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Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant.
Jezela-Stanek A, Kucharczyk M, Falana K, Jurkiewicz D, Mlynek M, Wicher D, Rydzanicz M, Kugaudo M, Cieslikowska A, Ciara E, Ploski R, Krajewska-Walasek M. Jezela-Stanek A, et al. Among authors: mlynek m. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Mar;160(1):161-7. doi: 10.5507/bp.2016.006. Epub 2016 Feb 29. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26927468 Free article. Review.
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. Among authors: mlynek m. J Clin Med. 2020 Apr 25;9(5):1245. doi: 10.3390/jcm9051245. J Clin Med. 2020. PMID: 32344861 Free PMC article.
Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?
Jezela-Stanek A, Pokora P, Młynek M, Smyk M, Ziemkiewicz K, Różdżyńska-Świątkowska A, Tylki-Szymańska A. Jezela-Stanek A, et al. Among authors: mlynek m. Clin Dysmorphol. 2021 Apr 1;30(2):76-82. doi: 10.1097/MCD.0000000000000344. Clin Dysmorphol. 2021. PMID: 33290290 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. Among authors: mlynek m. 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
Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins-Diagnostic implications.
Rydzanicz M, Olszewski P, Kedra D, Davies H, Filipowicz N, Bruhn-Olszewska B, Cavalli M, Szczałuba K, Młynek M, Machnicki MM, Stawiński P, Kostrzewa G, Krajewski P, Śladowski D, Chrzanowska K, Dumanski JP, Płoski R. Rydzanicz M, et al. Among authors: mlynek m. Mol Genet Genomic Med. 2021 Jan;9(1):e1526. doi: 10.1002/mgg3.1526. Epub 2020 Dec 14. Mol Genet Genomic Med. 2021. PMID: 33319479 Free PMC article.
32 results