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Search for publications relevant for "dependent probe amplification"
dependent probe amplification
Publication
Class
Person
Publication
Programmes
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
A novel high-resolution chipCE assay for rapid detection of EGFR gene mutations and amplifications in lung cancer therapy by a combination of fragment analysis, denaturing CE and MLPA
2010 |
Faculty of Science
publication
Genetics of spinal muscular atrophy
2020 |
Second Faculty of Medicine
publication
Aberrant methylation of tumour suppressor genes WT1, GATA5 and PAX5 in hepatocellular carcinoma
2016 |
Faculty of Medicine in Hradec Králové
publication
A Multilocus Technique for Risk Evaluation of Patients with Neuroblastoma
2011 |
Publication without faculty affiliation
publication
Changes in MYCN expression in human neuroblastoma cell lines following cisplatin treatment may not be related to MYCN copy numbers
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Localized mosaic neurofibromatosis type 1
2022 |
Second Faculty of Medicine
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Faculty of Medicine in Pilsen, Second Faculty of Medicine
publication
GJB2 Mutations in Patients with Nonsyndromic Hearing Loss from Croatia
2009 |
Second Faculty of Medicine
publication
SMARCB1/INI1-deficient sinonasal carcinoma shows methylation of RASSF1 gene: A clinicopathological, immunohistochemical and molecular genetic study of a recently described entity
2017 |
Faculty of Medicine in Hradec Králové, First Faculty of Medicine
publication
Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.
2009 |
First Faculty of Medicine
publication
Promoter Methylation of GATA4, WIF1, NTRK1 and Other Selected Tumour Suppressor Genes in Ovarian Cancer
2013 |
Faculty of Medicine in Hradec Králové
publication
Methylation analysis of tumour suppressor genes in ovarian cancer using MS-MLPA
2012 |
Faculty of Medicine in Hradec Králové
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
2007 |
Second Faculty of Medicine
publication
Utilization of MLPA to detection of genetic changes in neuroblastoma
2008 |
Second Faculty of Medicine
publication
Epidermal Growth Factor Receptor Gene Amplification in Patients with Advanced-stage NSCLC
2016 |
Faculty of Science, Faculty of Medicine in Pilsen
publication
Methylation analysis of tumor suppressor genes in endometroid carcinoma of endometrium using MS-MLPA
2013 |
Faculty of Medicine in Hradec Králové
publication
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17
2007 |
Second Faculty of Medicine
publication
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
2011 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
2011 |
Second Faculty of Medicine
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
Second Faculty of Medicine
publication
Application of denaturing capillary electrophoresis for the detection of prognostic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes in brain tumors
2018 |
Faculty of Science, First Faculty of Medicine
publication
Mutations in STK11 gene in Czech Peutz-Jeghers patients
2009 |
Second Faculty of Medicine
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
Second Faculty of Medicine
publication
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Prognostic Importance of Cell Cycle Regulators Cyclin D1 (CCND1) and Cyclin-Dependent Kinase Inhibitor 1B (CDKN1B/p27) in Sporadic Gastric Cancers
2016 |
First Faculty of Medicine, Central Library of Charles University
publication
Elevated DNA methylation in malignant tumors of the sinonasal tract and its association with patient survival
2018 |
Faculty of Medicine in Hradec Králové, First Faculty of Medicine
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine