about
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnanciesLoss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesCell specific patterns of methylation in the human placenta.Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysisGrowth regulation, imprinted genes, and chromosome 11p15.5.Anthropometric predictors of body fat in a large population of 9-year-old school-aged childrenCarrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications.Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation.Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.Contingent screening for Down syndrome--results from the FaSTER trial.Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms.The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure.Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies.Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis.Association between LEPR, FTO, MC4R, and PPARG-2 polymorphisms with obesity traits and metabolic phenotypes in school-aged children.Anthropometric features as predictors of atherogenic dyslipidemia and cardiovascular risk in a large population of school-aged children.Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell linesScreening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndromeThe evolution of fetal presentation during pregnancy: a retrospective, descriptive cross-sectional studyResponse to Toutain et alOutcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNANoninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Jose Carlos Ferreira
@ast
Jose Carlos Ferreira
@en
Jose Carlos Ferreira
@es
Jose Carlos Ferreira
@nl
type
label
Jose Carlos Ferreira
@ast
Jose Carlos Ferreira
@en
Jose Carlos Ferreira
@es
Jose Carlos Ferreira
@nl
prefLabel
Jose Carlos Ferreira
@ast
Jose Carlos Ferreira
@en
Jose Carlos Ferreira
@es
Jose Carlos Ferreira
@nl
P106
P1153
7403252218
P21
P31
P496
0000-0003-0517-8230