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List of works by 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

scientific article published on 24 January 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.

scientific article published on 16 November 2016

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

scientific article published on 13 February 2018

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

scientific article

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

scientific article

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

scientific article published on 06 November 2019

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

scientific article published on 29 May 2014

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

scientific article published in February 2018

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

scientific article

Chromosome microarrays in diagnostic testing: interpreting the genomic data.

scientific article

Chromosome translocations in couples with in-vitro fertilization implantation failure

scientific article published on 01 August 1999

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

scientific article published in November 1997

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

scientific article published on 20 October 2015

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

scientific article

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

scientific article published in 2022

Exceptional complex chromosomal rearrangements in three generations

scientific article

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

scientific article

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

scientific article published on 18 August 2020

Haplotyping the human leukocyte antigen system from single chromosomes.

scientific article published on 27 July 2016

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

scientific article published on 02 March 2020

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

scientific article published in May 2006

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

scientific article published on 01 December 2006

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

scientific article published on 05 October 2020

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

scientific article published on 13 June 2018

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

scientific article

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

scientific article published on 06 July 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?

scientific article

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

scientific article published on 01 June 2016

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

scientific article published on 24 December 2014

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

scientific article

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

scientific article published on 09 July 2016

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

scientific article published on 04 February 2014

Monozygotic twins with discordant karyotypes: a case report.

scientific article

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

scientific article published on 6 February 2018

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

scientific article

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

scientific article published on 01 February 1997

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

scientific article

Questionable pathogenicity of FOXG1 duplication.

scientific article published on 18 January 2012

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

scientific article published on 8 September 2009

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

scientific article published on August 2017

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

scientific article published on 26 October 2017

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

scientific article published on 17 October 2019

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

scientific article published on 06 November 2019

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

scientific article published on 01 January 1998

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

scientific article published on 21 July 2010

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

scientific article published on 01 July 2005

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