scholarly article | Q13442814 |
P50 | author | Thessalia Papasavva | Q90467891 |
P2093 | author name string | G Mike Makrigiorgos | |
Marina Kleanthous | |||
Stefania Byrou | |||
Ioannis Kallikas | |||
Agathoklis Christofides | |||
P2860 | cites work | Amniocentesis and chorionic villus sampling for prenatal diagnosis | Q24247990 |
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma | Q24649847 | ||
Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal Plasma | Q28314918 | ||
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study | Q30414408 | ||
Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience | Q88019853 | ||
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma | Q33360224 | ||
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma | Q33682367 | ||
Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women | Q33917070 | ||
COLD-PCR enrichment of rare cancer mutations prior to targeted amplicon resequencing | Q34109720 | ||
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. | Q34385131 | ||
Prenatal sex determination by DNA amplification from maternal peripheral blood | Q34465871 | ||
Enrichment of mutations in multiple DNA sequences using COLD-PCR in emulsion | Q34510937 | ||
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases | Q34581056 | ||
Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing | Q34769683 | ||
COLD-PCR: improving the sensitivity of molecular diagnostics assays | Q35036964 | ||
A rapid molecular approach for chromosomal phasing | Q35147393 | ||
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis | Q35209735 | ||
Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus | Q35977052 | ||
Temperature-tolerant COLD-PCR reduces temperature stringency and enables robust mutation enrichment | Q36163750 | ||
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. | Q36311237 | ||
Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage | Q36895493 | ||
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study. | Q36919255 | ||
Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma | Q37000915 | ||
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia. | Q37316945 | ||
Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center | Q37354838 | ||
Elimination of unaltered DNA in mixed clinical samples via nuclease-assisted minor-allele enrichment | Q37401069 | ||
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage | Q37745036 | ||
Fetal DNA in maternal plasma: a noninvasive tool for prenatal diagnosis of beta-thalassemia. | Q38002921 | ||
Detection of KRAS mutations in colorectal cancer with Fast COLD-PCR. | Q39463278 | ||
Digital PCR analysis of maternal plasma for noninvasive detection of sickle cell anemia | Q40028010 | ||
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia. | Q40057027 | ||
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia | Q40350792 | ||
The changing epidemiology of β-thalassemia in the Greek-Cypriot population | Q46247158 | ||
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping | Q47900162 | ||
Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders, and recommendations for best practice. | Q48368908 | ||
Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study. | Q51368842 | ||
COLD-PCR and microarray: two independent highly sensitive approaches allowing the identification of fetal paternally inherited mutations in maternal plasma. | Q52883296 | ||
Thalassaemia: the long road from bedside to genome. | Q53334769 | ||
Non-invasive prenatal diagnostic testing for β-thalassaemia using cell-free fetal DNA and next generation sequencing. | Q54184929 | ||
Rapid and sensitive detection of KRAS mutation after fast-COLD-PCR enrichment and high-resolution melting analysis. | Q54375389 | ||
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus | Q56937251 | ||
Presence of fetal DNA in maternal plasma and serum | Q57075132 | ||
A minimal set of SNPs for the noninvasive prenatal diagnosis of β-thalassaemia | Q86014130 | ||
P275 | copyright license | Creative Commons CC0 License | Q6938433 |
P6216 | copyright status | copyrighted, dedicated to the public domain by copyright holder | Q88088423 |
P433 | issue | 7 | |
P304 | page(s) | e0200348 | |
P577 | publication date | 2018-07-25 | |
P1433 | published in | PLOS One | Q564954 |
P1476 | title | Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia | |
P478 | volume | 13 |
Q102152274 | Detection of cell-free foetal DNA fraction in female-foetus bearing pregnancies using X-chromosomal insertion/deletion polymorphisms examined by digital droplet PCR | cites work | P2860 |
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