(Q47336770)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

title

Screening of the ARX gene in 682 retarded males (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Helle Hjalgrim

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Inge-Merete Nielsen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Karen Brøndum-Nielsen

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

publication date

1 September 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

29 December 2019

published in

1 reference

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29 December 2019

volume

1 reference

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29 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

page(s)

701-705

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15199382%20AND%20SRC:MED&resulttype=core&format=json

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

29 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Nonsyndromic X-linked mental retardation: where are the missing mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Expression of a novel aristaless related homeobox gene ‘Arx’ in the vertebrate telencephalon, diencephalon and floor plate

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

A simple salting out procedure for extracting DNA from human nucleated cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201222