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Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
van Dijk MJ, van Oirschot BA, Stam-Slob MC, Waanders E, van der Zwaag B, van Beers EJ, Jans JJM, van der Linden PW, Torregrosa Diaz JM, Gardie B, Girodon F, Schots R, Thielen N, van Wijk R. van Dijk MJ, et al. Among authors: van oirschot ba, van der linden pw, van wijk r, van der zwaag b, van beers ej. Br J Haematol. 2023 Jan;200(2):249-255. doi: 10.1111/bjh.18485. Epub 2022 Sep 30. Br J Haematol. 2023. PMID: 36177683 Free PMC article. Review.
Taxol(®)-induced phosphatidylserine exposure and microvesicle formation in red blood cells is mediated by its vehicle Cremophor(®) EL.
Vader P, Fens MH, Sachini N, van Oirschot BA, Andringa G, Egberts AC, Gaillard CA, Rasmussen JT, van Wijk R, van Solinge WW, Schiffelers RM. Vader P, et al. Among authors: van oirschot ba, van wijk r, van solinge ww. Nanomedicine (Lond). 2013 Jul;8(7):1127-35. doi: 10.2217/nnm.12.163. Epub 2013 Feb 5. Nanomedicine (Lond). 2013. PMID: 23384701
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Among authors: van wijk r. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW. Heijnen HF, et al. Among authors: van oirschot ba, van wijk r, van dooren r, van solinge w. PLoS Genet. 2014 May 29;10(5):e1004371. doi: 10.1371/journal.pgen.1004371. eCollection 2014. PLoS Genet. 2014. PMID: 24875531 Free PMC article.
Solving a cold case of haemolysis: back to the basics.
Bijleveld R, de Kok J, van der Zwaag B, van Wijk R, Diekman T. Bijleveld R, et al. Among authors: van wijk r, van der zwaag b. Neth J Med. 2015 Feb;73(2):86-9. Neth J Med. 2015. PMID: 25753074 Free article.
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M, van der Zalm MM, van Oirschot BA, Lee FS, Giles RH, Kruip MJ, Gitz-Francois JJ, Van Solinge WW, Bierings M, van Wijk R. Bartels M, et al. Among authors: van der zalm mm, van oirschot ba, van wijk r, van solinge ww. Hum Mutat. 2015 Nov;36(11):1039-42. doi: 10.1002/humu.22846. Epub 2015 Aug 17. Hum Mutat. 2015. PMID: 26224408
599 results