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Search for publications relevant for "Multiplex ligation-dependent probe amplification (MLPA)"
Multiplex ligation-dependent probe amplification (MLPA)
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
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
Changes in MYCN expression in human neuroblastoma cell lines following cisplatin treatment may not be related to MYCN copy numbers
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
2011 |
Second Faculty of Medicine
publication
Mutations in STK11 gene in Czech Peutz-Jeghers patients
2009 |
Second Faculty of Medicine
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
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
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
Low frequency of MLL-partial tandem duplications in paediatric acute myeloid leukaemia using MLPA as a novel DNA screenings technique
2010 |
Second Faculty of Medicine
publication
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
2014 |
First Faculty of Medicine
publication
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
2020 |
Second Faculty of Medicine
publication
A Multilocus Technique for Risk Evaluation of Patients with Neuroblastoma
2011 |
Publication without faculty affiliation
publication
Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma
2015 |
First Faculty of Medicine
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
Second Faculty of Medicine
publication
Genomic landscape of B-other acute lymphoblastic leukemia in an adult retrospective cohort with a focus on BCR-ABL1-like subtype
2021 |
First Faculty of Medicine