Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
about
Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant womenChromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011-2015.Introducing the non-invasive prenatal test for trisomy 21 in Belgium: a cost-consequences analysisPrenatal screening of cytogenetic anomalies - a Western Indian experienceNoninvasive screening tools for Down syndrome: a review.Noninvasive prenatal testing in routine clinical practice for a high-risk population: Experience from a center.Higher limb asymmetry in deceased human fetuses and infants with aneuploidy.Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery.Socially repugnant or the standard of care: Is there a distinction between sex-selective and ability-selective abortion?Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases.Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?The clinical utility of genome-wide non invasive prenatal screening.Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.Noninvasive prenatal testing for aneuploidy using cell-free DNA - New implications for maternal health.A population-based study of prevalence of Down syndrome in Southern Thailand.Prenatal screening costs at a large military treatment facility.Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties (Romania).Prenatal sonographic features of triploidy at 12-16 weeks.Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestations.The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns.Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center.Socialement répugnant ou norme de soins: Y a-t-il une distinction entre l’avortement sélectif en fonction du sexe ou de la capacité?An overview of concepts and approaches used in estimating the burden of congenital disorders globally.Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide.The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos.Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.The Chromosome 18 Clinical Resource Center.The outcomes of 31 cases of trisomy 13 diagnosed in utero with various management options.Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.Antenatal screening for Down Syndrome and other chromosomal abnormalities: increasingly complex issues.Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.Derivative chromosomes involving 5p large rearranged segments went unnoticed with the use of conventional cytogenetics.
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P2860
Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
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2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@ast
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@en
type
label
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@ast
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@en
prefLabel
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@ast
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@en
P2093
P2860
P356
P1476
Rare chromosome abnormalities, ...... al anomaly registers in Europe
@en
P2093
Anke Rissmann
Berenice Doray
Carmel Mullaney
David Tucker
Diana Wellesley
Elisa Calzolari
Ester Garne
Helen Dolk
Joaquin Salvador
Judith Rankin
P2860
P2888
P304
P356
10.1038/EJHG.2011.246
P577
2012-01-11T00:00:00Z