(Q35600539)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Julian Martinez-agosto

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

7

Stanley F Nelson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

author name string

Hane Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Shahnaz Ghahremani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Pamela Kempert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Mariam Ischander

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Michael A Teitell

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

language of work or name

English

0 references

publication date

27 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

12 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

294-302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

DICER1 hotspot mutations in non-epithelial gonadal tumours

12 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

A genomic view of mosaicism and human disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

DIANA miRPath v.2.0: investigating the combinatorial effect of microRNAs in pathways

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Strand-specific miR-28-5p and miR-28-3p have distinct effects in colorectal cancer cells

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

DICER1 mutations in familial pleuropulmonary blastoma

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Gene regulation by microRNAs

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Children with idiopathic hemihypertrophy and beckwith-wiedemann syndrome have different constitutional epigenotypes associated with wilms tumor

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Molecular characterization of a mouse cDNA encoding Dicer, a ribonuclease III ortholog involved in RNA interference

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Oncogenic mutations of the p53 tumor suppressor: the demons of the guardian of the genome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Cystic hamartomata of lung and kidney: a spectrum of developmental abnormalities.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Biallelic DICER1 mutations occur in Wilms tumours.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Molecular mechanisms of childhood overgrowth

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Mir-125a-5p-mediated regulation of Lfng is essential for the avian segmentation clock.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Extending the phenotypes associated with DICER1 mutations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Germline DICER1 mutations and familial cystic nephroma.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Validation of Pyrosequencing for accurate and high throughput estimation of allele frequencies in malaria parasites.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Haploinsufficiency of NSD1 causes Sotos syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4429769

Assessing allele frequencies of single nucleotide polymorphisms in DNA pools by pyrosequencing technology

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24676357

12 December 2020

inferred from PubMed ID database lookup

Bilateral nephromegaly and multiple pulmonary cysts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24676357

12 December 2020

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/24676357

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMEDGENET-2013-101943

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

release_2kljzhwi3vce5e4mucskfo6d74

12 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2kljzhwi3vce5e4mucskfo6d74

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24676357%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

24676357

1 reference