Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. (Q40328374)

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15 January 2020

title

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

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15 January 2020

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10

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15 January 2020

author name string

Francesca R Grati

1

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15 January 2020

Beatrice Grimi

2

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15 January 2020

Giuditia Frascoli

3

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Anna Maria Di Meco

4

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15 January 2020

Rosaria Liuti

5

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15 January 2020

Silvia Milani

6

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Anna Trotta

7

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Francesca Dulcetti

8

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Enrico Grosso

9

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Federico Maggi

11

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Giuseppe Simoni

12

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publication date

1 March 2006

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European Journal of Human Genetics

15 January 2020

published in

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volume

14

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issue

3

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15 January 2020

page(s)

282-288

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201564

15 January 2020

exact match

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cites work

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

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

21 January 2018

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

21 January 2018

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Spontaneous abortion and confined chromosomal mosaicism

21 January 2018

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Confined placental mosaicism

21 January 2018

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

21 January 2018

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Pathogenesis of chromosomal mosaicism and its effect on early human development

21 January 2018

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Genomic imprinting related to prenatal diagnosis

21 January 2018

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Uniparental disomy: clinical indications for testing in growth retardation

21 January 2018

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Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas.

21 January 2018

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

21 January 2018

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

21 January 2018

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An audit of trisomy 16 in man.

21 January 2018

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

21 January 2018

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Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.

21 January 2018

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Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

21 January 2018

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Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

21 January 2018

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Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome.

21 January 2018

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Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

21 January 2018

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

21 January 2018

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Reevaluating confined placental mosaicism

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7 January 2021

Does confined placental mosaicism affect the fetus?

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201564

7 January 2021

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

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7 January 2021

Mosaicism and accuracy of prenatal cytogenetic diagnoses after chorionic villus sampling and placental biopsies

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7 January 2021

Maternal uniparental isodisomy for chromosome 14 detected prenatally

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7 January 2021

Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty

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7 January 2021

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201564

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16418738%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

15 January 2020

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