Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

scientific article

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1196/ANNALS.1368.014
P698PubMed publication ID17108199

P50authorCarmen AyusoQ43117839
P2093author name stringCarmen Ramos
Isabel Lorda-Sanchez
Cristina Gonzalez-Gonzalez
M Jose Trujillo-Tiebas
Maria Garcia-Hoyos
Ana Bustamante-Aragones
Dan Diego-Alvarez
Marta Rodriguez DE Alba
P2860cites workPositional cloning of the gene for X-linked retinitis pigmentosa 2Q24322014
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28Q28265989
Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.Q34385131
Cell-free DNA and RNA in plasma as new tools for molecular diagnosticsQ35589313
Circulating fetal DNA: its origin and diagnostic potential-a reviewQ35699978
Cell-free fetal DNA in maternal blood: kinetics, source and structureQ35966472
Increased total cell-free DNA in the serum of pregnant women carrying a fetus affected by trisomy 21.Q38451572
Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.Q40440447
Replicate real-time PCR testing of DNA in maternal plasma increases the sensitivity of non-invasive fetal sex determinationQ45859237
Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasmaQ47391690
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case reportQ47399906
Size separation of circulatory DNA in maternal plasma permits ready detection of fetal DNA polymorphismsQ47423342
Fetal RhD genotyping by maternal serum analysis: a two-year experience.Q54677407
Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal CirculationQ56001879
Fetal DNA detection in maternal plasma throughout gestationQ56836344
Presence of fetal DNA in maternal plasma and serumQ57075132
Elevation of both maternal and fetal extracellular circulating deoxyribonucleic acid concentrations in the plasma of pregnant women with preeclampsiaQ57671390
P407language of work or nameEnglishQ1860
P921main subjectautomationQ184199
P304page(s)108-117
P577publication date2006-09-01
P1433published inAnnals of the New York Academy of SciencesQ2431664
P1476titleDetection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.
P478volume1075

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cites work (P2860)
Q37101212A view on clinical genetics and genomics in Spain: of challenges and opportunities
Q36803713Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.
Q45875805Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers
Q38002933Noninvasive prenatal diagnosis of monogenic disorders
Q37705437Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art.
Q38099617The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made

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