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Page 1
A de novo paradigm for male infertility.
Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E; Genetics of Male Infertility Initiative (GEMINI) consortium; Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA. Oud MS, et al. Among authors: mikulasova a. Nat Commun. 2022 Jan 10;13(1):154. doi: 10.1038/s41467-021-27132-8. Nat Commun. 2022. PMID: 35013161 Free PMC article.
Whole-genome sequencing reveals progressive versus stable myeloma precursor conditions as two distinct entities.
Oben B, Froyen G, Maclachlan KH, Leongamornlert D, Abascal F, Zheng-Lin B, Yellapantula V, Derkach A, Geerdens E, Diamond BT, Arijs I, Maes B, Vanhees K, Hultcrantz M, Manasanch EE, Kazandjian D, Lesokhin A, Dogan A, Zhang Y, Mikulasova A, Walker B, Morgan G, Campbell PJ, Landgren O, Rummens JL, Bolli N, Maura F. Oben B, et al. Among authors: mikulasova a. Nat Commun. 2021 Mar 25;12(1):1861. doi: 10.1038/s41467-021-22140-0. Nat Commun. 2021. PMID: 33767199 Free PMC article.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Stremenova Spegarova J, et al. Among authors: mikulasova a. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844. Blood. 2020. PMID: 32518946 Free article.
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: mikulasova a. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Gain(1)(q21) is an unfavorable genetic prognostic factor for patients with relapsed multiple myeloma treated with thalidomide but not for those treated with bortezomib.
Smetana J, Berankova K, Zaoralova R, Nemec P, Greslikova H, Kupska R, Mikulasova A, Frohlich J, Sevcikova S, Zahradova L, Krejci M, Sandecka V, Almasi M, Kaisarova P, Melicharova H, Adam Z, Penka M, Jarkovsky J, Jurczyszyn A, Hajek R, Kuglik P. Smetana J, et al. Among authors: mikulasova a. Clin Lymphoma Myeloma Leuk. 2013 Apr;13(2):123-30. doi: 10.1016/j.clml.2012.11.012. Epub 2013 Jan 4. Clin Lymphoma Myeloma Leuk. 2013. PMID: 23291040
Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience.
Smetana J, Frohlich J, Zaoralova R, Vallova V, Greslikova H, Kupska R, Nemec P, Mikulasova A, Almasi M, Pour L, Adam Z, Sandecka V, Zahradová L, Hajek R, Kuglik P. Smetana J, et al. Among authors: mikulasova a. Biomed Res Int. 2014;2014:209670. doi: 10.1155/2014/209670. Epub 2014 Jun 2. Biomed Res Int. 2014. PMID: 24987674 Free PMC article. Clinical Trial.
Mutational Spectrum, Copy Number Changes, and Outcome: Results of a Sequencing Study of Patients With Newly Diagnosed Myeloma.
Walker BA, Boyle EM, Wardell CP, Murison A, Begum DB, Dahir NM, Proszek PZ, Johnson DC, Kaiser MF, Melchor L, Aronson LI, Scales M, Pawlyn C, Mirabella F, Jones JR, Brioli A, Mikulasova A, Cairns DA, Gregory WM, Quartilho A, Drayson MT, Russell N, Cook G, Jackson GH, Leleu X, Davies FE, Morgan GJ. Walker BA, et al. Among authors: mikulasova a. J Clin Oncol. 2015 Nov 20;33(33):3911-20. doi: 10.1200/JCO.2014.59.1503. Epub 2015 Aug 17. J Clin Oncol. 2015. PMID: 26282654 Free PMC article. Clinical Trial.
37 results