Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. (Q54561392)

31 May 2018

title

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. (English)

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31 May 2018

author

Débora R Bertola

5

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31 May 2018

Chong Ae Kim

8

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31 May 2018

Rachel Honjo

4

object named as

Rachel S Honjo

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author name string

Adriano Bonaldi

1

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31 May 2018

Juliana F Mazzeu

2

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Silvia S Costa

3

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Lilian M J Albano

6

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Isabel M Furquim

7

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Angela M Vianna-Morgante

9

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language of work or name

English

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publication date

9 September 2011

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American Journal of Medical Genetics

published in

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volume

155A

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issue

10

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page(s)

2479-2483

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31 May 2018

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

Genomic imprinting: parental influence on the genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

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.34023

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34023

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.34023

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31 May 2018

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31 May 2018