(Q51947093)

18 April 2018

title

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12). (English)

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18 April 2018

author name string

V Reid Sutton

1

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18 April 2018

William H McAlister

2

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18 April 2018

Terry K Bertin

3

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18 April 2018

Sara Kaffe

4

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18 April 2018

Jin-Chen C Wang

5

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18 April 2018

Shoji Yano

6

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18 April 2018

Lisa G Shaffer

7

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18 April 2018

Brendan Lee

8

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18 April 2018

Charles J Epstein

9

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18 April 2018

Angela J Villar

10

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18 April 2018

publication date

21 August 2003

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18 April 2018

published in

Human Genetics

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18 April 2018

volume

113

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18 April 2018

issue

5

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18 April 2018

page(s)

447-451

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18 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-003-0981-x

exact match

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cites work

Genetic regulation of somite formation.

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12 December 2020

Genomic imprinting contributes to thyroid hormone metabolism in the mouse embryo.

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12 December 2020

Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S.

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12 December 2020

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

1 reference

12 December 2020

Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12.

1 reference

12 December 2020

Mice devoid of all known thyroid hormone receptors are viable but exhibit disorders of the pituitary-thyroid axis, growth, and bone maturation

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12 December 2020

Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation

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12 December 2020

Cardiomyopathy in mice with paternal uniparental disomy for chromosome 12

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12 December 2020

Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q.

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12 December 2020

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

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12 December 2020

Paternal UPD14 is responsible for a distinctive malformation complex

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12 December 2020

The mouse Gtl2 gene is differentially expressed during embryonic development, encodes multiple alternatively spliced transcripts, and may act as an RNA

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12 December 2020

A case of segmental paternal isodisomy of chromosome 14.

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12 December 2020

The Dlk1 and Gtl2 genes are linked and reciprocally imprinted

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12 December 2020

Imprinting of a small nucleolar RNA gene on mouse chromosome 12.

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12 December 2020

Delta-like and gtl2 are reciprocally expressed, differentially methylated linked imprinted genes on mouse chromosome 12.

1 reference

12 December 2020

Paternal uniparental disomy for chromosome 14: a case report and review

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12 December 2020

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

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12 December 2020

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes

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12 December 2020

10.1007/S00439-003-0981-X

Identifiers

DOI

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18 April 2018

PubMed ID

12938037

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18 April 2018