Global analysis of uniparental disomy using high density genotyping arrays (Q35447283)

8 August 2017

title

Global analysis of uniparental disomy using high density genotyping arrays (English)

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8 August 2017

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8

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8 August 2017

R Leinonen

2

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Karin Dahlman-Wright

series ordinal

5

object named as

K Dahlman-Wright

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8 August 2017

S Bruce

1

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8 August 2017

M Lipsanen-Nyman

series ordinal

6

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8 August 2017

K Hannula-Jouppi

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7

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8 August 2017

language of work or name

English

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publication date

6 May 2005

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

42

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8 August 2017

issue

11

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8 August 2017

page(s)

847-851

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Molecular karyotyping using an SNP array for genomewide genotyping.

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

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=1735941

Prader-Willi and Angelman syndromes: sister imprinted disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Multipoint genetic mapping with uniparental disomy data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Mechanisms leading to uniparental disomy and their clinical consequences

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Maternal uniparental disomy 7--review and further delineation of the phenotype.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

12 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 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=1735941

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Uniparental disomy as a mechanism for human genetic disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

The sins of the fathers and mothers: genomic imprinting in mammalian development

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735941

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

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15879501

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15879501

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2005.032367

1 reference

release_mst72qekprfebgsoqfon5dgfaq

8 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mst72qekprfebgsoqfon5dgfaq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

1735941

1 reference

8 August 2017

1 reference