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Page 1
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
Gach A, Pinkier I, Wysocka U, Sałacińska K, Salachna D, Szarras-Czapnik M, Pietrzyk A, Sakowicz A, Nykel A, Rutkowska L, Rybak-Krzyszkowska M, Socha M, Jamsheer A, Jakubowski L. Gach A, et al. Among authors: rutkowska l. Arch Med Sci. 2020 Sep 18;18(2):353-364. doi: 10.5114/aoms.2020.98909. eCollection 2022. Arch Med Sci. 2020. PMID: 35316923 Free PMC article.
"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.
Podgórski M, Szatko K, Stańczyk M, Pawlak-Bratkowska M, Konopka A, Starostecka E, Tkaczyk M, Góreczny S, Rutkowska L, Gach A, Łukaszewski M, Grzelak P, Banach M. Podgórski M, et al. Among authors: rutkowska l. Lipids Health Dis. 2020 Jul 14;19(1):169. doi: 10.1186/s12944-020-01335-2. Lipids Health Dis. 2020. PMID: 32664969 Free PMC article.
Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Jamsheer A, Bukowska-Olech E, Jaszczuk I, Jakubowski L, Gach A. Sałacińska K, et al. Among authors: rutkowska l. Front Genet. 2021 Jul 9;12:692978. doi: 10.3389/fgene.2021.692978. eCollection 2021. Front Genet. 2021. PMID: 34306033 Free PMC article.
The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfecta.
Sałacińska K, Michałus I, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Kępczyński Ł, Salachna D, Gach A. Sałacińska K, et al. Among authors: rutkowska l. Mol Genet Genomic Med. 2022 Aug;10(8):e1996. doi: 10.1002/mgg3.1996. Epub 2022 Jun 24. Mol Genet Genomic Med. 2022. PMID: 35748117 Free PMC article.
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K, Pinkier I, Rutkowska L, Chlebna-Sokół D, Jakubowska-Pietkiewicz E, Michałus I, Kępczyński Ł, Salachna D, Wieczorek-Cichecka N, Piotrowicz M, Chilarska T, Jamsheer A, Matusik P, Wilk M, Petriczko E, Giżewska M, Stecewicz I, Walczak M, Rybak-Krzyszkowska M, Lewiński A, Gach A. Sałacińska K, et al. Among authors: rutkowska l. Front Endocrinol (Lausanne). 2023 Sep 22;14:1149982. doi: 10.3389/fendo.2023.1149982. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37810882 Free PMC article.