Filtry
Bi-allelic REN Mutations and Undetectable Plasma Renin Activity in a Patient With Progressive CKD
with bi-allelic REN mutations and loss of systemic renin activity but functional kidney development. This case illustrates that bi-allelic mutations of REN and other-allelic...
Human genetics
- 2023 •
- Jimp •
- Odkaz
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Optimizing of molecular methods for detection of point mutations associated with Colorado potato beetle resistance to organophosphates and pyrethroids
RFLP and Bi-PASA for detection of resistance alleles is compared. Both RFLP and Bi-PASAwere suitable for detecting resistance alleles to pyrethroids and in most cases, also for resistance alleles to organ...
GF - Choroby, škůdci, plevely a ochrana rostlin
- 2010 •
- D
Rok uplatnění
D - Stať ve sborníku
Homologous recombination DNA repair defects in PALB2-associated breast cancers
the genes most frequently affected by somatic mutations. Bi-allelic PALB2 inactivation displayed the HRD-related mutational signature 3. In addition, bi-allelic inactivation cancers (BCs), and wh...
Biological sciences
- 2019 •
- Jimp •
- Odkaz
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
tubulointerstitial kidney disease due to REN mutations (ADTKD-REN), limiting characterization had a REN mutation in the signal peptide region (signal group), 27 of the mature group. REN signal pe...
Biological sciences
- 2020 •
- Jimp •
- Odkaz
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Detection of organophosphate and pyrethroid resistance alleles in Czech Leptinotarsa decemlineata (Coleoptera: Chrysomelidae) populations by molecular methods
reaction amplification of specific alleles (Bi-PASA) for detection of resistance alleles is compared. RESULTS: Leptinotarsa decemlineata from three sites showed higher frequencies of resistance alleles to organoph...
EB - Genetika a molekulární biologie
- 2010 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
A quarter of NRAS positive patients carry multiple point mutations, each of them localised separately in different alleles
A quarter of NRAS positive patients carry multiple point mutations, each of them localised separately in different alleles, A quarter of NRAS positive patients carry multiple point mutations, each of them localised separate...
Microbiology
- 2018 •
- O
Rok uplatnění
O - Ostatní výsledky
Method of multiplex allele-specific PCR amplification in molecular diagnostics of Leber?s hereditary optic neuropathy
We have established new method for diagnostics and screening of Leber hereditary optic neuropathy (LHON). The method is based on multiplex, allele-specific PCR analysis of mtDNA mutations 3460 and 11778......
EB - Genetika a molekulární biologie
- 2000 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Improvement of accuracy of pancreatic cancer diagnosis based on detection of k-ras, p16 and p53 point mutations and 9p and 18q allelic deletions.
Improvement of accuracy of pancreatic cancer diagnosis based on detection of k-ras, p16 and p53 point mutations and 9p and 18q allelic deletions....
FD - Onkologie a hematologie
- 2007 •
- A
Rok uplatnění
A - Audiovizuální tvorba
Cooccurring JAK2 V617F and R1063H mutations increase JAK2 signaling and neutrophilia in myeloproliferative neoplasms
of the second allele by uniparental disomy. In 3 patients the R1063H mutation was acquiredClinical consequences of driver mutations in myeloproliferative neoplasms (MPNs mutations. These patients exhibited signifi...
Hematology
- 2018 •
- Jimp •
- Odkaz
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
A new allelic discrimination assay using locked nucleic acid-modified nucleotides (LNA) probes for detection of JAK2 V617F mutation
A new allelic discrimination assay using LNA probes for detection of JAK2 V617F mutation was studied...
FD - Onkologie a hematologie
- 2007 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
- 1 - 10 z 16 174