F. Lhota

发表

Independent regulation of short and long forms of latent TGF‐β binding protein (LTBP)‐4 in cultured fibroblasts and human tissues

J. Keski‐Oja, K. Koli, Anna K. Kantola, 2010, Journal of cellular physiology.

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

L. Forétova, K. Hodaňová, H. Hartmannová, 2018, PloS one.

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

L. Forétova, M. Zikan, J. Kotlas, 2019, Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti.

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

E. Schröck, A. Rump, B. Klink, 2016, PLoS genetics.

Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2‐negatively tested breast cancer patients

K. Hodaňová, H. Hartmannová, S. Kmoch, 2016, Clinical genetics.

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

L. Forétova, M. Zikan, S. Kmoch, 2020, Cancers.

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma

P. Souček, J. Hojny, P. Kleiblova, 2015, PloS one.

Accurate Microbiome Sequencing with Synthetic Long Read Sequencing

I. Wu, F. Garcia-Pichel, Michael A. Balamotis, 2020, bioRxiv.

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

K. Hodaňová, H. Hartmannová, J. Hojny, 2017, Gene.

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

K. Křížová, J. Kotlas, S. Kmoch, 2019, International journal of cancer.

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

S. Kozubek, E. Lukášová, M. Falk, 2012, Cellular signalling.

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

J. Bartek, M. Falk, Z. Hodny, 2013, Cellular signalling.

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.

P. Souček, P. Kleiblova, J. Soukupová, 2016, Gene.

The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region

D. Gašperíková, P. Seeman, L. Varga, 2021, Genes.

RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk

P. Kleiblova, J. Soukupová, Z. Kleibl, 2016, Clinical genetics.