Red blood cell vesiculation in hereditary hemolytic anemia

Por Alaarg, Amr, Schiffelers, Raymond M., van Solinge, Wouter W., van Wijk, Richard
Publicado em 2013

First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

Por Vives-Corrons, Joan-Lluis, Koralkova, Pavla, Grau, Josep M., Mañú Pereira, Maria del Mar, Van Wijk, Richard
Publicado em 2013

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis

Por de Vooght, Karen M.K., van Solinge, Wouter W., van Wesel, Annet C., Kersting, Sabina, van Wijk, Richard
Publicado em 2009

Erythrocytosis associated with a novel missense mutation in the HIF2A gene

Por van Wijk, Richard, Sutherland, Scott, Van Wesel, Annet C.W., Huizinga, Eric G., Percy, Melanie J., Bierings, Marc, Lee, Frank S.
Publicado em 2010

Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

Por Fermo, Elisa, Vercellati, Cristina, Marcello, Anna Paola, Zaninoni, Anna, van Wijk, Richard, Mirra, Nadia, Curcio, Cristina, Cortelezzi, Agostino, Zanella, Alberto, Barcellini, Wilma, Bianchi, Paola
Publicado no Case Rep Hematol (2017)

Successful treatment of fetal hemolytic disease due to glucose phosphate isomerase deficiency (GPI) using repeated intrauterine transfusions: a case report

Por Adama van Scheltema, Phebe N, Zhang, Ai, Ball, Lynne M, Steggerda, Sylke J, van Wijk, Richard, Fransen van de Putte, Dietje E, van Kamp, Inge L
Publicado no Clin Case Rep (2015)

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Por Camps, Carme, Petousi, Nayia, Bento, Celeste, Cario, Holger, Copley, Richard R., McMullin, Mary Frances, van Wijk, Richard, Ratcliffe, Peter J., Robbins, Peter A., Taylor, Jenny C.
Publicado no Haematologica (2016)

Red Cell Properties after Different Modes of Blood Transportation

Por Makhro, Asya, Huisjes, Rick, Verhagen, Liesbeth P., Mañú-Pereira, María del Mar, Llaudet-Planas, Esther, Petkova-Kirova, Polina, Wang, Jue, Eichler, Hermann, Bogdanova, Anna, van Wijk, Richard, Vives-Corrons, Joan-Lluís, Kaestner, Lars
Publicado no Front Physiol (2016)

Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?

Por Hertz, Laura, Huisjes, Rick, Llaudet-Planas, Esther, Petkova-Kirova, Polina, Makhro, Asya, Danielczok, Jens G., Egee, Stephane, del Mar Mañú-Pereira, Maria, van Wijk, Richard, Vives Corrons, Joan-Lluis, Bogdanova, Anna, Kaestner, Lars
Publicado no Front Physiol (2017)

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

Por Percy, Melanie J., Beer, Philip A., Campbell, Gavin, Dekker, Ad W., Green, Anthony R., Oscier, David, Rainey, M. Glenn, van Wijk, Richard, Wood, Marion, Lappin, Terence R. J., McMullin, Mary Frances, Lee, Frank S.
Publicado em 2008

A role for activated endothelial cells in red blood cell clearance: implications for vasopathology

Por Fens, Marcel H.A.M., van Wijk, Richard, Andringa, Grietje, van Rooijen, Karlijn L., Dijstelbloem, Hilde M., Rasmussen, Jan T., de Vooght, Karen M.K., Schiffelers, Raymond M., Gaillard, Carlo A.J.M., van Solinge, Wouter W.
Publicado em 2012

Hematological Parameters Improve Prediction of Mortality and Secondary Adverse Events in Coronary Angiography Patients: A Longitudinal Cohort Study

Por Gijsberts, Crystel M., den Ruijter, Hester M., de Kleijn, Dominique P.V., Huisman, Albert, ten Berg, Maarten J., van Wijk, Richard H.A., Asselbergs, Folkert W., Voskuil, Michiel, Pasterkamp, Gerard, van Solinge, Wouter W., Hoefer, Imo E.
Publicado no Medicine (Baltimore) (2015)

Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway

Por Heijnen, Harry F., van Wijk, Richard, Pereboom, Tamara C., Goos, Yvonne J., Seinen, Cor W., van Oirschot, Brigitte A., van Dooren, Rowie, Gastou, Marc, Giles, Rachel H., van Solinge, Wouter, Kuijpers, Taco W., Gazda, Hanna T., Bierings, Marc B., Da Costa, Lydie, MacInnes, Alyson W.
Publicado em 2014

Severe Ankyrin-R deficiency results in impaired surface retention and lysosomal degradation of RhAG in human erythroblasts

Por Satchwell, Timothy J., Bell, Amanda J., Hawley, Bethan R., Pellegrin, Stephanie, Mordue, Kathryn E., van Deursen, Cees Th. B. M., Braak, Nicole Heitink-ter, Huls, Gerwin, Leers, Mathie P.G, Overwater, Eline, Tamminga, Rienk Y. J., van der Zwaag, Bert, Fermo, Elisa, Bianchi, Paola, van Wijk, Richard, Toye, Ashley M.
Publicado no Haematologica (2016)

Exome Sequencing and Unrelated Findings in the Context of Complex Disease Research: Ethical and Clinical Implications

Por Lyon, Gholson J., Jiang, Tao, Van Wijk, Richard, Wang, Wei, Bodily, Paul Mark, Xing, Jinchuan, Tian, Lifeng, Robison, Reid J., Clement, Mark, Lin, Yang, Zhang, Peng, Liu, Ying, Moore, Barry, Glessner, Joseph T., Elia, Josephine, Reimherr, Fred, van Solinge, Wouter W., Yandell, Mark, Hakonarson, Hakon, Wang, Jun, Johnson, William Evan, Wei, Zhi, Wang, Kai
Publicado em 2011

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations

Por Campagna, Dean R., de Bie, Charlotte I., Schmitz-Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, van Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.
Publicado em 2013

Pathophysiology of Rare Hemolytic Anemias

Publicado em 2020