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The Y-chromosome F haplogroup contributes to the development of Barrett's esophagus-associated esophageal adenocarcinoma in a white male population.
Westra WM, Rygiel AM, Mostafavi N, de Wit GMJ, Roes AL, Moons LMG, Peppelenbosch MP, Ouburg S, Morré SA, Jacobs M, Siersema PD, Repping S, Wang KK, Krishnadath KK. Westra WM, et al. Among authors: rygiel am. Dis Esophagus. 2020 Sep 4;33(9):doaa011. doi: 10.1093/dote/doaa011. Dis Esophagus. 2020. PMID: 32129453 Free PMC article.
Hypogonadism - when does genetic diagnosis help in therapy?
Jankowska KK, Kutkowska-Kazmierczak A, Rygiel AM. Jankowska KK, et al. Among authors: rygiel am. Ginekol Pol. 2024;95(4):245-251. doi: 10.5603/gpl.97327. Epub 2023 Oct 20. Ginekol Pol. 2024. PMID: 37861224 Free article.
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.
Dawidziuk M, Podwysocka A, Jurek M, Obersztyn E, Bekiesinska-Figatowska M, Goszczanska-Ciuchta A, Bukowska-Olech E, Rygiel AM, Guilbride DL, Wiszniewski W, Gawlinski P. Dawidziuk M, et al. Among authors: rygiel am. J Appl Genet. 2023 Sep;64(3):507-514. doi: 10.1007/s13353-023-00773-9. Epub 2023 Aug 21. J Appl Genet. 2023. PMID: 37599337 Free PMC article.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Kuseyri Hübschmann O, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: rygiel am. Mol Genet Metab. 2023 Aug;139(4):107647. doi: 10.1016/j.ymgme.2023.107647. Epub 2023 Jul 7. Mol Genet Metab. 2023. PMID: 37453860 No abstract available.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. Himmelreich N, et al. Among authors: rygiel am. Mol Genet Metab. 2023 Jul;139(3):107624. doi: 10.1016/j.ymgme.2023.107624. Epub 2023 Jun 2. Mol Genet Metab. 2023. PMID: 37348148 Free article.
The Epidermal Transcriptome Analysis of a Novel c.639_642dup LORICRIN Variant-Delineation of the Loricrin Keratoderma Pathology.
Wertheim-Tysarowska K, Osipowicz K, Gielniewski B, Wojtaś B, Szabelska-Beręsewicz A, Zyprych-Walczak J, Mika A, Tysarowski A, Duk K, Rygiel AM, Niepokój K, Woźniak K, Kowalewski C, Wierzba J, Jezela-Stanek A. Wertheim-Tysarowska K, et al. Among authors: rygiel am. Int J Mol Sci. 2023 May 29;24(11):9459. doi: 10.3390/ijms24119459. Int J Mol Sci. 2023. PMID: 37298411 Free PMC article.
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.
Tóth A, Demcsák A, Zankl F, Oracz G, Unger LS, Bugert P, Laumen H, Párniczky A, Hegyi P, Rosendahl J, Gambin T, Płoski R, Koziel D, Gluszek S, Lindgren F, Löhr JM, Sahin-Tóth M, Witt H, Rygiel AM, Ewers M, Hegyi E. Tóth A, et al. Among authors: rygiel am. Pancreatology. 2022 Sep;22(6):713-718. doi: 10.1016/j.pan.2022.06.258. Epub 2022 Jun 23. Pancreatology. 2022. PMID: 35773178 Free PMC article.
46 results