Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case. (Q46958865)

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12 February 2020

title

Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case (English)

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12 February 2020

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7

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author name string

Xueling Ou

1

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12 February 2020

Chao Liu

2

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12 February 2020

Suqin Chen

3

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12 February 2020

Jianfeng Yu

4

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Yinming Zhang

5

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Sujuan Liu

6

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publication date

23 August 2012

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12 February 2020

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12 February 2020

volume

53

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issue

6

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page(s)

1266-1269

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

12 February 2020

cites work

1 reference

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Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype.

21 January 2018

1 reference

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Polymorphism analysis and evaluation of nine non-CODIS STR loci in the Han population of Southern China.

21 January 2018

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Genetic variation analysis of 15 autosomal STR loci of AmpFlSTR Sinofiler PCR Amplification Kit in Henan (central China) Han population

21 January 2018

1 reference

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Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

21 January 2018

1 reference

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Uniparental paternal disomy in Angelman's syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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Uniparental Disomy in Steroid 5 -Reductase 2 Deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.

21 January 2018

1 reference

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Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1537-2995.2012.03863.X

10.1111/J.1537-2995.2012.03863.X

21 January 2018

Identifiers

DOI

1 reference

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12 February 2020

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