(Q36682239)

15 August 2017

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome (English)

1 reference

neurodevelopmental disorder

15 August 2017

1 reference

inferred from title

Coffin-Siris syndrome

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Yoshinori Tsurusaki

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Jenny Taylor

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

20

Usha Kini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Alistair T Pagnamenta

2

object named as

Alistair T Pagnamenta

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Annmarie Hempel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Sahar Mansour

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Vivienne McConnell

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ikuyo Kou

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Shiro Ikegawa

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Naomichi Matsumoto

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Adriana Lo-Castro

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ghislaine Plessis

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Beate Albrecht

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Agatino Battaglia

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Malcolm F Howard

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Aman Singh Sohal

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

DDD Collaboration

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Susanne J Kühl

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Alisdair McNeill

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

David Keays

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

language of work or name

English

0 references

publication date

5 November 2015

1 reference

Journal of Medical Genetics

15 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

152-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

6 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Identification of a large set of rare complete human knockouts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

ARID1B-mediated disorders: Mutations and possible mechanisms.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

A copy number variation map of the human genome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Neurogenesis in the embryonic and adult brain: same regulators, different roles

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Keeping an eye on SOXC proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

The ARID1B phenotype: what we have learned so far.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

RNF144A, an E3 ubiquitin ligase for DNA-PKcs, promotes apoptosis during DNA damage

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

De novo SOX11 mutations cause Coffin-Siris syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Viperin is an iron-sulfur protein that inhibits genome synthesis of tick-borne encephalitis virus via radical SAM domain activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

The BAF complex interacts with Pax6 in adult neural progenitors to establish a neurogenic cross-regulatory transcriptional network.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

sox4 and sox11 function during Xenopus laevis eye development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Human UMP-CMP kinase 2, a novel nucleoside monophosphate kinase localized in mitochondria

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Large-scale discovery of novel genetic causes of developmental disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Cornelia de Lange syndrome

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Transcription factor Sox11 is essential for both embryonic and adult neurogenesis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4789813

SOX11 target genes: implications for neurogenesis and neuropsychiatric illness.

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103393

Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26543203

12 December 2020

inferred from PubMed ID database lookup

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26543203

12 December 2020

inferred from PubMed ID database lookup

Hand anomalies in fetal-hydantoin syndrome: from nail/phalangeal hypoplasia to unilateral acheiria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26543203

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMEDGENET-2015-103393

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

PubMed publication ID

26543203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26543203%20AND%20SRC:MED&resulttype=core&format=json