Detalhe da pesquisa
1.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Hum Mol Genet;
27(21): 3669-3674, 2018 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30124836
2.
Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?
Genet Res (Camb);
102: e6, 2020 08 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32772980
3.
Transcriptomic Profiling for the Autophagy Pathway in Colorectal Cancer.
Int J Mol Sci;
21(19)2020 Sep 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32993062
4.
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
BMC Med Genet;
19(1): 12, 2018 01 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29351780
5.
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
6.
Genetic Factors Involved in Mandibular Prognathism.
J Craniofac Surg;
28(5): e422-e431, 2017 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28570402
7.
Reduced number of peripheral natural killer cells in schizophrenia but not in bipolar disorder.
Brain Behav Immun;
54: 194-200, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26872421
8.
Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.
Am J Med Genet A;
170(12): 3265-3270, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27605359
9.
Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.
Birth Defects Res A Clin Mol Teratol;
106(4): 304-7, 2016 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26879631
10.
[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
11.
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
12.
A set of specific miRNAs is connected with murine and human gastric cancer.
Genes Chromosomes Cancer;
52(3): 237-49, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23124995
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.
Chromosome aberrations and gene mutations in patients with esophageal atresia.
J Pediatr Gastroenterol Nutr;
57(6): 688-93, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23857338
15.
Basal cell carcinoma of the skin: whole genome screening by comparative genome hybridization revisited.
J Cutan Pathol;
40(1): 25-9, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23072482
16.
Genetic data protection as an indispensable element of genomic medicine development.
Pol Arch Intern Med;
133(2)2023 02 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36779516
17.
Assessment of three epigenotypes in colorectal cancer by combined bisulfite restriction analysis.
Mol Carcinog;
51(12): 1003-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22006538
18.
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
19.
Major Histocompatibility Complex Genes as Therapeutic Opportunity for Immune Cold Molecular Cancer Subtypes.
J Immunol Res;
2020: 8758090, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33282963
20.
Expression Analysis of Tyrosine Phosphatase Genes at Different Stages of Renal Cell Carcinoma.
Anticancer Res;
40(10): 5667-5671, 2020 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32988891