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Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss.
Hum Genet. 2022 Apr;141(3-4):445-453. doi: 10.1007/s00439-022-02443-y. Epub 2022 Mar 7.
Hum Genet. 2022.
PMID: 35254497
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M.
Oziębło D, et al. Among authors: sarosiak a.
J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5.
J Transl Med. 2019.
PMID: 31655630
Free PMC article.
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TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Oziębło D, Leja ML, Lazniewski M, Sarosiak A, Tacikowska G, Kochanek K, Plewczynski D, Skarżyński H, Ołdak M.
Oziębło D, et al. Among authors: sarosiak a.
Sci Rep. 2021 May 13;11(1):10300. doi: 10.1038/s41598-021-89645-y.
Sci Rep. 2021.
PMID: 33986365
Free PMC article.
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Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis.
Bałdyga N, Sarosiak A, Oziębło D, Furmanek M, Szulborski K, Szaflik JP, Skarżyński H, Ołdak M.
Bałdyga N, et al. Among authors: sarosiak a.
Audiol Neurootol. 2021;26(4):226-235. doi: 10.1159/000510695. Epub 2020 Dec 22.
Audiol Neurootol. 2021.
PMID: 33352548
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Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
Sarosiak A, Udziela M, Ścieżyńska A, Oziębło D, Wawrzynowska A, Szaflik JP, Ołdak M.
Sarosiak A, et al.
Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2127-2134. doi: 10.1007/s00417-018-4075-9. Epub 2018 Aug 6.
Graefes Arch Clin Exp Ophthalmol. 2018.
PMID: 30084067
Free PMC article.
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High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health.
Sarosiak A, Oziębło D, Udziela M, Vermeer C, Malejczyk J, Szaflik JP, Ołdak M.
Sarosiak A, et al.
Acta Ophthalmol. 2021 Mar;99(2):e171-e177. doi: 10.1111/aos.14533. Epub 2020 Jun 29.
Acta Ophthalmol. 2021.
PMID: 32602245
Free article.
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