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Page 1
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Among authors: kepczynski l. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 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: kepczynski 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: kepczynski 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.
Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
Rutkowska L, Pinkier I, Sałacińska K, Kępczyński Ł, Salachna D, Lewek J, Banach M, Matusik P, Starostecka E, Lewiński A, Płoski R, Stawiński P, Gach A. Rutkowska L, et al. Among authors: kepczynski l. Genes (Basel). 2022 Aug 10;13(8):1424. doi: 10.3390/genes13081424. Genes (Basel). 2022. PMID: 36011335 Free PMC article.
[Von Hippel-Lindau syndrome - a case report].
Figlus M, Kaczorowska B, Jaskólski DJ, Kępczyński Ł. Figlus M, et al. Among authors: kepczynski l. Pol Merkur Lekarski. 2018 May 25;44(263):248-252. Pol Merkur Lekarski. 2018. PMID: 29813043 Polish.
The Usefulness of Cell-Based and Liquid-Based Urine Tests in Clarifying the Diagnosis and Monitoring the Course of Urothelial Carcinoma. Identification of Novel, Potentially Actionable, RB1 and ERBB2 Somatic Mutations.
Kałużewski T, Przybylski GK, Bednarek M, Glazar S, Grabiec M, Jędrzejczyk A, Kępczyński Ł, Kubiak I, Kucharska D, Morel A, Owczarek M, Rożniecki M, Sałamunia J, Szewczyk D, Szwalski J, Kałużewski B. Kałużewski T, et al. Among authors: kepczynski l. J Pers Med. 2021 Apr 30;11(5):362. doi: 10.3390/jpm11050362. J Pers Med. 2021. PMID: 33946229 Free PMC article.
16 results