Detalhe da pesquisa
1.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat;
43(12): 2063-2078, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36125428
2.
Current Achievements and Applications of Transcriptomics in Personalized Cancer Medicine.
Int J Mol Sci;
22(3)2021 Jan 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33572595
3.
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20.
Fetal Pediatr Pathol;
38(3): 245-256, 2019 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30893560
4.
Personalized medicine in oncology. New perspectives in management of gliomas.
Contemp Oncol (Pozn);
22(1A): 1-2, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29628786
5.
Association of the vitamin D receptor FokI gene polymorphism with sex- and non-sex-associated cancers: A meta-analysis.
Tumour Biol;
39(10): 1010428317727164, 2017 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29034815
6.
Fragile X syndrome in females - a familial case report and review of the literature.
Dev Period Med;
20(2): 99-104, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27442693
7.
Hexasomy 13q31.3q34 due to two marker chromosomes with inverted duplication in a fetus with increased nuchal translucency.
Birth Defects Res A Clin Mol Teratol;
103(4): 255-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25852029
8.
[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases]. / Szybka diagnostyka najczestszych aneuploidii u plodu meaoda QF-PCR--analiza 100 przypadków.
Ginekol Pol;
86(9): 694-9, 2015 Sep.
Artigo
em Polonês
| MEDLINE
| ID: mdl-26665572
9.
Vitamin D receptor gene polymorphisms in relation to the risk of colorectal cancer in the Polish population.
Tumour Biol;
35(12): 12397-401, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25195132
10.
[Non-invasive fetal trisomy (NIFTY) test in prenatal diagnosis]. / Nieinwazyjny test NIFTY w diagnostyce najczestszych trisomii chromosomowych u plodu.
Ginekol Pol;
85(4): 300-3, 2014 Apr.
Artigo
em Polonês
| MEDLINE
| ID: mdl-24834709
11.
Relationship in development of malocclusions to polymorphisms of selected vitamin D receptors.
Adv Clin Exp Med;
2024 Feb 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38353502
12.
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Kardiol Pol;
82(5): 569-593, 2024.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38712785
13.
Protein tyrosine phosphatase receptor-like genes are frequently hypermethylated in sporadic colorectal cancer.
J Hum Genet;
58(1): 11-5, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23096495
14.
[New molecular methods in prenatal invasive diagnostics]. / Nowoczesne metody molekularne w prenatalnej diagnostyce inwazyjnej.
Ginekol Pol;
84(10): 871-6, 2013 Oct.
Artigo
em Polonês
| MEDLINE
| ID: mdl-24273910
15.
Copy Number Variations and Schizophrenia.
Mol Neurobiol;
60(4): 1854-1864, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36580197
16.
Fast and reliable Sanger POLE sequencing protocol in FFPE tissues of endometrial cancer.
Pathol Res Pract;
242: 154315, 2023 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36738508
17.
Assessment of chromosomal imbalances in CIMP-high and CIMP-low/CIMP-0 colorectal cancers.
Tumour Biol;
33(4): 1015-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22274926
18.
The C/A polymorphism in intron 11 of the XPC gene plays a crucial role in the modulation of an individual's susceptibility to sporadic colorectal cancer.
Mol Biol Rep;
39(1): 527-34, 2012 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21559836
19.
Machine-learning-based Analysis Identifies miRNA Expression Profile for Diagnosis and Prediction of Colorectal Cancer: A Preliminary Study.
Cancer Genomics Proteomics;
19(4): 503-511, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35732322
20.
Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.
Front Genet;
13: 941375, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36171877