Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.

scientific article published on 20 April 2012

Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/PD.3864
P698PubMed publication ID22517437
P5875ResearchGate publication ID224769860

P50authorCornelis L HarteveldQ67173014
P2093author name stringEgbert Bakker
Piero C Giordano
Supan Fucharoen
Marion Phylipsen
Elles M J Boon
Supawadee Yamsri
Diahann T S L Jansen
Emmely E Treffers
Warsha A Kanhai
P2860cites workUpdate on Procedure-Related Risks for Prenatal Diagnosis TechniquesQ22241937
Prenatal Diagnosis of Fetal RhD Status by Molecular Analysis of Maternal PlasmaQ28314918
Maldi-TOF mass spectrometry for analyzing cell-free fetal DNA in maternal plasmaQ33329576
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structuresQ34012321
Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysisQ34028063
Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity studyQ34482155
Application of coalescent methods to reveal fine-scale rate variation and recombination hotspotsQ34645709
Direct molecular haplotyping of long-range genomic DNA with M1-PCRQ35145745
PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysisQ35755768
Nonrandom association of polymorphic restriction sites in the β-globin gene clusterQ36274910
Non-invasive prenatal diagnosis and determination of fetal Rh statusQ37077064
Global epidemiology of haemoglobin disorders and derived service indicatorsQ37108897
The Population Genetics and Dynamics of the ThalassemiasQ37809333
Incidence of haemoglobinopathies in various populations - the impact of immigrationQ39063644
Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The NetherlandsQ43636017
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 updateQ44804715
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene clusterQ48405054
Reliability of fetal sex determination using maternal plasma.Q51596658
Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.Q54438535
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasmaQ56001882
Fetal DNA detection in maternal plasma throughout gestationQ56836344
Presence of fetal DNA in maternal plasma and serumQ57075132
Prenatal exclusion of β thalassaemia major by examination of maternal plasmaQ58029823
P433issue6
P921main subjectsickle-cell diseaseQ185034
beta thalassemiaQ3616632
P304page(s)578-587
P577publication date2012-04-20
P1433published inPrenatal DiagnosisQ15760059
P1476titleNon-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
P478volume32

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cites work (P2860)
Q92830732A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders
Q43982170Birth of children with severe β-thalassemia at a tertiary obstetric hospital: what are the reasons behind it?
Q91069740Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing
Q34345162Molecular genetic testing and the future of clinical genomics
Q35082758Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasma
Q37316945Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.
Q26827338Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects
Q50631143Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.
Q38770436Non-invasive prenatal diagnosis of β-thalassemia by detection of the cell-free fetal DNA in maternal circulation: a systematic review and meta-analysis.
Q35885009Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms
Q50051267Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study
Q44912114Noninvasive prenatal diagnosis experience in the Çukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and β-thalassemia in cell-free fetal DNA using high-resolution melting analysis
Q36290290Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays
Q38099423Prenatal and newborn screening for hemoglobinopathies
Q38594354Recent patents and technology transfer for molecular diagnosis of β-thalassemia and other hemoglobinopathies
Q37663023The Price of Mercy: Comment to the Paper Entitled "Prevention of Beta Thalassemia In Northern Israel - A Cost-Benefit Analysis" by Koren et Al. recently published in Mediterranean Journal of Hematology and Infectious Diseases
Q38099617The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

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