|
rs77375493
|
|
Congenital chromosomal disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes.
|
23115274 |
2013 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
We investigated the influence of tobacco smoke on cytogenetic parameters (chromosomal aberrations and micronuclei) and the influence of XRCC1 arg399gln polymorphism on the cytogenetic parameters of the exposed subjects.
|
21843798 |
2011 |
|
rs1131691041
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs1057520007
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs371769427
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We infer that U2AF1 S34 mutations characterize a distinct subgroup of MDS: younger age of onset and differential associations with particular cytogenetic aberrations depending on specific mutations [S34Y to +8; S34F to +8 and del(20q)].
|
28938223 |
2017 |
|
rs3087468
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We demonstrate that expression of the D239Y variant in cells also expressing wild-type NTH1 leads to genomic instability and cellular transformation as assessed by anchorage-independent growth, focus formation, invasion, and chromosomal aberrations.
|
23940330 |
2013 |
|
rs773629528
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1486253194
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs749251734
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1395746092
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs774690269
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs1431381385
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs25487
|
|
Congenital chromosomal disease
|
|
0.060 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs759412116
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs2228001
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs17655
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs13181
|
|
Congenital chromosomal disease
|
|
0.030 |
GeneticVariation
|
BEFREE |
We analysed the associations between genetic polymorphisms in genes coding for DNA repair enzymes XPD (exon 23 A --> C, K751Q), XPG (exon 15 G --> C, D1104H), XPC (exon 15 A --> C, K939Q), XRCC1 (exon 10 G --> A, R399Q) and XRCC3 (exon 7 C --> T, T241 M) and the levels of chromosomal aberrations (CAs) and single-strand breaks (SSBs) in peripheral lymphocytes in a central European population.
|
14729591 |
2004 |
|
rs77375493
|
|
Congenital chromosomal disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
|
21376394 |
2011 |
|
rs150547487
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The study has revealed that the global minor allele, SLX4(Y546C), is defective in this interaction and cannot complement Fancp knockout mouse cells in mitomycin C-induced cytotoxicity or chromosomal aberrations.
|
26453996 |
2015 |
|
rs878854066
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism.
|
22892830 |
2012 |
|
rs1131691014
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism.
|
22892830 |
2012 |
|
rs1042522
|
|
Congenital chromosomal disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
The present study aimed to examine the frequency of chromosomal aberrations and the mitotic index in patients with chronic hepatitis B and their possible association with p53 gene exon 4 codon 72 Arg72Pro (Ex4+119 G>C; rs1042522) polymorphism.
|
22892830 |
2012 |
|
rs1372047743
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The mutagenic effects of phospho-Ku70 are documented by a defective S/G2 checkpoint, accelerated disappearance of γ-H2AX foci and kinetics of DNA repair resulting in an increased level of genotoxic stress-induced chromosomal aberrations.
|
26337656 |
2015 |
|
rs121965059
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |
|
rs1217691063
|
|
Congenital chromosomal disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous (T/T) C677T polymorphism of the MTHFR gene was present at a statistically high significance in unexplained infertile men with normal karyotype, instead at no significance in explained infertile men with chromosomal abnormality or Y chromosome deletion.
|
16247718 |
2005 |