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Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR. Bastida JM, et al. Among authors: van der reijden ba. Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5. Haematologica. 2018. PMID: 28983057 Free PMC article.
A dominant-negative GFI1B mutation in the gray platelet syndrome.
Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA. Monteferrario D, et al. Among authors: van der reijden ba, van laer l, van heerde w, van camp g. N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10. N Engl J Med. 2014. PMID: 24325358 Free article.
Platelet CD34 expression and α/δ-granule abnormalities in GFI1B- and RUNX1-related familial bleeding disorders.
Marneth AE, van Heerde WL, Hebeda KM, Laros-van Gorkom BA, Barteling W, Willemsen B, de Graaf AO, Simons A, Jansen JH, Preijers F, Jongmans MC, van der Reijden BA. Marneth AE, et al. Among authors: van der reijden ba, van heerde wl. Blood. 2017 Mar 23;129(12):1733-1736. doi: 10.1182/blood-2016-11-749366. Epub 2017 Jan 17. Blood. 2017. PMID: 28096094 Free article. No abstract available.
GFI1 is required for RUNX1/ETO positive acute myeloid leukemia.
Marneth AE, Botezatu L, Hönes JM, Israël JCL, Schütte J, Vassen L, Lams RF, Bergevoet SM, Groothuis L, Mandoli A, Martens JHA, Huls G, Jansen JH, Dührsen U, Berg T, Möröy T, Wichmann C, Lo MC, Zhang DE, van der Reijden BA, Khandanpour C. Marneth AE, et al. Among authors: van der reijden ba. Haematologica. 2018 Sep;103(9):e395-e399. doi: 10.3324/haematol.2017.180844. Epub 2018 Apr 19. Haematologica. 2018. PMID: 29674496 Free PMC article. No abstract available.
Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.
van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL; NIHR BioResource Collaborative Group; Downes K, Freson K, van der Reijden BA. van Oorschot R, et al. Among authors: van der reijden ba, van bergen mgjm. Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20. Haematologica. 2019. PMID: 30573501 Free PMC article. No abstract available.
Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets.
van Oorschot R, Hansen M, Koornneef JM, Marneth AE, Bergevoet SM, van Bergen MGJM, van Alphen FPJ, van der Zwaan C, Martens JHA, Vermeulen M, Jansen PWTC, Baltissen MPA, Gorkom BAPL, Janssen H, Jansen JH, von Lindern M, Meijer AB, van den Akker E, van der Reijden BA. van Oorschot R, et al. Among authors: van der zwaan c, van den akker e, van der reijden ba, van alphen fpj, van bergen mgjm. Haematologica. 2019 Jul;104(7):1460-1472. doi: 10.3324/haematol.2018.194555. Epub 2019 Jan 17. Haematologica. 2019. PMID: 30655368 Free PMC article.
Specific proteome changes in platelets from individuals with GATA1-, GFI1B-, and RUNX1-linked bleeding disorders.
Van Bergen MGJM, Marneth AE, Hoogendijk AJ, Van Alphen FPJ, Van den Akker E, Laros-Van Gorkom BAP, Hoeks M, Simons A, De Munnik SA, Janssen JJWM, Martens JHA, Jansen JH, Meijer AB, Van der Reijden BA. Van Bergen MGJM, et al. Among authors: van den akker e, van der reijden ba, van alphen fpj. Blood. 2021 Jul 8;138(1):86-90. doi: 10.1182/blood.2020008118. Blood. 2021. PMID: 33690840 Free article.
Acquired mutations in TET2 are common in myelodysplastic syndromes.
Langemeijer SM, Kuiper RP, Berends M, Knops R, Aslanyan MG, Massop M, Stevens-Linders E, van Hoogen P, van Kessel AG, Raymakers RA, Kamping EJ, Verhoef GE, Verburgh E, Hagemeijer A, Vandenberghe P, de Witte T, van der Reijden BA, Jansen JH. Langemeijer SM, et al. Among authors: van der reijden ba, van kessel ag, van hoogen p. Nat Genet. 2009 Jul;41(7):838-42. doi: 10.1038/ng.391. Epub 2009 May 31. Nat Genet. 2009. PMID: 19483684
132 results