Lista de obras - Mark D Pertile - Dominio Público Uruguay

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications

artículo científico publicado en 2019

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing

scientific article published on 06 February 2019

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

artículo científico publicado en 2016

A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin.

artículo científico publicado en 2018

A novel combination of homeobox genes is expressed in mesenchymal chorionic stem/stromal cells in first trimester and term pregnancies

artículo científico publicado en 2014

Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening.

artículo científico publicado en 2016

Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany

scientific article published on 01 October 2019

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016

artículo científico publicado en 2019

Bilateral congenital adrenal agenesis: a rare disease entity and not a result of poor autopsy technique.

artículo científico

CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

artículo científico publicado en 2018

Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.

artículo científico publicado en 2016

Chromosome microarrays in diagnostic testing: interpreting the genomic data.

artículo científico publicado en 2014

Chromosome translocations in couples with in-vitro fertilization implantation failure

artículo científico publicado en 1999

Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome.

artículo científico publicado en 1997

Ectopic Bone Formation by Mesenchymal Stem Cells Derived from Human Term Placenta and the Decidua

artículo científico publicado en 2015

Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta.

artículo científico publicado en 2016

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

artículo científico publicado en 2022

Exceptional complex chromosomal rearrangements in three generations

artículo científico publicado en 2015

First trimester detection of trisomy 16 using combined biochemical and ultrasound screening.

artículo científico publicado en 2013

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

artículo científico publicado en 2020

Haplotyping the human leukocyte antigen system from single chromosomes.

artículo científico publicado en 2016

Harmonizing cell-free DNA Collection and Processing Practices through Evidence-based Guidance

artículo científico publicado en 2020

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism.

artículo científico publicado en 2006

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy

artículo científico publicado en 2006

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

artículo científico publicado en 2020

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

artículo científico publicado en 2018

Isolation and Characterization of Mesenchymal Stem/Stromal Cells Derived from Human Third Trimester Placental Chorionic Villi and Decidua Basalis

artículo científico publicado en 2018

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

artículo científico publicado en 2015

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

artículo científico publicado en 2013

Mesenchymal Stem/Stromal Cells Derived From a Reproductive Tissue Niche Under Oxidative Stress Have High Aldehyde Dehydrogenase Activity

artículo científico publicado en 2016

Mesenchymal stem cells reside in a vascular niche in the decidua basalis and are absent in remodelled spiral arterioles

artículo científico publicado en 2014

Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells.

artículo científico publicado en 2008

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy

artículo científico publicado en 2016

Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature

artículo científico publicado en 2014

Monozygotic twins with discordant karyotypes: a case report.

artículo científico publicado en 2004

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

artículo científico publicado en 2018

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

artículo científico publicado en 2011

Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15

artículo científico publicado en 1997

Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound.

artículo científico publicado en 2003

Questionable pathogenicity of FOXG1 duplication.

artículo científico publicado en 2012

Rapid evolution of mouse Y centromere repeat DNA belies recent sequence stability

artículo científico publicado en 2009

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

artículo científico

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

artículo científico publicado en 2017

State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

artículo científico publicado en 2019

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

artículo científico publicado en 2019

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

artículo científico publicado en 1998

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome

artículo científico publicado en 2010

Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindreds

artículo científico publicado en 2005

Lista de obras de Mark D Pertile

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing

A Novel Mechanism for Human Cardiac Ankyrin-B Syndrome due to Reciprocal Chromosomal Translocation.

A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin.

A novel combination of homeobox genes is expressed in mesenchymal chorionic stem/stromal cells in first trimester and term pregnancies

Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: implications for cancer screening.

Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany

Association between timing of diagnosis of trisomy 21, 18, and 13 and maternal socio-economic status in Victoria, Australia: A population-based cohort study from 2015 to 2016

Bilateral congenital adrenal agenesis: a rare disease entity and not a result of poor autopsy technique.

CORRIGENDUM: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories.

Chromosome microarrays in diagnostic testing: interpreting the genomic data.

Chromosome translocations in couples with in-vitro fertilization implantation failure

Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome.

Ectopic Bone Formation by Mesenchymal Stem Cells Derived from Human Term Placenta and the Decidua

Establishment and characterization of fetal and maternal mesenchymal stem/stromal cell lines from the human term placenta.

Ethical issues associated with prenatal screening using non‐invasive prenatal testing for sex chromosome aneuploidy

Exceptional complex chromosomal rearrangements in three generations

First trimester detection of trisomy 16 using combined biochemical and ultrasound screening.

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

Haplotyping the human leukocyte antigen system from single chromosomes.

Harmonizing cell-free DNA Collection and Processing Practices through Evidence-based Guidance

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism.

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome

Isolation and Characterization of Mesenchymal Stem/Stromal Cells Derived from Human Third Trimester Placental Chorionic Villi and Decidua Basalis

Maternal mosaicism for a large segmental duplication of 18q as a secondary finding following non-invasive prenatal testing and implications for test accuracy

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

Mesenchymal Stem/Stromal Cells Derived From a Reproductive Tissue Niche Under Oxidative Stress Have High Aldehyde Dehydrogenase Activity

Mesenchymal stem cells reside in a vascular niche in the decidua basalis and are absent in remodelled spiral arterioles

Methylation of the adenomatous polyposis coli (APC) gene in human placenta and hypermethylation in choriocarcinoma cells.

Minimal impact of maternal intravenous immunoglobulin infusion on cell-free DNA sequencing for fetal aneuploidy

Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature

Monozygotic twins with discordant karyotypes: a case report.

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15

Prospective ranking of the sonographic markers for aneuploidy: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound.

Questionable pathogenicity of FOXG1 duplication.

Rapid evolution of mouse Y centromere repeat DNA belies recent sequence stability

Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study

The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome

Unstable Robertsonian translocations der(13;15)(q10;q10): heritable chromosome fission without phenotypic effect in two kindreds