(Q34050919)

English

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

haploinsufficiency

0 references

brachydactyly type E1

1 reference

based on heuristic

syndrome with brachydactyly

1 reference

based on heuristic

1 reference

based on heuristic

Stephen R Williams

object named as

Stephen R Williams

1

0 references

author name string

Micheala A Aldred

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Vazken M Der Kaloustian

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Fahed Halal

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Gordon Gowans

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

D Ross McLeod

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Sara Zondag

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Helga V Toriello

8

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

R Ellen Magenis

9

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Sarah H Elsea

10

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

0 references

publication date

1 August 2010

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

219-228

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Deletion and point mutations of PTHLH cause brachydactyly type E.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

The transcription factor MEF2C mediates cardiomyocyte hypertrophy induced by IGF-1 signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

A functional network module for Smith-Magenis syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

HDAC4 regulates neuronal survival in normal and diseased retinas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Chromosome 2q37 deletion: clinical and molecular aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Strong association of de novo copy number mutations with autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

MEF2C transcription factor controls chondrocyte hypertrophy and bone development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

PTH/PTHrP receptor delays chondrocyte hypertrophy via both Runx2-dependent and -independent pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Cytogenetic abnormalities and fragile-X syndrome 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=2917703

5 July 2018

Histone deacetylase 4 controls chondrocyte hypertrophy during skeletogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Class II histone deacetylases act as signal-responsive repressors of cardiac hypertrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Enzymatic activity associated with class II HDACs is dependent on a multiprotein complex containing HDAC3 and SMRT/N-CoR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

MEF2: a calcium-dependent regulator of cell division, differentiation and death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Continuous expression of Cbfa1 in nonhypertrophic chondrocytes uncovers its ability to induce hypertrophic chondrocyte differentiation and partially rescues Cbfa1-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Three proteins define a class of human histone deacetylases related to yeast Hda1p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Transcriptional control of muscle development by myocyte enhancer factor-2 (MEF2) proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

5 July 2018

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q deletion.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

Skeletal malformations caused by overexpression of Cbfa1 or its dominant negative form in chondrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2917703

28 October 2018

Identifiers

10.1016/J.AJHG.2010.07.011

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34050919&oldid=1975198004"