(Q54279468)

27 May 2018

title

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. (English)

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27 May 2018

author name string

Michal Inbar-Feigenberg

1

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27 May 2018

Sanaa Choufani

2

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27 May 2018

Cheryl Cytrynbaum

3

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27 May 2018

Yi-An Chen

4

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27 May 2018

Leslie Steele

5

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27 May 2018

Cheryl Shuman

6

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27 May 2018

Peter N Ray

7

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27 May 2018

Rosanna Weksberg

8

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27 May 2018

language of work or name

English

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publication date

13 December 2012

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27 May 2018

American Journal of Medical Genetics

published in

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27 May 2018

volume

161A

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27 May 2018

issue

1

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27 May 2018

page(s)

13-20

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27 May 2018

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Congenital hyperinsulinism and mosaic abnormalities of the ploidy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Mechanisms of imprinting of the Prader-Willi/Angelman region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Mechanisms of imprint dysregulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Transient neonatal diabetes mellitus type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Epigenetic reprogramming in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Origin and outcome of pregnancies affected by androgenetic/biparental chimerism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

Complete hydatidiform mole and normal live birth: a novel case of confined placental mosaicism: Case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35651

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35651

1 reference

27 May 2018

1 reference

27 May 2018