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Page 1
Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a].
Chen Y, Fu Y, Koczkowska M, Callens T, Gomes A, Liu J, Bradley W, Brown B, Shaw B, D'Agostino D, Fu C, Wallis D. Chen Y, et al. Among authors: koczkowska m. Cancers (Basel). 2024 Jun 29;16(13):2406. doi: 10.3390/cancers16132406. Cancers (Basel). 2024. PMID: 39001468 Free PMC article.
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions: Confirmation of the Predominant Maternal Origin of Type-1 Deletions.
Pacot L, Ye M, Nectoux J, Laurendeau I, Briand-Suleau A, Coustier A, Maillard T, Barbance C, Orhant L, Vaucouleur N, Blanché H, Parfait B, Wolkenstein P, Vidaud M; EURONET-NF; Vidaud D, Pasmant E. Pacot L, et al. J Mol Diagn. 2024 Feb;26(2):150-157. doi: 10.1016/j.jmoldx.2023.11.005. Epub 2023 Nov 25. J Mol Diagn. 2024. PMID: 38008284 Free article.
Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.
Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K, Messiaen LM. Koczkowska M, et al. Hum Genet. 2023 Jul;142(7):849-861. doi: 10.1007/s00439-023-02555-z. Epub 2023 Apr 25. Hum Genet. 2023. PMID: 37186028 Free PMC article.
Size matters: the impact of nucleus size on results from spatial transcriptomics.
Mohammadi E, Chojnowska K, Bieńkowski M, Kostecka A, Koczkowska M, Żmijewski MA, Jąkalski M, Ingelsson M, Filipowicz N, Olszewski P, Davies H, Wierzbicka JM, Hyman BT, Dumanski JP, Piotrowski A, Mieczkowski J. Mohammadi E, et al. Among authors: koczkowska m. J Transl Med. 2023 Apr 21;21(1):270. doi: 10.1186/s12967-023-04129-z. J Transl Med. 2023. PMID: 37081484 Free PMC article.
Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
Jasiak A, Koczkowska M, Stukan M, Wydra D, Biernat W, Izycka-Swieszewska E, Buczkowski K, Eccles MR, Walker L, Wasag B, Ratajska M. Jasiak A, et al. Among authors: koczkowska m. Exp Mol Pathol. 2023 Apr;130:104856. doi: 10.1016/j.yexmp.2023.104856. Epub 2023 Mar 3. Exp Mol Pathol. 2023. PMID: 36791903 Free article.
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype.
Koczkowska M, Jąkalski M, Birkholz-Walerzak D, Kostecka A, Iliszko M, Wójcik M, Lewandowski K, Milska-Musa K, Buckley PG, Drężek K, Juhas U, Kuziemska E, Maciejewska A, Pawłowski R, Wasąg B, Filipowicz N, Chojnowska K, Ławrynowicz U, Dumanski JP, Lipska-Ziętkiewicz BS, Mieczkowski J, Piotrowski A. Koczkowska M, et al. Sci Rep. 2022 Dec 2;12(1):20854. doi: 10.1038/s41598-022-25308-w. Sci Rep. 2022. PMID: 36460769 Free PMC article.
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A, Nowikiewicz T, Olszewski P, Koczkowska M, Horbacz M, Heinzl M, Andreou M, Salazar R, Mair T, Madanecki P, Gucwa M, Davies H, Skokowski J, Buckley PG, Pęksa R, Śrutek E, Szylberg Ł, Hartman J, Jankowski M, Zegarski W, Tiemann-Boege I, Dumanski JP, Piotrowski A. Kostecka A, et al. Among authors: koczkowska m. NPJ Breast Cancer. 2022 Jun 29;8(1):76. doi: 10.1038/s41523-022-00443-9. NPJ Breast Cancer. 2022. PMID: 35768433 Free PMC article.
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Piotrowski A, Koczkowska M, Poplawski AB, Bartoszewski R, Króliczewski J, Mieczkowska A, Gomes A, Crowley MR, Crossman DK, Chen Y, Lao P, Serra E, Llach MC, Castellanos E, Messiaen LM. Piotrowski A, et al. Among authors: koczkowska m. Hum Mutat. 2022 Jan;43(1):74-84. doi: 10.1002/humu.24294. Epub 2021 Nov 15. Hum Mutat. 2022. PMID: 34747535
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
34 results