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Page 1
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: michalus i. 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.
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: michalus i. 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.
Vitamin D Supplementation Guidelines for General Population and Groups at Risk of Vitamin D Deficiency in Poland-Recommendations of the Polish Society of Pediatric Endocrinology and Diabetes and the Expert Panel With Participation of National Specialist Consultants and Representatives of Scientific Societies-2018 Update.
Rusińska A, Płudowski P, Walczak M, Borszewska-Kornacka MK, Bossowski A, Chlebna-Sokół D, Czech-Kowalska J, Dobrzańska A, Franek E, Helwich E, Jackowska T, Kalina MA, Konstantynowicz J, Książyk J, Lewiński A, Łukaszkiewicz J, Marcinowska-Suchowierska E, Mazur A, Michałus I, Peregud-Pogorzelski J, Romanowska H, Ruchała M, Socha P, Szalecki M, Wielgoś M, Zwolińska D, Zygmunt A. Rusińska A, et al. Among authors: michalus i. Front Endocrinol (Lausanne). 2018 May 31;9:246. doi: 10.3389/fendo.2018.00246. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29904370 Free PMC article. Review.
Metabolic bone markers can be related to preserved insulin secretion in children with newly diagnosed type 1 diabetes.
Szymańska M, Michałus I, Kaszkowiak M, Wyka K, Chlebna-Sokół D, Fendler W, Jakubowska-Pietkiewicz E, Młynarski W, Szadkowska A, Zmysłowska A. Szymańska M, et al. Among authors: michalus i. Pediatr Endocrinol Diabetes Metab. 2020;26(1):10-16. doi: 10.5114/pedm.2020.94391. Pediatr Endocrinol Diabetes Metab. 2020. PMID: 32418417 Free article. English.
Evidence of a significant vitamin D deficiency among 9-13-year-old Polish children: results of a multicentre study.
Chlebna-Sokół D, Konstantynowicz J, Abramowicz P, Kulik-Rechberger B, Niedziela M, Obuchowicz A, Ziora K, Karalus-Gach J, Golec J, Michałus I, Karczmarewicz E, Halaba ZP. Chlebna-Sokół D, et al. Among authors: michalus i. Eur J Nutr. 2019 Aug;58(5):2029-2036. doi: 10.1007/s00394-018-1756-4. Epub 2018 Jun 23. Eur J Nutr. 2019. PMID: 29936536 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: michalus i. Front Genet. 2021 Jul 9;12:692978. doi: 10.3389/fgene.2021.692978. eCollection 2021. Front Genet. 2021. PMID: 34306033 Free PMC article.
14 results