(Q35194259)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

title

Uniparental disomy for chromosome 16 in humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

author name string

Kalousek DK

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Langlois S

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

Barrett I

3

1 reference

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12 October 2019

Yam I

4

1 reference

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12 October 2019

Wilson DR

5

1 reference

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12 October 2019

Howard-Peebles PN

6

1 reference

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12 October 2019

Johnson MP

7

1 reference

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12 October 2019

Giorgiutti E

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

language of work or name

English

0 references

publication date

1 January 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 October 2019

published in

1 reference

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12 October 2019

volume

52

1 reference

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12 October 2019

issue

1

1 reference

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12 October 2019

page(s)

8-16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

12 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Differential activity of maternally and paternally derived chromosome regions in mice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Transgenes as molecular probes for genomic imprinting.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Placental mosaicism and intrauterine survival of trisomies 13 and 18.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3' hypervariable region

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Uniparental disomy as a mechanism for human genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Chromosome mosaicism of the placenta--a cause of developmental failure of the fetus?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Chromosome maps of man and mouse. IV.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Dinucleotide repeat polymorphism at the D15S87 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Mosaic trisomy 16 in a live newborn infant

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Confined placental mosaicism and intrauterine development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Mosaicism in chorionic villus sampling: an association with poor perinatal outcome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Genomic imprinting: review and relevance to human diseases.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

The differential roles of parental genomes in mammalian development.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Apparent non-mosaic trisomy 16 in chorionic villi: diagnostic dilemma or clinically significant finding?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Spontaneous abortion and confined chromosomal mosaicism

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Postnatal placental confirmation of trisomy 2 and trisomy 16 detected at chorionic villus sampling: a possible association with intrauterine growth retardation and elevated maternal serum alpha-fetoprotein

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Mosaic autosomal trisomy in cultures from spontaneous abortions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Non-mosaic trisomy 16 confined to villi

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682104

A simple method of reducing the fading of immunofluorescence during microscopy

27 September 2018

1 reference

12 December 2020

Parental origin of autosomal trisomies

1 reference

12 December 2020

Purification of DNA from formaldehyde fixed and paraffin embedded human tissue

1 reference

12 December 2020

Extra embryonic/fetal karyotypic discordance during diagnostic chorionic villus sampling

1 reference

12 December 2020

Trisomy 16 detected at chorion villus sampling

1 reference

12 December 2020

Resorbed co-twin as an explanation for discrepant chorionic villus results: non-mosaic 47,XX,+16 in villi (direct and culture) with normal (46,XX) amniotic fluid and neonatal blood

1 reference

12 December 2020

Intrauterine growth retardation associated with chromosomal aneuploidy confined to the placenta. Three observations: triple trisomy 6,21,22; trisomy 16; and trisomy 18

1 reference

12 December 2020

Is placental mosaicism associated with poor perinatal outcome?

1 reference

12 December 2020

Trisomy 9 confined to the placenta: Prenatal diagnosis and neonatal follow-up

1 reference

12 December 2020

Follow-up and pregnancy outcome after a diagnosis of mosaicism in CVS

1 reference

12 December 2020

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

1 reference

12 December 2020

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8434609%20AND%20SRC:MED&resulttype=core&format=json

12 October 2019

PubMed publication ID

8434609

1 reference