Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome (Q34146198)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome (English)

1 reference

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3 November 2019

main subject

Silver-Russell syndrome

1 reference

2

1 reference

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3 November 2019

Philip Stanier

6

1 reference

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3 November 2019

author name string

Monk D

1

1 reference

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3 November 2019

Proud V

3

1 reference

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3 November 2019

Hitchins M

4

1 reference

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3 November 2019

Abu-Amero SN

5

1 reference

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3 November 2019

Preece MA

7

1 reference

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3 November 2019

Moore GE

8

1 reference

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3 November 2019

language of work or name

English

0 references

publication date

1 January 2000

1 reference

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American Journal of Human Genetics

3 November 2019

published in

1 reference

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3 November 2019

volume

66

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3 November 2019

issue

1

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3 November 2019

page(s)

36-46

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A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples).

3 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Molecular genetics of Beckwith-Wiedemann syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Maternal uniparental disomy 7 in Silver-Russell syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Interaction of a GRB-IR splice variant (a human GRB10 homolog) with the insulin and insulin-like growth factor I receptors. Evidence for a role in mitogenic signaling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Distinct 15q genotypes in Russell-Silver and ring 15 syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Allele-specific replication timing of imprinted gene regions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Familial inverted duplication 7p.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Grb-IR: a SH2-domain-containing protein that binds to the insulin receptor and inhibits its function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Differential activity of maternally and paternally derived chromosome regions in mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Duplication 7p de novo and literature review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Three-generation dominant transmission of the Silver-Russell syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Trisomy‐18 Mosaicism with Features of Russell‐Silver Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348

28 October 2018

A case of trisomy 20?

1 reference

12 December 2020

Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)

1 reference

12 December 2020

Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region

1 reference

12 December 2020

Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

1 reference

12 December 2020

Identifiers

DOI

10.1086/302717

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference