Evidence map›Paper›PMID 27020790›Full record

ReviewJournal of applied genetics2016

Interstitial 11q24 deletion: a new case and review of the literature.

Elisa Tassano, Sara Janis, Alberto Canepa, Elisabetta Zanotto, Corrado Torello, Giorgio Gimelli, Cristina Cuoco

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of applied genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Review
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

7 authors.

Elisa TassanoLaboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy. eli.tassano@gmail.com.
Sara JanisU.O. Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
Alberto CanepaDipartimento di Nefrologia, Istituto Giannina Gaslini, Genova, Italy.
Elisabetta ZanottoU.O. Neuropsichiatria Infantile, Istituto Giannina Gaslini, Genova, Italy.
Corrado TorelloLaboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.
Giorgio GimelliLaboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.
Cristina CuocoLaboratorio di Citogenetica, Istituto Giannina Gaslini, L.go G.Gaslini 5, 16147, Genova, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a 19-month-old male presenting with right stenotic megaureter, anemia and thrombocytopenia, cardiac and ophthalmologic abnormalities. Analysis with array-based comparative genomic hybridization (aCGH) revealed an interstitial deletion of about 2.4 Mb of chromosome 11q24.2q24.3. We compared the phenotype of our patient with that of recently reported patients studied by aCGH, who showed an overlapping deletion. We also analysed the gene content of the deleted region in order to investigate the possible involvement of specific genes in the clinical phenotype.

Indexed as

Chromosome DeletionChromosomes, Human, Pair 11Comparative Genomic HybridizationGenotypeHumansInfantJacobsen Distal 11q Deletion SyndromeMalePhenotype11q24 deletionArray-CGHGenotype-phenotype correlation

Identifiers

What OpenQuestion holds

Textmetadata
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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.