Evidence map›Paper›PMID 29744066›Full record

ArticleClinical case reports2018

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations.

Julie Coton, Audrey Labalme, Marianne Till, Gerald Bussy, Sonia Krifi Papoz, Gaetan Lesca, Delphine Heron, Damien Sanlaville, Patrick Edery, Vincent des Portes and 1 more

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

11 authors.

Julie CotonCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Audrey LabalmeCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Marianne TillCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Gerald BussyService de Neuropédiatrie Hospices Civils de Lyon Bron France.
Sonia Krifi PapozService de Neuropédiatrie Hospices Civils de Lyon Bron France.
Gaetan LescaCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Delphine HeronDépartement de Génétique et Centre de Référence « Déficiences intellectuelles de causes rares » AP-HP, Groupe Hospitalier Pitié-Salpêtrière et GRC-Génétique des Déficiences Intellectuelles de Causes rares Université Pierre et Marie Curie F-75013 Paris France.
Damien SanlavilleCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Patrick EderyCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.
Vincent des PortesService de Neuropédiatrie Hospices Civils de Lyon Bron France.
Massimiliano RossiCentre de référence des anomalies du développement Service de Génétique Hospices Civils de Lyon Bron France.ORCID 0000-0002-5797-8152

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromosomal microarray (CMA) can detect pathogenic copy number variations in 15-20% of individuals with intellectual disability and in 10% of patients with autism spectrum disorders. The diagnostic rate in specific learning disorders (SLD) is unknown. Our study emphasizes the usefulness of CMA in the diagnostic workout assessment of familial SLD.

Indexed as

17q duplication21q deletionchromosomal microarraydevelopmental coordination disorderdyspraxiaspecific language impairmentspecific learning disorder

Identifiers

PMID29744066
PMCPMC5930267

What OpenQuestion holds

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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.