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The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: karteszi j. Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23. Mol Biol Rep. 2019. PMID: 31338750
Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50.
Kovács AL, Kárteszi J, Prohászka Z, Kalmár T, Késmárky G, Koltai K, Nagy Z, Sebők J, Vas T, Molnár K, Berki T, Böröcz K, Gyömörei C, Szalma J, Egyed M, Horváth S, Oláh P, Csuka D, Németh V, Gyulai R. Kovács AL, et al. Among authors: karteszi j. Front Immunol. 2022 Sep 1;13:919411. doi: 10.3389/fimmu.2022.919411. eCollection 2022. Front Immunol. 2022. PMID: 36119109 Free PMC article.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: karteszi j. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
23 results