Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan (Q57242409)

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2 February 2020

title

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan (English)

1 reference

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2 February 2020

1 reference

1

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2 February 2020

Julie McGaughran

3

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2 February 2020

Peter M. Visscher

4

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2 February 2020

Nick Martin

5

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2 February 2020

Grant W. Montgomery

6

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2 February 2020

author name string

Allan F McRae

2

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2 February 2020

language of work or name

English

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publication date

1 August 2009

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American Journal of Medical Genetics

2 February 2020

published in

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2 February 2020

volume

149A

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2 February 2020

issue

8

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2 February 2020

page(s)

1823-1826

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Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1

2 February 2020

cites work

1 reference

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Global analysis of uniparental disomy using high density genotyping arrays

21 January 2018

1 reference

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A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Genome-wide linkage analysis of age at onset of alcohol dependence: a comparison between microsatellites and single-nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

Brisbane Adolescent Twin Study: Outline of study methods and research projects

21 January 2018

1 reference

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Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.32973

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.32973

1 reference

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2 February 2020

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