Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Runa M Grimholt"'
Autor:
Marianne K Kringen, Armin P Piehler, Runa M Grimholt, Mimi S Opdal, Kari Bente F Haug, Petter Urdal
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e90248 (2014)
The major enzyme responsible for the glucuronidation of bilirubin is the uridine 5'-diphosphoglucose glucuronosyltransferase A1 (UGT1A1) enzyme, and genetic variation in the UGT1A1 gene is reported to influence the bilirubin concentration in the bloo
Externí odkaz:
https://doaj.org/article/7f4fc252f56748058ee2b171c304310b
Publikováno v:
Scandinavian Journal of Clinical and Laboratory Investigation
α-thalassemia is one of the most common monogenic diseases worldwide and is caused by reduced or absent synthesis of α-globin chains, most commonly due to deletions of one or more of the α-globin genes. α-thalassemia occurs with high frequency in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f299d50b1d3c0909ffb52c8ba08465c
https://hdl.handle.net/11250/2993705
https://hdl.handle.net/11250/2993705
Autor:
Georgina, Martin, Runa M, Grimholt, Doan, Le, Anne G, Bechensteen, Olav, Klingenberg, Bente, Fjeld, Thomas, Fourie, Renee, Perrier, Melanie, Proven, Shirley J, Henderson, Noémi B A, Roy
Publikováno v:
Hemoglobin. 45(4)
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (
Autor:
Anne Grete Bechensteen, Doan Le, Renee Perrier, Thomas Fourie, Bente Fjeld, Shirley Henderson, Melanie Proven, Noémi B. A. Roy, Runa M. Grimholt, Olav Klingenberg, Georgina Martin
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c7f8b05a7f5a9700dfba5ce8dd8a4c
http://hdl.handle.net/10852/93626
http://hdl.handle.net/10852/93626
Publikováno v:
Hemoglobin. 43(2)
A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A
Publikováno v:
Hemoglobin
A new unstable hemoglobin (Hb) variant, named Hb Aalesund, was detected during Hb A1c measurement in a patient with a nearly compensated hemolytic anemia. Sequencing of the α-globin genes revealed a 7 bp deletion in exon 3 of the HBA2 gene (HBA2: c.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca2546d4a8389c6fa375caff7e6fd09f
https://hdl.handle.net/10642/7675
https://hdl.handle.net/10642/7675
Publikováno v:
Tidsskrift for Den norske legeforening.
Autor:
Cornelis L. Harteveld, Bente Fjeld, Sandra G.J. Arkesteijn, Runa M. Grimholt, Olav Klingenberg
Publikováno v:
Hemoglobin, 42(2), 126-128
Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have fatal consequenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e04654edb3e0964ae270100a801eafa
https://doi.org/10.1080/03630269.2018.1473255
https://doi.org/10.1080/03630269.2018.1473255
Autor:
Runa M. Grimholt, Anne Grete Bechensteen, Bente Fjeld, Bjørn Dalhus, Anne Vestli, Petter Urdal, Olav Klingenberg
Publikováno v:
Hemoglobin. 42(2)
Unstable hemoglobin (Hb) variants are the result of sequence variants in the globin genes causing precipitation of Hb molecules in red blood cells (RBCs). Intracellular inclusions derived from the unstable Hb reduce the life-span of the red cells and
Publikováno v:
BMC Hematology, Vol 19, Iss 1, Pp 1-2 (2019)
The copy number of the HBA1 assay for the -(α)20.5 deletion in the HBA-CNV method described in the original article [1] was incorrectly reported.