal renal venous and arterial thrombosis

C. Van Geet, W. Proesmans, P. Wijdeven, 2005, Pediatric Nephrology.

Methylome analysis for haemophilia A intron 22 inversion patients with and without inhibitors: A pilot study

K. Peerlinck, C. Van Geet, K. Freson, 2022, Haemophilia : the official journal of the World Federation of Hemophilia.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Novel findings in the Marden-Walker syndrome.

T. Theys, C. Van Geet, Mehrnaz Didgar, 2011, Journal of pediatric surgery.

Olmsted syndrome: exploration of the immunological phenotype

D. Lambrechts, A. Liston, I. Meyts, 2013, Orphanet Journal of Rare Diseases.

Lymphangiomatosis of the body wall: a report of two cases associated with chylothorax and fatal outcome.

P. Moerman, C. Van Geet, H. Devlieger, 1997, Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association.