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Search for publications relevant for "genomic rearrangements"
genomic rearrangements
Publication
Class
Person
Publication
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publication
Novel complex genomic rearrangement of the BRCA1 gene
2008 |
First Faculty of Medicine
publication
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms
2006 |
Second Faculty of Medicine
publication
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication
2015 |
Second Faculty of Medicine
publication
Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
2010 |
Second Faculty of Medicine
publication
Oxidative Stress of Burkholderia cenocepacia Induces Insertion Sequence-Mediated Genomic Rearrangements That Interfere with Macrorestriction-Based Genotyping
2010 |
Second Faculty of Medicine
publication
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
2010 |
First Faculty of Medicine
publication
Easy and fast PCR-based protocol allows characterization of breakpoints resulting from Alu/Alu-mediated genomic rearrangements
2021 |
First Faculty of Medicine
publication
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants
2019 |
Second Faculty of Medicine
publication
Fine tuning of surface CRLF2 expression and its associated signaling profile in childhood B-cell precursor acute lymphoblastic leukemia
2015 |
Second Faculty of Medicine
publication
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
2020 |
First Faculty of Medicine
publication
The Assessment of Array Comparative Genomic Hybridization in Complex Karyotype Analyses
2010 |
First Faculty of Medicine
publication
Chromosome divergence during evolution of the tetraploid clawed frogs, Xenopus mellotropicalis and Xenopus epitropicalis as revealed by Zoo-FISH
2017 |
Faculty of Science
publication
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia
2009 |
First Faculty of Medicine
publication
Complete Ascertainment of Intragenic Copy Number Mutations (CNMs) in the CFTR Gene and its Implications for CNM Formation at Other Autosomal Loci
2010 |
Second Faculty of Medicine
publication
PALB2 as Another Candidate Gene for Genetic Testing in Patients with Hereditary Breast Cancer in Czech Republic
2016 |
First Faculty of Medicine
publication
Nuclear NR4A3 Immunostaining Is a Specific and Sensitive Novel Marker for Acinic Cell Carcinoma of the Salivary Glands
2019 |
Faculty of Medicine in Pilsen
publication
Spitz Tumor With SQSTM1::NTRK2 Fusion: A Clinicopathological Study of 5 Cases
2023 |
Faculty of Medicine in Pilsen
publication
The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer
2013 |
First Faculty of Medicine
publication
Global changes in gene expression associated with phenotypic switching of wild yeast
2014 |
Faculty of Science
publication
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma
2014 |
Faculty of Medicine in Pilsen
publication
Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions
2020 |
Second Faculty of Medicine, Faculty of Medicine in Pilsen