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Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
scientific article
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
title
Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
main subject
Silver-Russell syndrome
1 reference
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inferred from title
author
Emma Wakeling
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Philip Stanier
series ordinal
6
1 reference
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Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
author name string
Monk D
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1
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Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Proud V
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3
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Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Hitchins M
series ordinal
4
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Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Abu-Amero SN
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Preece MA
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
Moore GE
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
language of work or name
English
0 references
publication date
1 January 2000
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
published in
American Journal of Human Genetics
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stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
volume
66
1 reference
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Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
page(s)
36-46
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
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PubMed Central
reference URL
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Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins.
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5 July 2018
An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
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PubMed Central
reference URL
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5 July 2018
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.
1 reference
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PubMed Central
reference URL
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5 July 2018
Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene
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5 July 2018
Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Maternal uniparental disomy 7 in Silver-Russell syndrome
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PubMed Central
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5 July 2018
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
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PubMed Central
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5 July 2018
Distinct 15q genotypes in Russell-Silver and ring 15 syndromes
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5 July 2018
Allele-specific replication of 15q11-q13 loci: a diagnostic test for detection of uniparental disomy
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5 July 2018
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
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5 July 2018
Allele-specific replication timing of imprinted gene regions
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PubMed Central
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5 July 2018
Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Familial inverted duplication 7p.
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Grb-IR: a SH2-domain-containing protein that binds to the insulin receptor and inhibits its function
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Differential activity of maternally and paternally derived chromosome regions in mice
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Duplication 7p de novo and literature review
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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5 July 2018
Three-generation dominant transmission of the Silver-Russell syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
retrieved
5 July 2018
Trisomy‐18 Mosaicism with Features of Russell‐Silver Syndrome
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
retrieved
5 July 2018
Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
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28 October 2018
Duplication 7p in a family with t(7;11): association with anomalies of the anterior cranial base
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288348
retrieved
28 October 2018
A case of trisomy 20?
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10631135
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10631135
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10631135
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/10631135
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1086/302717
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
PMC publication ID
1288348
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
PubMed publication ID
10631135
1 reference
stated in
Europe PubMed Central
PMC publication ID
1288348
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10631135%20AND%20SRC:MED&resulttype=core&format=json
retrieved
3 November 2019
ResearchGate publication ID
12683485
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