Evidence map›Paper›PMID 17044103›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2007

Mutation screening of the ARX gene in patients with autism.

Pauline Chaste, Gudrun Nygren, Henrik Anckarsäter, Maria Råstam, Mary Coleman, Marion Leboyer, Christopher Gillberg, Catalina Betancur

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In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 24% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 30 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 5 institutions in 3 countries.

Pauline ChasteINSERM U513, Université Paris XII, Créteil, France.
Gudrun Nygren
Henrik Anckarsäter
Maria Råstam
Mary Coleman
Marion Leboyer
Christopher Gillberg
Catalina Betancur
University of Gothenburg · SEAssistance Publique – Hôpitaux de Paris · FRGeorgetown University · USHôpital Albert-Chenevier · FRUniversité Paris-Est Créteil · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.

Indexed as

Genetic TestingAutistic DisorderDNA Mutational AnalysisFemaleHomeodomain ProteinsHumansMaleMutationTranscription FactorsARX protein, humanHomeodomain ProteinsTranscription Factors

Identifiers

PMID17044103
PMCPMC4826442
OpenAlexW2139538677

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.