Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

scientific article published on 25 January 2017

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/EJHG.2016.195
P932PMC publication ID5386415
P698PubMed publication ID28120840

P50authorMichael ParksQ38361090
P2093author name stringFiona MacDonald
Trevor Cole
Denise Williams
Julie Hewitt
Mike Griffiths
Samantha Court
Siobhan Cleary
Stephanie Allen
Samuel Clokie
Benjamin Bowns
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Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yieldQ28744238
Identification and characterization of a spinal muscular atrophy-determining geneQ29547495
Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasmaQ33360224
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasmaQ33682367
Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative womenQ33917070
Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysisQ34028063
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation studyQ34029044
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingQ34256640
Best practice guidelines for molecular analysis in spinal muscular atrophyQ34314037
Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testingQ34433169
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Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.Q36354562
Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosageQ36895493
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Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasmaQ37010246
Non-invasive prenatal diagnosis and determination of fetal Rh statusQ37077064
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Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA.Q45026733
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Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast.Q51767524
The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies.Q54708648
Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the FetusQ56937251
Presence of fetal DNA in maternal plasma and serumQ57075132
Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United KingdomQ57839586
Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasiaQ74446351
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculationsQ80833713
Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical settingQ83395075
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Technical standards and guidelines for spinal muscular atrophy testingQ84362191
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue4
P921main subjectspinal muscular atrophyQ580290
muscular atrophyQ2844600
P304page(s)416-422
P577publication date2017-01-25
P1433published inEuropean Journal of Human GeneticsQ2155433
P1476titleNon-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
P478volume25

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cites work (P2860)
Q90297790Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy
Q98475414Evaluation of Beta -Thalassemia in the Fetus through cffDNA with Multiple Polymorphisms as a Haplotype in the Beta-Globin Gene
Q90467894Fast 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
Q47423413Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
Q50051267Non-invasive prenatal testing for fetal inheritance of maternal β-thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study
Q89556540Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA
Q90366836Noninvasive prenatal diagnosis of β-thalassemia by relative haplotype dosage without analyzing proband
Q47900162Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
Q89501954The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study
Q47191639cfDNA screening and diagnosis of monogenic disorders - where are we heading?

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