Evidence map›Paper›PMID 23989977›Full record

ArticleNeurogenetics2013

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Birgitte Bertelsen, Nanette Mol Debes, Lena E Hjermind, Liselotte Skov, Karen Brøndum-Nielsen, Zeynep Tümer

Abstract read
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In one paragraph

Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

1 citing paper in PubMed, 7 citations in OpenAlex.

  1. Article
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

6 authors at 4 institutions in 1 country.

Birgitte BertelsenApplied Human Molecular Genetics, Kennedy Center, Rigshospitalet, Copenhagen University Hospital, Glostrup, 2600, Denmark.
Nanette Mol Debes
Lena E Hjermind
Liselotte Skov
Karen Brøndum-Nielsen
Zeynep Tümer
Copenhagen University Hospital · DKHerlev Hospital · DKKennedy Center · DKRigshospitalet · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.

Indexed as

Genetic Predisposition to DiseaseTranslocation, GeneticCytogenetic AnalysisDenmarkFemaleHumansMaleTourette Syndrome

Identifiers

PMID23989977
OpenAlexW2039658581

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.