(Q38002933)

26 August 2017

title

Noninvasive prenatal diagnosis of monogenic disorders (English)

1 reference

26 August 2017

author name string

Marta Rodríguez de Alba

1

1 reference

26 August 2017

Ana Bustamante-Aragonés

2

1 reference

26 August 2017

Sara Perlado

3

1 reference

26 August 2017

María José Trujillo-Tiebas

4

1 reference

26 August 2017

Joaquín Díaz-Recasens

5

1 reference

26 August 2017

Javier Plaza-Arranz

6

1 reference

26 August 2017

Carmen Ramos

7

1 reference

26 August 2017

language of work or name

English

0 references

publication date

16 April 2012

1 reference

Expert Opinion on Biological Therapy

26 August 2017

published in

1 reference

26 August 2017

volume

12 Suppl 1

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26 August 2017

page(s)

S171-9

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

26 August 2017

1 reference

Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal diagnosis of Duchenne muscular dystrophy using a single fetal nucleated erythrocyte in maternal blood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Size distributions of maternal and fetal DNA in maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Epigenetic-genetic chromosome dosage approach for fetal trisomy 21 detection using an autosomal genetic reference marker

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Plasma nucleic acid analysis by massively parallel sequencing: pathological insights and diagnostic implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal diagnosis of the fetal RhD blood type using a single fetal nucleated erythrocyte from maternal blood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal diagnosis using cell-free nucleic acids in maternal body fluids: a decade of progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Improvement in fetal DNA extraction from maternal plasma. Evaluation of the NucliSens Magnetic Extraction system and the QIAamp DSP Virus Kit in comparison with the QIAamp DNA Blood Mini Kit.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Fetal DNA: strategies for optimal recovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Methods to Increase the Percentage of Free Fetal DNA Recovered From the Maternal Circulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Digital PCR for the molecular detection of fetal chromosomal aneuploidy

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Non-invasive fetal sex determination: impact on clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Reliability of fetal sex determination using maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal diagnosis of Huntington disease in maternal plasma: direct and indirect study

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive prenatal diagnosis of early onset primary dystonia I in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Development and application of a real-time quantitative PCR for prenatal detection of fetal alpha(0)-thalassemia from maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive prenatal diagnosis of monogenic diseases by digital size selection and relative mutation dosage on DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Size fractionation of cell-free DNA in maternal plasma improves the detection of a paternally inherited beta-thalassemia point mutation by MALDI-TOF mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Development of a PCR/LDR/capillary electrophoresis assay with potential for the detection of a beta-thalassemia fetal mutation in maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

ESHRE PGD consortium best practice guidelines for organization of a PGD centre for PGD/preimplantation genetic screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

Prenatal exclusion of β thalassaemia major by examination of maternal plasma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F14712598.2012.674509

10.1517/14712598.2012.674509

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference