(Q42141836)

17 October 2017

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies (English)

1 reference

disability affecting intellectual abilities

17 October 2017

0 references

0 references

electroencephalography

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

Giuseppa Di Vita

2

0 references

Marinella Zingale

Marinella Zingale

6

0 references

Mariangela Lo Giudice

Mariangela Lo Giudice

4

0 references

Lucia Castiglia

Lucia Castiglia

8

0 references

Marco Fichera

Marco Fichera

Sebastiano Antonino Musumeci

10

0 references

Sebastiano Antonino Musumeci

9

0 references

Corrado Romano

Corrado Romano

3

0 references

Aurelio Vitello

1 reference

ORCID Public Data File 2021

Lucia Grillo

7

Lucia Grillo

1 reference

17 October 2017

1

Daniela Di Benedetto

1 reference

PMCID

3564794

17 October 2017

Girolamo Aurelio Vitello

5

Girolamo Aurelio Vitello

1 reference

17 October 2017

17 January 2013

1 reference

17 October 2017

Molecular Cytogenetics

1 reference

17 October 2017

6

1 reference

17 October 2017

1

1 reference

17 October 2017

4

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8166-6-4

17 October 2017

0 references

cites work

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Autism risk assessment in siblings of affected children using sex-specific genetic scores.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Spinocerebellar ataxia type 1.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Loss of function of ATXN1 increases amyloid beta-protein levels by potentiating beta-secretase processing of beta-amyloid precursor protein.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Mylip makes an Idol turn into regulation of LDL receptor

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

LXR regulates cholesterol uptake through Idol-dependent ubiquitination of the LDL receptor

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Functional activities and cellular localization of the ezrin, radixin, moesin (ERM) and RING zinc finger domains in MIR

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

JUMONJI, a critical factor for cardiac development, functions as a transcriptional repressor

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Dysbindin, a novel coiled-coil-containing protein that interacts with the dystrobrevins in muscle and brain

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Neuronal expression of the ERM-like protein MIR in rat brain and its localization to human chromosome 6

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

MIR is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Delineation of two distinct 6p deletion syndromes.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

The guanosine monophosphate reductase gene is conserved in rats and its expression increases rapidly in brown adipose tissue during cold exposure

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Characterization of the human jumonji gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

A patient with an interstitial deletion of the short arm of chromosome 6

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive--compulsive disorder.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3564794

17 August 2018

Identifiers

DOI

10.1186/1755-8166-6-4

1 reference

PMCID

3564794

Dimensions Publication ID

17 October 2017

0 references

1 reference

17 October 2017

1 reference

PMCID

3564794