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Page 1
Germline multigene panel testing of patients with endometrial cancer.
Kral J, Jelinkova S, Zemankova P, Vocka M, Borecka M, Cerna L, Cerna M, Dostalek L, Duskova P, Foretova L, Havranek O, Horackova K, Hovhannisyan M, Chvojka S, Kalousova M, Kosarova M, Koudova M, Krutilkova V, Machackova E, Nehasil P, Novotny J, Otahalova B, Puchmajerova A, Safarikova M, Slama J, Stranecky V, Subrt I, Tavandzis S, Zikan M, Zima T, Soukupova J, Kleiblova P, Kleibl Z, Janatova M. Kral J, et al. Among authors: puchmajerova a. Oncol Lett. 2023 Apr 12;25(6):216. doi: 10.3892/ol.2023.13802. eCollection 2023 Jun. Oncol Lett. 2023. PMID: 37153042 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo… See abstract for full author list ➔ Stolarova L, et al. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
The guidelines for clinical practice for carriers of germline mutations in hereditary breast, ovarian, prostate, and pancreatic cancer predisposition genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 (4.2024).
Kleiblová P, Novotný J, Cibula D, Curtisová V, Dubová O, Foretová L, Germanová A, Janatová M, Havránek O, Hojsáková M, Hudcová M, Koudová M, Krutílková V, Palacova M, Paulich S, Petrakova K, Presl J, Puchmajerová A, Soukupová J, Šenkeříková M, Šimková Z, Štěpánková H, Šubrt I, Tachecí I, Tesner P, Urban O, Veselá K, Vilímová Š, Vlčková Z, Vočka M, Weinberger V, Zikán M, Zimovjanová M, Kleibl Z. Kleiblová P, et al. Among authors: puchmajerova a. Klin Onkol. 2024;38(4):292-299. doi: 10.48095/ccko2024292. Klin Onkol. 2024. PMID: 39174333 English.
The guidelines for clinical practice for carriers of germline mutations in the Lynch syndrome predisposition genes MLH1, MSH2, MSH6, PMS2 and large deletions of EPCAM (4.2024).
Novotný J, Cibula D, Curtisová V, Dubová O, Foretová L, Germanová A, Janatová M, Havránek O, Hojsáková M, Hudcová M, Koudová M, Krutílková V, Palacova M, Paulich S, Petrakova K, Presl J, Puchmajerová A, Soukupová J, Šenkeříková M, Šimková Z, Štěpánková H, Šubrt I, Tachecí I, Tesner P, Urban O, Veselá K, Vilímová Š, Vlčková Z, Vočka M, Weinberger V, Zikán M, Zimovjanová M, Kleibl Z, Kleiblová P. Novotný J, et al. Among authors: puchmajerova a. Klin Onkol. 2024;38(5):384-389. doi: 10.48095/ccko2024384. Klin Onkol. 2024. PMID: 39516038 English.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R, Pinková B, Réblová K, Bučková H, Kopečková L, Němečková J, Puchmajerová A, Malíková M, Hermanová M, Fajkusová L. Borská R, et al. Among authors: puchmajerova a. Orphanet J Rare Dis. 2019 May 2;14(1):92. doi: 10.1186/s13023-019-1076-7. Orphanet J Rare Dis. 2019. PMID: 31046801 Free PMC article.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Hubacek M, Kripnerova T, Nemcikova M, Krepelová A, Puchmajerova A, Malikova M, Havlovicová M, Cadova J, Kodet R, Macek M Jr, Dostalova T. Hubacek M, et al. Among authors: puchmajerova a. Neuro Endocrinol Lett. 2016 Sep;37(4):269-276. Neuro Endocrinol Lett. 2016. PMID: 27857042
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, Lüttgen S, Aydin H, von Deimling F, Evers C, Hahn A, Hempel M, Issa U, Kahlert AK, Lieb A, Villavicencio-Lorini P, Ballesta-Martinez MJ, Nampoothiri S, Ovens-Raeder A, Puchmajerová A, Satanovskij R, Seidel H, Unkelbach S, Zabel B, Kutsche K, Zenker M. Kouz K, et al. Among authors: puchmajerova a. Genet Med. 2016 Dec;18(12):1226-1234. doi: 10.1038/gim.2016.32. Epub 2016 Apr 21. Genet Med. 2016. PMID: 27101134 Free article.
37 results