(Q34040729)

English

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

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Europe PubMed Central

PubMed publication ID

30 July 2017

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A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

0 references

0 references

1 reference

based on heuristic

inferred from title

hyperkinetic disorder

1 reference

based on heuristic

inferred from title

Maria Clara Bonaglia

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Roberto Giorda

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

publication date

5 August 2014

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Molecular Cytogenetics

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

7

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

53

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

https://scigraph.springernature.com/pub.10.1186/1755-8166-7-53

0 references

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

Prenatal diagnosis of ring chromosome 2 with lissencephaly and 2p25.3 and 2q37.3 microdeletions detected using array comparative genomic hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

MicroRNA-mediated conversion of human fibroblasts to neurons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

Direct conversion of fibroblasts to functional neurons by defined factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

Further studies on acid phosphatase in obese subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

5 July 2018

Monozygotic twins discordant for submicroscopic chromosomal anomalies in 2p25.3 region detected by array CGH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

28 October 2018

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

28 October 2018

A study of acid phosphatase locus 1 in women with high fat content and normal body mass index

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

28 October 2018

A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4131807

28 October 2018

Identifiers

10.1186/1755-8166-7-53

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25126114%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

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