(Q51898240)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17941887%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe (English)

1 reference

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9 January 2020

0 references

6

1 reference

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9 January 2020

Rikke S Møller

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17941887%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Zeynep Tumer

7

1 reference

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9 January 2020

author name string

Hansen CP

2

1 reference

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9 January 2020

Jackson GD

3

1 reference

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9 January 2020

Ullmann R

4

1 reference

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9 January 2020

Ropers HH

5

1 reference

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9 January 2020

publication date

16 October 2007

1 reference

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9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17941887%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

72

1 reference

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9 January 2020

issue

6

1 reference

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9 January 2020

page(s)

593-598

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17941887%20AND%20SRC:MED&resulttype=core&format=json

Syndrome of proximal interstitial deletion 4p15: report of three cases and review of the literature

9 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Familial interstitial deletion of chromosome 4 (p15.2p16.1).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

CGHPRO -- a comprehensive data analysis tool for array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Directional guidance of neuronal migration in the olfactory system by the protein Slit

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Slit proteins prevent midline crossing and determine the dorsoventral position of major axonal pathways in the mammalian forebrain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Global variation in copy number in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

A comprehensive analysis of common copy-number variations in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Using gene-history and expression analyses to assess the involvement of LGI genes in human disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

A novel gene causing a mendelian audiogenic mouse epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Polymicrogyria in chromosome 22q11 deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Epileptogenesis in pediatric cortical dysplasia: the dysmature cerebral developmental hypothesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2007.00901.X

10.1111/J.1399-0004.2007.00901.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17941887%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference