Evidence map›Paper›PMID 30628197›Full record

ArticleMolecular genetics & genomic medicine2019

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Roberta Bottega, Stefania Cappellani, Antonella Fabretto, Alessandro Mauro Spinelli, Giovanni Maria Severini, Michelangelo Aloisio, Michela Faleschini, Emmanouil Athanasakis, Irene Bruno, Flavio Faletra and 1 more

Abstract readCase ReportsLetter
In one paragraph

Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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.

Roberta BottegaInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.ORCID 0000-0001-7431-7543
Stefania CappellaniInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Antonella FabrettoInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Alessandro Mauro SpinelliUniversity of Udine, Udine, Italy.
Giovanni Maria SeveriniInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Michelangelo AloisioInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Michela FaleschiniInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Emmanouil AthanasakisInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Irene BrunoInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Flavio FaletraInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Vanna PecileInstitute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this paper, is reported the identification of two chimeric patients, a rare finding if sexual abnormalities are absent. However, their chimeric condition is responsible at least for the Silver-Russell phenotype observed in one of the two patients. By single nucleotide polymorphism-array analyses, it was possible to clearly define the mechanism responsible for this unusual finding, underlining the importance of this technique in bringing out the perhaps submerged world of chimeras.

Indexed as

ChimerismPolymorphism, Single NucleotideChildFemaleGenetic TestingHumansMaleOligonucleotide Array Sequence AnalysisPrader-Willi SyndromeSilver-Russell Syndrome

Identifiers

PMID30628197
PMCPMC6418439

What OpenQuestion holds

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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.