Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
about
Congenital Adrenal HyperplasiaThe accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis.Plasma DNA tissue mapping by genome-wide methylation sequencing for noninvasive prenatal, cancer, and transplantation assessmentsExperts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015).Adrenal steroidogenesis and congenital adrenal hyperplasia.Simple, multiplexed, PCR-based barcoding of DNA enables sensitive mutation detection in liquid biopsies using sequencingThe next 150 years of congenital adrenal hyperplasia.Nonclassical Congenital Adrenal Hyperplasia and Pregnancy.Simple multiplexed PCR-based barcoding of DNA for ultrasensitive mutation detection by next-generation sequencing.Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.Recent advances of genomic testing in perinatal medicineDevelopment of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCRSecond generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends.Bioinformatics Approaches for Fetal DNA Fraction Estimation in Noninvasive Prenatal Testing.Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.Implementation of whole genome massively parallel sequencing for noninvasive prenatal testing in laboratories.Disorders of sex development: effect of molecular diagnostics.Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNAThe impact of digital DNA counting technologies on noninvasive prenatal testing.Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone.Future Science Prize goes to non-invasive prenatal testing.Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriersCOFFEE: control-free noninvasive fetal chromosomal examination using maternal plasma DNA.A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA.Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA.cfDNA screening and diagnosis of monogenic disorders - where are we heading?CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11β-hydroxysteroid dehydrogenase type 2 deficiency.Cost-effective and accurate method of measuring fetal fraction using SNP imputation.Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population.Haplotype-based Noninvasive Prenatal Diagnosis of Hyperphenylalaninemia through Targeted Sequencing of Maternal Plasma.One-step noninvasive prenatal testing (NIPT) for autosomal recessive homozygous point mutations using digital PCR.Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment.Congenital Adrenal Hyperplasia.
P2860
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P2860
Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma.
description
2014 nî lūn-bûn
@nan
2014 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@ast
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@en
type
label
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@ast
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@en
prefLabel
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@ast
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@en
P2093
P2860
P356
P1476
Noninvasive prenatal diagnosis ...... fetal DNA in maternal plasma.
@en
P2093
Ahmed Khattab
Christian Pina
Gary J W Liao
K C Allen Chan
Maria I New
Mone Zaidi
Peiyong Jiang
Rossa W K Chiu
P2860
P304
P356
10.1210/JC.2014-1118
P407
P577
2014-02-28T00:00:00Z