Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome (Q28587450)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254443%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254443%20AND%20SRC:MED&resulttype=core&format=json

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)

5 November 2019

main subject

1 reference

GOA release 2020-03-11

1 reference

6

1 reference

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5 November 2019

author name string

Petek E

1

1 reference

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5 November 2019

Windpassinger C

2

1 reference

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5 November 2019

Vincent JB

3

1 reference

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5 November 2019

Cheung J

4

1 reference

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5 November 2019

Boright AP

5

1 reference

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5 November 2019

Kroisel PM

7

1 reference

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5 November 2019

Wagner K

8

1 reference

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5 November 2019

language of work or name

English

0 references

publication date

9 March 2001

1 reference

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American Journal of Human Genetics

5 November 2019

published in

2 references

31 January 2017

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5 November 2019

volume

68

2 references

31 January 2017

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5 November 2019

page(s)

848-858

1 reference

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5 November 2019

issue

4

2 references

31 January 2017

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Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual

5 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

A decrease of reelin expression as a putative vulnerability factor in schizophrenia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

A mitochondrial protease with two catalytic subunits of nonoverlapping specificities.

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Cloning, sequencing and localization to chromosome 11 of a cDNA encoding a human opioid-binding cell adhesion molecule (OBCAM)

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Chromosome 7q22-q31 duplication: report of a new case and review

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Significant linkage for Tourette syndrome in a large French Canadian family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

An international perspective on Tourette syndrome: selected findings from 3,500 individuals in 22 countries

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Mitochondrial involvement in schizophrenia and other functional psychoses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Annotation: Gilles de la Tourette syndrome--an update

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Autosomal Dominant Gene Transmission in a Large Kindred with Gilles de la Tourette Syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Signal peptidases in prokaryotes and eukaryotes--a new protease family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Recent developments in the molecular genetics of mitochondrial disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Cloning and expression of a novel gene for a protein with leucine-rich repeats in the developing mouse nervous system

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

The prevalence of Gilles de la Tourette syndrome in children and adolescents with autism: a large scale study

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

A prospective longitudinal study of Gilles de la Tourette's syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1275638

Isolation of site-specific insert probes from chimeric YACs

27 November 2018

1 reference

12 December 2020

Current status of genetic studies of Gilles de la Tourette syndrome

1 reference

12 December 2020

Candidate region for Gilles de la Tourette syndrome at 7q31

1 reference

12 December 2020

Gene location in Tourette syndrome

1 reference

12 December 2020

Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer

1 reference

12 December 2020

Identifiers

DOI

10.1086/319523

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254443%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11254443%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

2 references