(Q35764341)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Elizabeth Perdeaux

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

3

Elise Ruark

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

28

Nazneen Rahman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

author name string

Katrina Tatton-Brown

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Sandra Hanks

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Silvana Del Vecchio Duarte

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Emma Ramsay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Katie Snape

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Anne Murray

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Sheila Seal

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Chey Loveday

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Siddharth Banka

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Carol Clericuzio

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Frances Flinter

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Alex Magee

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Vivienne McConnell

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Michael Patton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Wolfgang Raith

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Julia Rankin

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Miranda Splitt

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Volker Strenger

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Clare Taylor

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Patricia Wheeler

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Karen I Temple

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Trevor Cole

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Childhood Overgrowth Collaboration

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

Jenny Douglas

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

language of work or name

English

0 references

publication date

1 December 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

volume

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

page(s)

1127-1133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

mTOR signaling in disease

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

The roles of EZH2 in cell lineage commitment.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Aberrations of EZH2 in cancer

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Coordinated activities of wild-type plus mutant EZH2 drive tumor-associated hypertrimethylation of lysine 27 on histone H3 (H3K27) in human B-cell lymphomas

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Hundreds of variants clustered in genomic loci and biological pathways affect human height

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Somatic mutations altering EZH2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

The Polycomb group protein EZH2 directly controls DNA methylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

The functions of E(Z)/EZH2-mediated methylation of lysine 27 in histone H3.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Human non-synonymous SNPs: server and survey

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Predicting deleterious amino acid substitutions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Weaver syndrome: autosomal dominant inheritance of the disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Autosomal dominant inheritance of Weaver syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Prediction of complete gene structures in human genomic DNA

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Improved splice site detection in Genie

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Weaver syndrome: the changing phenotype in an adult.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3282071

Twins and their mildly affected mother with Weaver syndrome

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22190405

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.18632/ONCOTARGET.385

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22190405%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference