Filters
Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia
variants in coding regions. We identified 45 rare haplotypes (>1 cM) that wereGenome-wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk va...
Biological sciences
- 2019 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Classification of germline variants identified in cancer predisposition genetic testing - consensus of the CZECANCA consortium
of variants identified. The correct classification of the variants found is essential is to summarise the rules for classifying identified variants within individual laboratories, the sharing of ident...
Oncology
- 2023 •
- JSC •
- Link
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Classification of germline variants identified in cancer predisposition genetic testing – consensus of the CZECANCA consortium
of variants identified. The correct classification of the variants found is essential is to summarise the rules for classifying identified variants within individual laboratories, the sharing of ident...
Oncology
- 2023 •
- JSC •
- Link
Rok uplatnění
JSC - Článek v periodiku v databázi SCOPUS
Výsledek na webu
Familial early-onset hyperuricemia and gout associated with a newly identified dysfunctional variant in urate transporter ABCG2
We identified a novel functionally null variant p.I242T of ABCG2 transporter that related to the development of early onset of hyperuricemia/gout in a European pedigree....
Rheumatology
- 2019 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Whole Exome Sequencing Identifies APCDD1 and HDAC5 Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer
- to moderate-penetrance germline variants that are not explored. With the aim of identifying such potential cancer-predisposing variants, we performed whole exome and identified two novel heterozygous variants...
Oncology
- 2021 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding
Apolipoprotein AV; six APOA5 variants; patients with severe hypertriglyceridemia...
FA - Kardiovaskulární nemoci včetně kardiochirurgie
- 2008 •
- Jx
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
common variants were identified: rs10791286, an intronic variant in OPCML (P=9.89 variant associations were identified at genome-wide significance, although the study, only one genome-wide significant loc...
Psychiatry
- 2018 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
A rare large duplication of MLH1 identified in Lynch syndrome
: Three families were identified with a pathogenic/likely pathogenic germline variant codon at amino acid 491. In family C, we identified a splice site variant in MSH2BACKGROUND: The most frequently identified<...
Oncology
- 2021 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
Variants of human chromosomes and their significance from the point of view of clinical genetics
Our study presents the overview of chromosomal variants that can be identified during standard karyotype examination. We discuss the origin of each of the variants and their clinical significance....
EB - Genetika a molekulární biologie
- 2012 •
- Jx •
- Link
Rok uplatnění
Jx - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)
Výsledek na webu
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder
Objective: To examine the role of genes identified through genome-wide behavior disorder (iRBD). Methods: We fully sequenced 25 genes previously identified of rare heterozygous variants in these genes was examined with burd...
Neurosciences (including psychophysiology)
- 2021 •
- Jimp •
- Link
Rok uplatnění
Jimp - Článek v periodiku v databázi Web of Science
Výsledek na webu
- 1 - 10 out of 72 683