Screening of the ARX gene in 682 retarded males. (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

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29 December 2019

1

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29 December 2019

author name string

Helle Hjalgrim

series ordinal

2

1 reference

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29 December 2019

Inge-Merete Nielsen

series ordinal

3

1 reference

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29 December 2019

Karen Brøndum-Nielsen

series ordinal

4

1 reference

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29 December 2019

publication date

1 September 2004

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European Journal of Human Genetics

29 December 2019

published in

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29 December 2019

volume

12

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29 December 2019

issue

9

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29 December 2019

page(s)

701-705

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201222

29 December 2019

exact match

0 references

cites work

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

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

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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

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

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

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

21 January 2018

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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

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ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

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