(Q35959667)

11 August 2017

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations (English)

1 reference

11 August 2017

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Mieke van Haelst

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Gijs van Haaften

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Ann Nordgren

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Giedre Grigelioniene

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pedro Louro

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Carine E Carels

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

9

Han G Brunner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

7

Sarina G Kant

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

24

Tjitske Kleefstra

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Marjolein H Willemsen

2

object named as

Marjolein H Willemsen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

22

Helger G Yntema

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

author name string

Sonja de Munnik

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Bregje W M van Bon

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Nicole de Leeuw

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Aad Verrips

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Elizabeth A Jones

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Rosa L E van Loon

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Eric E J Smeets

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Helena Malmgren

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Sascha Vermeer

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Lina Ramos

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Thomas J J Maal

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Celeste C van Heumen

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

publication date

26 November 2014

1 reference

European Journal of Human Genetics

11 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

volume

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

page(s)

1176-1185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.253

9 June 2020

exact match

0 references

cites work

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

ANKRD11 gene deletion in a 17-year-old male

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion 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=4538199

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Identification of ANKRD11 as a p53 coactivator

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Structural variation of chromosomes in autism spectrum 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=4538199

Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell 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=4538199

A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Diagnostic exome sequencing in persons with severe intellectual disability

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4538199

Partial deletion ofANKRD11results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.253

KBG syndrome in a cohort of Italian patients

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2014.253

KBG syndrome associated with periventricular nodular heterotopia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A De Novo Deletion at 16q24.3 InvolvingANKRD11in a Japanese Patient With KBG Syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25424714

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2014.253

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

25424714

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25424714%20AND%20SRC:MED&resulttype=core&format=json