(Q35667141)

9 August 2017

1 reference

title

Chromosomal Mosaicism in Human Feto-Placental Development: Implications for Prenatal Diagnosis (English)

1 reference

9 August 2017

Francesca Romana Grati

series ordinal

1

1 reference

9 August 2017

24 July 2014

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Journal of Clinical Medicine

9 August 2017

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9 August 2017

3

1 reference

9 August 2017

3

1 reference

9 August 2017

809-837

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Creative Commons Attribution 4.0 International

9 August 2017

start time

24 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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12 July 2018

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Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization

12 July 2018

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12 July 2018

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Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples

12 July 2018

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Mosaic trisomy 2 at amniocentesis: prenatal diagnosis and molecular genetic analysis

12 July 2018

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Chromosomal microarray versus karyotyping for prenatal diagnosis

12 July 2018

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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies

12 July 2018

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Uniparental disomy: can SNP array data be used for diagnosis?

12 July 2018

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QF-PCR: application, overview and review of the literature

12 July 2018

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Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing

12 July 2018

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aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis

12 July 2018

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Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study

12 July 2018

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CCMG guidelines: prenatal and postnatal diagnostic testing for uniparental disomy

12 July 2018

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Uniparental disomy and human disease: an overview.

12 July 2018

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Cytogenetic contribution to uniparental disomy (UPD).

12 July 2018

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Chromosomal mosaicism goes global

12 July 2018

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Prenatal testing for uniparental disomy: indications and clinical relevance

12 July 2018

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Trophoblastic oxidative stress and the release of cell-free feto-placental DNA.

12 July 2018

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Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi.

12 July 2018

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Postnatal confirmation of prenatally diagnosed trisomy 20 mosaicism in a patient with linear and whorled nevoid hypermelanosis

12 July 2018

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Issues arising from the prenatal diagnosis of some rare trisomy mosaics--the importance of cryptic fetal mosaicism

12 July 2018

1 reference

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Clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 4.

12 July 2018

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Fetoplacental discrepancy involving structural abnormalities of chromosome 8 detected by prenatal diagnosis

12 July 2018

1 reference

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The role of imprinted genes in fetal growth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression

12 July 2018

1 reference

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American College of Medical Genetics statement of diagnostic testing for uniparental disomy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Pathogenesis of chromosomal mosaicism and its effect on early human development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Revised guidelines for the diagnosis of mosaicism in amniocytes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

A case of discordant related abnormal karyotypes from chorionic villi and amniocytes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

True trisomy 2 mosaicism in amniocytes and newborn liver associated with multiple system abnormalities

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

European collaborative research on mosaicism in CVS (EUCROMIC)--fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: a collaborative study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Uniparental disomy revisited: the first twelve years

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Origin of extraembryonic mesoderm in experimental animals: relevance to chorionic mosaicism in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Confined placental mosaicism and stillbirth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Current topic: confined placental mosaicism and intrauterine fetal development

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Bloom syndrome and maternal uniparental disomy for chromosome 15.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Confined placental mosaicism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Diagnosis of fetal trisomy 21 in first trimester

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

The European collaborative study on mosaicism in chorionic villus sampling: data from 1986 to 1987.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Spontaneous abortion and confined chromosomal mosaicism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

De novo small supernumerary marker chromosomes detected on 143,000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

QF-PCR as a substitute for karyotyping of cytotrophoblast for the analysis of chorionic villi: advantages and limitations from a cytogenetic retrospective audit of 44,727 first-trimester prenatal diagnoses.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

The introduction of arrays in prenatal diagnosis: a special challenge.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Referral patterns for microarray testing in prenatal diagnosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

The detection of chromosome anomalies by QF-PCR and residual risks as compared to G-banded analysis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Prenatal diagnosis of chromosome 4 mosaicism: prognostic role of cytogenetic, molecular, and ultrasound/MRI characterization.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Screening for aneuploidies of ten different chromosomes in two rounds of FISH: a short and reliable protocol.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Mosaicism in chorionic villus sampling: an analysis of incidence and chromosomes involved in 2612 consecutive cases

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

23 October 2018

1 reference

https://api.crossref.org/works/10.3390%2FJCM3030809

Presence of fetal DNA in maternal plasma and serum

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FJCM3030809

Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FJCM3030809

In case you missed it: thePrenatal Diagnosissection editors bring you the most significant advances of 2013

21 January 2018

1 reference

https://api.crossref.org/works/10.3390%2FJCM3030809

Mosaic trisomy 4: Long-term outcome on the first reported liveborn

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection

23 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4449651

Reevaluating confined placental mosaicism

7 December 2018

1 reference

12 December 2020

Detection of low-level mosaicism by array CGH in routine diagnostic specimens

1 reference

12 December 2020

Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X

1 reference

12 December 2020

A Canadian collaborative study of mosaicism in amniotic fluid cell cultures

1 reference

12 December 2020

Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes

1 reference

12 December 2020

The role of cordocentesis in assessment of mosaicism found in amniotic fluid cell culture

1 reference

12 December 2020

False-negative trisomy 18 non-invasive prenatal test result due to 48,XXX,+18 placental mosaicism

1 reference

12 December 2020

Cytogenetic results from the U.S. Collaborative Study on CVS

1 reference

12 December 2020

Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms

1 reference

12 December 2020

Medical Research Council European trial of chorion villus sampling. MRC working party on the evaluation pf chorion villus sampling

1 reference

12 December 2020

Outcome of pregnancies with trisomy 2 cells in chorionic villi

1 reference

12 December 2020

Two years' prospective experience using fluorescence in situ hybridization on uncultured amniotic fluid cells for rapid prenatal diagnosis of common chromosomal aneuploidies

1 reference

12 December 2020

Canadian multicenter randomized clinical trial of chorion villus sampling and amniocentesis. chromosome mosaicism in CVS and amniocentesis samples

1 reference

12 December 2020

Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction

1 reference

12 December 2020

Rapid confirmation of previously detected prenatal mosaicism by fluorescence in situ hybridization in interphase uncultured amniocytes

1 reference

12 December 2020

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

1 reference

12 December 2020

Fluorescence in situ hybridization (FISH) for rapid detection of aneuploidy: experience in 911 prenatal cases

1 reference

12 December 2020

Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

1 reference

12 December 2020

Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

1 reference

12 December 2020

Trisomic zygote rescue revealed by DNA polymorphism analysis in confined placental mosaicism

1 reference

12 December 2020

Distribution of mosaicism in human placentae

1 reference

12 December 2020

False-positive and false-negative findings on chorionic villus sampling

1 reference

12 December 2020

False-positive and false-negative cytogenetic findings on chorionic villus sampling

1 reference

12 December 2020

False negative cytogenetic result in direct preparations after CVS

1 reference

12 December 2020

False-negative results of trisomy 21 on direct analysis on chorionic villus sampling

1 reference

12 December 2020

Pallister-Killian syndrome [i(12p)]: first pre-natal diagnosis using cordocentesis in the second trimester confirmed by in situ hybridization

1 reference

12 December 2020

Isolated growth hormone deficiency and cystic fibrosis: a report of two cases

1 reference

12 December 2020

An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

1 reference

12 December 2020

Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies

1 reference

12 December 2020

Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism

1 reference

12 December 2020

Does confined placental mosaicism affect the fetus?

1 reference

12 December 2020

Identifiers

DOI

10.3390/JCM3030809

1 reference

9 August 2017

1 reference

9 August 2017

1 reference

PubMed ID

26237479