Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure. (Q40654064)

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21 February 2020

title

Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure (English)

1 reference

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maternal uniparental disomy of chromosome 20

21 February 2020

main subject

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author

Surabhi Mulchandani

1

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21 February 2020

Nina Powell-Hamilton

4

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21 February 2020

Karen Gripp

6

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21 February 2020

Karen Temple

10

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21 February 2020

Deborah Jg Mackay

11

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21 February 2020

Laura K Conlin

18

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21 February 2020

author name string

Elizabeth J Bhoj

2

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21 February 2020

Minjie Luo

3

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21 February 2020

Kim Jenny

5

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21 February 2020

Miriam Elbracht

7

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21 February 2020

Thomas Eggermann

8

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21 February 2020

Claire L S Turner

9

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21 February 2020

Holly Dubbs

12

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21 February 2020

David A Stevenson

13

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21 February 2020

Leah Slattery

14

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21 February 2020

Elaine H Zackai

15

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21 February 2020

Nancy B Spinner

16

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21 February 2020

Ian D Krantz

17

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21 February 2020

language of work or name

English

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publication date

6 August 2015

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21 February 2020

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21 February 2020

volume

18

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issue

4

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page(s)

309-315

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https://scigraph.springernature.com/pub.10.1038/gim.2015.103

21 February 2020

exact match

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cites work

Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Maternal UPD 20 in a hyperactive child with severe growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Prenatally detected trisomy 20 mosaicism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2015.103

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies

21 January 2018

1 reference

12 December 2020

Trisomy 20 mosaicism caused by a maternal meiosis II error is associated with normal intellect but multiple congenital anomalies

1 reference

12 December 2020

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

1 reference

12 December 2020

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2015.103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26248010%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 February 2020

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1 reference