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Page 1
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.
Murcia Pienkowski V, Kucharczyk M, Rydzanicz M, Poszewiecka B, Pachota K, Młynek M, Stawiński P, Pollak A, Kosińska J, Wojciechowska K, Lejman M, Cieślikowska A, Wicher D, Stembalska A, Matuszewska K, Materna-Kiryluk A, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527. Epub 2018 Oct 23. J Med Genet. 2019. PMID: 30352868
Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy.
Jezela-Stanek A, Walczak A, Łaźniewski M, Kosińska J, Stawiński P, Murcia Pienkowski V, Biernacka A, Rydzanicz M, Kostrzewa G, Krajewski P, Plewczyński D, Płoski R. Jezela-Stanek A, et al. Among authors: murcia pienkowski v. Clin Genet. 2019 Jun;95(6):736-738. doi: 10.1111/cge.13534. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30920656 No abstract available.
Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.
Szczałuba K, Chmielewska JJ, Sokolowska O, Rydzanicz M, Szymańska K, Feleszko W, Włodarski P, Biernacka A, Murcia Pienkowski V, Walczak A, Bargeł E, Królewczyk K, Nowacka A, Stawiński P, Nowis D, Dziembowska M, Płoski R. Szczałuba K, et al. Among authors: murcia pienkowski v. Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30238967
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
Smigiel R, Biernacka A, Biela M, Murcia-Pienkowski V, Szmida E, Gasperowicz P, Kosinska J, Kostrzewa G, Koppolu AA, Walczak A, Wawrzuta D, Rydzanicz M, Sasiadek M, Ploski R. Smigiel R, et al. Among authors: murcia pienkowski v. J Hum Genet. 2018 Apr;63(4):517-520. doi: 10.1038/s10038-017-0391-x. Epub 2018 Feb 6. J Hum Genet. 2018. PMID: 29410511 Review.
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.
Rydzanicz M, Wachowska M, Cook EC, Lisowski P, Kuźniewska B, Szymańska K, Diecke S, Prigione A, Szczałuba K, Szybińska A, Koppolu A, Murcia Pienkowski V, Kosińska J, Wiweger M, Kostrzewa G, Brzozowska M, Domańska-Pakieła D, Jurkiewicz E, Stawiński P, Gromadka A, Zielenkiewicz P, Demkow U, Dziembowska M, Kuźnicki J, Creamer TP, Płoski R. Rydzanicz M, et al. Among authors: murcia pienkowski v. Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254215 Free PMC article.
15 results