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Items: 12

1.

Contribution of Massive Parallel Sequencing to Diagnosis of Hereditary Ovarian Cancer in the Czech Republic.

Soukupová J, Lhotová K, Zemánková P, Vočka M, Janatová M, Stolařová L, Borecká M, Kleiblová P, Macháčková E, Foretová L, Koudová M, Lhota F, Tavandzis S, Zikán M, Stránecký V, Veselá K, Panczak A, Kotlas J, Kleibl Z.

Klin Onkol. 2019 Summer;32(Supplementum2):72-78. doi: 10.14735/amko2019S72.

PMID:
31409082
2.

Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.

Kleiblová P, Stolařová L, Křížová K, Lhota F, Hojný J, Zemánková P, Havránek O, Vočka M, Černá M, Lhotová K, Borecká M, Janatová M, Soukupová J, Ševčík J, Zimovjanová M, Kotlas J, Panczak A, Veselá K, Červenková J, Schneiderová M, Burócziová M, Burdová K, Stránecký V, Foretová L, Macháčková E, Tavandzis S, Kmoch S, Macůrek L, Kleibl Z.

Klin Onkol. 2019 Summer;32(Supplementum2):36-50. doi: 10.14735/amko2019S36.

PMID:
31409080
3.

Estrogen Receptor Status Oppositely Modifies Breast Cancer Prognosis in BRCA1/BRCA2 Mutation Carriers Versus Non-Carriers.

Vocka M, Zimovjanova M, Bielcikova Z, Tesarova P, Petruzelka L, Mateju M, Krizova L, Kotlas J, Soukupova J, Janatova M, Zemankova P, Kleiblova P, Novotny J, Konopasek B, Chodacka M, Brychta M, Sochor M, Smejkalova-Musilova D, Cmejlova V, Kozevnikovova R, Miskarova L, Argalacsova S, Stolarova L, Lhotova K, Borecka M, Kleibl Z.

Cancers (Basel). 2019 May 28;11(6). pii: E738. doi: 10.3390/cancers11060738.

4.

Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.

Kleiblova P, Stolarova L, Krizova K, Lhota F, Hojny J, Zemankova P, Havranek O, Vocka M, Cerna M, Lhotova K, Borecka M, Janatova M, Soukupova J, Sevcik J, Zimovjanova M, Kotlas J, Panczak A, Vesela K, Cervenkova J, Schneiderova M, Burocziova M, Burdova K, Stranecky V, Foretova L, Machackova E, Tavandzis S, Kmoch S, Macurek L, Kleibl Z.

Int J Cancer. 2019 Oct 1;145(7):1782-1797. doi: 10.1002/ijc.32385. Epub 2019 May 20.

PMID:
31050813
5.

Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.

Elisakova V, Merta M, Reiterova J, Baxova A, Kotlas J, Hirschfeldova K, Obeidova L, Tesar V, Stekrova J.

BMC Nephrol. 2018 Jul 4;19(1):163. doi: 10.1186/s12882-018-0978-2.

6.

GRN mutation in a patient with a behavioral variant of frontotemporal lobar degeneration (bvFTD).

Walczysková S, Ressner P, Hilscherová Š, Kotlas J, Konrád J, Svobodová V.

Folia Neuropathol. 2017;55(1):67-72. doi: 10.5114/fn.2017.66715.

7.

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V.

BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59.

8.

Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.

Schwarzová L, Štekrová J, Florianová M, Novotný A, Schneiderová M, Lněnička P, Kebrdlová V, Kotlas J, Veselá K, Kohoutová M.

Fam Cancer. 2013 Mar;12(1):35-42. doi: 10.1007/s10689-012-9569-8.

PMID:
22987206
9.

[Inflammatory bowel disease and pregnancy].

Lukás K, Parízek A, Kotlas J, Novotný A.

Cas Lek Cesk. 2010;149(4):163-4, 166-72. Review. Czech.

PMID:
20518249
10.

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene.

Ticha I, Kleibl Z, Stribrna J, Kotlas J, Zimovjanova M, Mateju M, Zikan M, Pohlreich P.

Breast Cancer Res Treat. 2010 Nov;124(2):337-47. doi: 10.1007/s10549-010-0745-y. Epub 2010 Feb 5.

PMID:
20135348
11.

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J, Sulova M, Kebrdlova V, Zidkova K, Kotlas J, Ilencikova D, Vesela K, Kohoutova M.

BMC Med Genet. 2007 Apr 5;8:16.

12.

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Pohlreich P, Zikan M, Stribrna J, Kleibl Z, Janatova M, Kotlas J, Zidovska J, Novotny J, Petruzelka L, Szabo C, Matous B.

Breast Cancer Res. 2005;7(5):R728-36. Epub 2005 Jul 19.

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