(Q34638038)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

title

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome (English)

1 reference

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27 February 2020

main subject

Silver-Russell syndrome

1 reference

7

1 reference

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27 February 2020

Masayo Kagami

16

1 reference

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27 February 2020

Tsutomu Ogata

18

1 reference

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27 February 2020

5

Reiko Horikawa

1 reference

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27 February 2020

15

Keiko Matsubara

1 reference

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27 February 2020

11

Kazuhiko Nakabayashi

1 reference

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27 February 2020

14

Shinichiro Sano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1

Tomoko Fuke

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

17

Kazuki Yamazawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

2

Seiji Mizuno

1 reference

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27 February 2020

3

Toshiro Nagai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

4

Tomonobu Hasegawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

6

Yoko Miyoshi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

8

Tatsuro Kondoh

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

9

Chikahiko Numakura

1 reference

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27 February 2020

13

Kenichiro Hata

1 reference

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27 February 2020

author name string

Seiji Sato

10

1 reference

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27 February 2020

Chiharu Tayama

12

1 reference

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27 February 2020

language of work or name

English

0 references

publication date

22 March 2013

1 reference

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27 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

volume

8

1 reference

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27 February 2020

issue

3

1 reference

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27 February 2020

page(s)

e60105

1 reference

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Creative Commons Attribution 4.0 International

27 February 2020

copyright license

start time

22 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Aplasia ras homolog member I is downregulated in gastric cancer and silencing its expression promotes cell growth in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

In embryonic stem cells, ZFP57/KAP1 recognize a methylated hexanucleotide to affect chromatin and DNA methylation of imprinting control regions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Uniparental disomy and human disease: an overview.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Epigenotype-phenotype correlations in Silver-Russell syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

ARHI, as a novel suppressor of cell growth and downregulated in human hepatocellular carcinoma, could contribute to hepatocarcinogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Imprinted tumor suppressor genes ARHI and PEG3 are the most frequently down-regulated in human ovarian cancers by loss of heterozygosity and promoter methylation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

The genetic aetiology of Silver-Russell syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Imprinted genes, placental development and fetal growth

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Accurate quantification of DNA methylation using combined bisulfite restriction analysis coupled with the Agilent 2100 Bioanalyzer platform

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

American College of Medical Genetics statement of diagnostic testing for uniparental disomy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Mechanisms leading to uniparental disomy and their clinical consequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Maternal uniparental disomy 7--review and further delineation of the phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Evidence for evolutionarily conserved secondary structure in the H19 tumor suppressor RNA.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Dissociation of IGF2 and H19 imprinting in human brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Variable imprinting of H19 and IGF2 in fetal cerebellum and medulloblastoma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Rch1, a protein that specifically interacts with the RAG-1 recombination-activating protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Identification of hSRP1 alpha as a functional receptor for nuclear localization sequences

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3606247

Molecular and clinical findings and their correlations in Silver-Russell syndrome: implications for a positive role of IGF2 in growth determination and differential imprinting regulation of the IGF2-H19 domain in bodies and placentas.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

CTCF binding at the insulin-like growth factor-II (IGF2)/H19 imprinting control region is insufficient to regulate IGF2/H19 expression in human tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

Tumour-suppressor activity of H19 RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0060105

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

21 January 2018

1 reference

12 December 2020

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations

1 reference

12 December 2020

Placental hypoplasia in maternal uniparental disomy for chromosome 7

1 reference

12 December 2020

Placentomegaly in paternal uniparental disomy for human chromosome 14

1 reference

12 December 2020

Segmental maternal UPD(7q) in Silver-Russell syndrome

1 reference

12 December 2020

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

1 reference

12 December 2020

Russell-Silver syndrome

1 reference

12 December 2020

Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes

1 reference

12 December 2020

Silver-Russell syndrome

1 reference

12 December 2020

Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15)mat through meiosis 1 errors

1 reference

12 December 2020

Mosaic upd(7)mat in a patient with Silver-Russell syndrome

1 reference

12 December 2020

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

1 reference

12 December 2020

Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0060105

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

PubMed publication ID

23533668

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23533668%20AND%20SRC:MED&resulttype=core&format=json