Detalles de la búsqueda
1.
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing.
Int J Mol Sci
; 24(14)2023 Jul 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37511593
2.
Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
Clin Chem
; 62(6): 848-55, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27117469
3.
Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions.
Genet Res (Camb)
; 98: e15, 2016 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27834155
4.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Hum Mol Genet
; 20(10): 1925-36, 2011 May 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-21349920
5.
Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.
Oncol Lett
; 25(1): 38, 2023 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-36589665
6.
MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21.
Prenat Diagn
; 32(10): 996-1001, 2012 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22833530
7.
Proof-of-Concept Pilot Study on Comprehensive Spatiotemporal Intra-Patient Heterogeneity for Colorectal Cancer With Liver Metastasis.
Front Oncol
; 12: 855463, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35402285
8.
Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern.
Viruses
; 15(1)2022 12 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36680148
9.
A Comprehensive Molecular Epidemiological Analysis of SARS-CoV-2 Infection in Cyprus from April 2020 to January 2021: Evidence of a Highly Polyphyletic and Evolving Epidemic.
Viruses
; 13(6)2021 06 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34207490
10.
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.
Cancers (Basel)
; 13(2)2021 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33429865
11.
Development of a new methylation-based fetal fraction estimation assay using multiplex ddPCR.
Mol Genet Genomic Med
; 8(2): e1094, 2020 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-31821748
12.
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test.
Mol Cytogenet
; 12: 34, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31338126
13.
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Mol Cytogenet
; 12: 48, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31832098
14.
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
Eur J Med Genet
; 51(1): 61-7, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-17998173
15.
Author's response regarding "MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility".
Prenat Diagn
; 33(4): 404-5, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23553406
16.
MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT.
PLoS One
; 13(6): e0199010, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29889893
17.
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications.
PLoS One
; 12(2): e0171319, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28158220
18.
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
J Genet
; 95(4): 839-845, 2016 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-27994182
19.
The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis.
Genes (Basel)
; 5(2): 310-29, 2014 Apr 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-24722507
20.
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS.
Mol Cytogenet
; 7(1): 73, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-25426166