A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report (Q35704189)

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19 January 2020

title

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22214275%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference

6

1 reference

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19 January 2020

author name string

Orazio Palumbo

1

1 reference

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19 January 2020

Pietro Palumbo

2

1 reference

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19 January 2020

Teresa Palladino

3

1 reference

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19 January 2020

Raffaella Stallone

4

1 reference

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19 January 2020

Leopoldo Zelante

5

1 reference

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19 January 2020

publication date

3 January 2012

1 reference

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19 January 2020

published in

Molecular Cytogenetics

1 reference

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19 January 2020

volume

5

1 reference

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19 January 2020

issue

1

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19 January 2020

page(s)

1

1 reference

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Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

19 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267682

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267682

Expression pattern of the ether-a-gogo-related (ERG) K+ channel-encoding genes ERG1, ERG2, and ERG3 in the adult rat central nervous system.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267682

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267682

De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.

12 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8166-5-1

Genomic organization, sequence and chromosomal localization of the mouse Tbr2 gene and a comparative study with Tbr1.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1755-8166-5-1

Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22214275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22214275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22214275

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1755-8166-5-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22214275%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22214275%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

PubMed publication ID

22214275

1 reference