(Q24316230)

GOA release 2020-03-11

Ankyrin repeat domain 11

1 reference

GOA release 2020-03-11

face morphogenesis

1 reference

disability affecting intellectual abilities

GOA release 2020-03-11

intellectual disability

1 reference

1 reference

1 reference

14

0 references

Francesco Brancati

3

0 references

Emanuele Agolini

Emanuele Agolini

8

0 references

Güney Bademci

Guney Bademci

7

0 references

Mustafa Tekin

Mustafa Tekin

17

0 references

Stephan Züchner

16

Stephan Zuchner

0 references

author name string

Asli Sirmaci

1

0 references

Michail Spiliopoulos

2

0 references

Eric Powell

4

0 references

Duygu Duman

5

0 references

Alex Abrams

6

0 references

Shengru Guo

9

0 references

Berrin Konuk

10

0 references

Asli Kavaz

11

0 references

Susan Blanton

12

0 references

Maria Christina Digilio

13

0 references

Juan Young

American Journal of Human Genetics

15

0 references

language of work or name

English

0 references

publication date

12 August 2011

0 references

published in

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volume

89

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issue

2

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page(s)

289-94

0 references

cites work

Structural variation of chromosomes in autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

An ENU-induced mutation in the Ankrd11 gene results in an osteopenia-like phenotype in the mouse mutant Yoda

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

ANKRD11 gene deletion in a 17-year-old male

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

Twins with KBG syndrome and autism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

Characterization of transcriptional regulatory domains of ankyrin repeat cofactor-1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

Calcium influx via the NMDA receptor induces immediate early gene transcription by a MAP kinase/ERK-dependent mechanism.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

KBG syndrome in a cohort of Italian patients

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

The KBG syndrome, characteristic dental findings: a case report.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3155157

10.1016/J.AJHG.2011.06.007

29 November 2018

Identifiers

DOI

1 reference

release_ixz23zd7sffgfkbjin7vq4iyxu

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ixz23zd7sffgfkbjin7vq4iyxu

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

1 reference

PubMed publication ID

21782149

1 reference