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Page 1
DNA Reference Reagents for Genotyping RH Variants.
Sippert E, Volkova E, Rippee-Brooks M, Denomme GA, Flegel WA, Lee C, Araojo R, Illoh O, Liu Z, Rios M; Collaborative Study Group. Sippert E, et al. J Mol Diagn. 2024 Jun;26(6):456-466. doi: 10.1016/j.jmoldx.2024.02.005. Epub 2024 Mar 16. J Mol Diagn. 2024. PMID: 38494079
A novel homozygous nonsense mutation in GYPB causes S-s-U-phenotype.
Costa T, Stef M, Santos LH, Medeiros AM, Monteiro C, Miyajima V, Mesquita V, Carlos LM, Brunetta DM. Costa T, et al. Among authors: stef m. Transfusion. 2023 Jun;63(6):E36-E37. doi: 10.1111/trf.17321. Epub 2023 Apr 6. Transfusion. 2023. PMID: 37021677 No abstract available.
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia.
Benito-Vicente A, Uribe KB, Larrea-Sebal A, Palacios L, Cenarro A, Calle X, Galicia-Garcia U, Jebari-Benslaiman S, Sánchez-Hernández RM, Stef M, Lambert G, Civeira F, Martín C. Benito-Vicente A, et al. Among authors: stef m. Arterioscler Thromb Vasc Biol. 2022 Jul;42(7):e203-e216. doi: 10.1161/ATVBAHA.122.315499. Epub 2022 May 5. Arterioscler Thromb Vasc Biol. 2022. PMID: 35510551
Two new RHD alleles with deletions spanning multiple exons.
Matteocci A, Monge-Ruiz J, Stef M, Apraiz I, Herrera-Del-Val L, Mancuso T, Fennell K, Lopez M, Larizgoitia-Martin Y, Nespoli G, Rubia-Tejero M, Collaretti A, Pierelli L, Ochoa-Garay G. Matteocci A, et al. Among authors: stef m. Transfusion. 2021 Mar;61(3):682-686. doi: 10.1111/trf.16199. Epub 2020 Nov 25. Transfusion. 2021. PMID: 33241598
Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
Benito-Vicente A, Uribe KB, Siddiqi H, Jebari S, Galicia-Garcia U, Larrea-Sebal A, Cenarro A, Stef M, Ostolaza H, Civeira F, Palacios L, Martin C. Benito-Vicente A, et al. Among authors: stef m. PLoS One. 2018 Oct 17;13(10):e0204771. doi: 10.1371/journal.pone.0204771. eCollection 2018. PLoS One. 2018. PMID: 30332439 Free PMC article.
30 results