(Q41921583)

14 October 2017

title

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

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Margherita Cirillo Silengo

14 October 2017

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25

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14 October 2017

33

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14 October 2017

Mitsuhiro Kato

1

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Annick Toutain

29

object named as

Annick Toutain

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14 October 2017

14

Renzo Guerrini

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14 October 2017

Soma Das

2

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14 October 2017

Kristin Petras

3

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14 October 2017

Kunio Kitamura

4

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14 October 2017

Ken-ichirou Morohashi

5

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14 October 2017

Diane N Abuelo

6

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14 October 2017

Mason Barr

7

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14 October 2017

Dominique Bonneau

8

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14 October 2017

Angela F Brady

9

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14 October 2017

Nancy J Carpenter

10

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14 October 2017

Karen L Cipero

11

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14 October 2017

Francesco Frisone

12

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14 October 2017

Takayuki Fukuda

13

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14 October 2017

Eri Iida

15

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14 October 2017

Masayuki Itoh

16

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14 October 2017

Amy Feldman Lewanda

17

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14 October 2017

Yukiko Nanba

18

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14 October 2017

Akira Oka

19

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14 October 2017

Virginia K Proud

20

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14 October 2017

Pascale Saugier-Veber

21

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14 October 2017

Susan L Schelley

22

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14 October 2017

Angelo Selicorni

23

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14 October 2017

Rachel Shaner

24

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14 October 2017

Fiona Stewart

26

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14 October 2017

Noriyuki Sugiyama

27

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14 October 2017

Jun Toyama

28

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14 October 2017

Ana Lía Vargas

30

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14 October 2017

Masako Yanazawa

31

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14 October 2017

Elaine H Zackai

32

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14 October 2017

publication date

1 February 2004

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14 October 2017

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14 October 2017

volume

23

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14 October 2017

issue

2

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14 October 2017

page(s)

147-159

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Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly

14 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

ARX mutations in X-linked lissencephaly with abnormal genitalia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

Molecular evolution of the homeodomain family of transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Missense mutations of human homeoboxes: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Fetal magnetic resonance imaging (MRI) of ischemic brain injury

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

'Touchdown' PCR to circumvent spurious priming during gene amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Clinical study and haplotype analysis in two brothers with Partington syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Nonsense-mediated mRNA decay in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Evolution of homeobox genes: Q50 Paired-like genes founded the Paired class

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Polyalanine expansion of ARX associated with cryptogenic West syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Splicing and 3' end formation in the definition of nonsense-mediated decay-competent human beta-globin mRNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

X-linked lissencephaly with ambiguous genitalia: delineation of further case

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Human ARX gene: genomic characterization and expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Intrauterine herpes simplex virus infection. Hydranencephaly and a nonvesicular rash in an infant

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10310

7 January 2021

Identifiers

DOI

10.1002/HUMU.10310

1 reference

14 October 2017

1 reference