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Page 1
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V, Maric D, Garrec C, Maaziz N, Buffet A, Schmitt L, Antunes V, Airaud F, Aral B, Le Roy A, Corbineau S, Mansour-Hendili L, Lesieur V, Rimbert A, Laporte F, Delamare M, Rab M, Bézieau S, Cassinat B, Galacteros F, Gimenez-Roqueplo AP, Burnichon N, Cario H, Van Wijk R, Bento C, Girodon F, Hoogewijs D, Gardie B. Karaghiannis V, et al. Among authors: rab m. Haematologica. 2023 Jun 1;108(6):1652-1666. doi: 10.3324/haematol.2022.281698. Haematologica. 2023. PMID: 36700397 Free PMC article.
A functional spleen contributes to afucosylated IgG in humans.
Wojcik I, Schmidt DE, de Neef LA, Rab MAE, Meek B, de Weerdt O, Wuhrer M, van der Schoot CE, Zwaginga JJ, de Haas M, Falck D, Vidarsson G. Wojcik I, et al. Among authors: rab mae. Sci Rep. 2021 Dec 15;11(1):24045. doi: 10.1038/s41598-021-03196-w. Sci Rep. 2021. PMID: 34911982 Free PMC article.
Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis.
Huisjes R, Makhro A, Llaudet-Planas E, Hertz L, Petkova-Kirova P, Verhagen LP, Pignatelli S, Rab MAE, Schiffelers RM, Seiler E, van Solinge WW, Corrons JV, Kaestner L, Mañú-Pereira M, Bogdanova A, van Wijk R. Huisjes R, et al. Among authors: rab mae. Haematologica. 2020 Jan 31;105(2):338-347. doi: 10.3324/haematol.2018.188151. Print 2020. Haematologica. 2020. PMID: 31147440 Free PMC article.
AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes.
Rab MAE, Van Oirschot BA, Kosinski PA, Hixon J, Johnson K, Chubukov V, Dang L, Pasterkamp G, Van Straaten S, Van Solinge WW, Van Beers EJ, Kung C, Van Wijk R. Rab MAE, et al. Haematologica. 2021 Jan 1;106(1):238-249. doi: 10.3324/haematol.2019.238865. Haematologica. 2021. PMID: 31974203 Free PMC article.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Among authors: rab m. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.
Ukonmaanaho EM, Dell'Anna S, Hakonen A, Wartiovaara-Kautto U, Kakko S, Rab MAE, van Oirschot B, Kraatari-Tiri M, van Wijk R, Rahikkala E. Ukonmaanaho EM, et al. Among authors: rab mae. Br J Haematol. 2024 May;204(5):2040-2048. doi: 10.1111/bjh.19368. Epub 2024 Feb 28. Br J Haematol. 2024. PMID: 38415930 Review.
129 results