List of works - Jose Carlos Ferreira

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

scientific article

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

scientific article published on 27 April 2008

Anthropometric features as predictors of atherogenic dyslipidemia and cardiovascular risk in a large population of school-aged children.

scientific article

Anthropometric predictors of body fat in a large population of 9-year-old school-aged children

scientific article published on 20 July 2016

Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms

scientific article published in April 2011

Association between LEPR, FTO, MC4R, and PPARG-2 polymorphisms with obesity traits and metabolic phenotypes in school-aged children.

scientific article published on 20 April 2018

Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

scientific article published on 05 February 2014

Cell specific patterns of methylation in the human placenta.

scientific article

Contingent screening for Down syndrome--results from the FaSTER trial.

scientific article published in February 2008

Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation.

scientific article published on October 2012

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

scientific article

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

article

Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results.

scientific article published on 13 February 2014

Frequency of fetal karyotype abnormalities in women undergoing invasive testing in the absence of ultrasound and other high-risk indications.

scientific article published on 21 October 2016

Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis.

scientific article published in August 2002

Growth regulation, imprinted genes, and chromosome 11p15.5.

scientific article published on May 2007

Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies.

scientific article published on 11 August 2017

Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?

article

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Mutations in multiple PKD genes may explain early and severe polycystic kidney disease

scientific article

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

scientific article published on 08 August 2019

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

scientific article published on 31 January 2012

Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.

scientific article

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

scientific article

Response to Toutain et al

scientific article published on 01 October 2019

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

scientific article published on 01 November 2009

Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.

scientific article published on 4 January 2011

The evolution of fetal presentation during pregnancy: a retrospective, descriptive cross-sectional study

scientific article published on 25 March 2015

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

scientific article

List of works by Jose Carlos Ferreira

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

Anthropometric features as predictors of atherogenic dyslipidemia and cardiovascular risk in a large population of school-aged children.

Anthropometric predictors of body fat in a large population of 9-year-old school-aged children

Assessment of methylation level prediction accuracy in methyl-DNA immunoprecipitation and sodium bisulfite based microarray platforms

Association between LEPR, FTO, MC4R, and PPARG-2 polymorphisms with obesity traits and metabolic phenotypes in school-aged children.

Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze.

Cell specific patterns of methylation in the human placenta.

Contingent screening for Down syndrome--results from the FaSTER trial.

Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation.

Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11

EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines

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.

Gene expression profile of trisomy 21 placentas: a potential approach for designing noninvasive techniques of prenatal diagnosis.

Growth regulation, imprinted genes, and chromosome 11p15.5.

Implications of fetoplacental mosaicism on cell-free DNA testing for sex chromosome aneuploidies.

Is there a nuchal translucency millimeter measurement above which there is no added benefit from first trimester serum screening?

Loss-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

Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis

Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Response to Toutain et al

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome

Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.

The evolution of fetal presentation during pregnancy: a retrospective, descriptive cross-sectional study

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure