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Novel regulatory variant in ABO intronic RUNX1 binding site inducing A3 phenotype.
Thun GA, Gueuning M, Sigurdardottir S, Meyer E, Gourri E, Schneider L, Merki Y, Trost N, Neuenschwander K, Engström C, Frey BM, Meyer S, Mattle-Greminger MP. Thun GA, et al. Among authors: engstrom c. Vox Sang. 2024 Apr;119(4):377-382. doi: 10.1111/vox.13580. Epub 2024 Jan 16. Vox Sang. 2024. PMID: 38226545
Low-Frequency Blood Group Antigens in Switzerland.
Gassner C, Degenhardt F, Meyer S, Vollmert C, Trost N, Neuenschwander K, Merki Y, Portmann C, Sigurdardottir S, Zorbas A, Engström C, Gottschalk J, Amar El Dusouqui S, Waldvogel-Abramovski S, Rigal E, Tissot JD, Tinguely C, Mauvais SM, Sarraj A, Bessero D, Stalder M, Infanti L, Buser A, Sigle J, Weingand T, Castelli D, Braisch MC, Thierbach J, Heer S, Schulzki T, Krawczak M, Franke A, Frey BM. Gassner C, et al. Among authors: engstrom c. Transfus Med Hemother. 2018 Jul;45(4):239-250. doi: 10.1159/000490714. Epub 2018 Jul 10. Transfus Med Hemother. 2018. PMID: 30283273 Free PMC article.
WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.
Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa JM, Solders G, Hertegård S, Savitcheva I, Jung HH, Tolnay M, Frey BM, Paucar M. Sveinsson O, et al. Among authors: engstrom c. Parkinsonism Relat Disord. 2018 Oct 8:S1353-8020(18)30399-7. doi: 10.1016/j.parkreldis.2018.09.014. Online ahead of print. Parkinsonism Relat Disord. 2018. PMID: 30305234 No abstract available.
Involuntary movements, vocalizations and cognitive decline.
Sveinsson O, Udd B, Svenningsson P, Gassner C, Engström C, Laffita-Mesa J, Solders G, Hertegård S, Savitcheva I, Jung HH, Tolnay M, Frey BM, Paucar M. Sveinsson O, et al. Among authors: engstrom c. Parkinsonism Relat Disord. 2020 Oct;79:135-137. doi: 10.1016/j.parkreldis.2019.05.029. Epub 2019 May 29. Parkinsonism Relat Disord. 2020. PMID: 31153763 No abstract available.
Two Prevalent ∼100-kb GYPB Deletions Causative of the GPB-Deficient Blood Group MNS Phenotype S-s-U- in Black Africans.
Gassner C, Denomme GA, Portmann C, Bensing KM, Mattle-Greminger MP, Meyer S, Trost N, Song YL, Engström C, Jungbauer C, Just B, Storry JR, Forster M, Franke A, Frey BM. Gassner C, et al. Among authors: engstrom c. Transfus Med Hemother. 2020 Jul;47(4):326-336. doi: 10.1159/000504946. Epub 2020 Jan 21. Transfus Med Hemother. 2020. PMID: 32884505 Free PMC article.
244 results