Evidence map›Paper›PMID 30847208›Full record

ArticleClinical case reports2019

De novo mosaic

Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Maria Alexandrou, Athina Theodosiou, Paola Evangelidou, Ludmila Kousoulidou, George Tanteles, Violetta Christophidou-Anastasiadou, Carolina Sismani

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Sleep Disorders in Children with Rett Syndrome.Children (Basel, Switzerland) · 2025
    Review
  3. Article
  4. Article
  5. De novo mosaicClinical case reports · 2019
    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

9 authors.

Angelos AlexandrouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Ioannis PapaevripidouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Ioanna Maria AlexandrouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Athina TheodosiouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Paola EvangelidouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Ludmila KousoulidouDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.ORCID https://orcid.org/0000-0002-9774-262X
George TantelesDepartment of Clinical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Violetta Christophidou-AnastasiadouDepartment of Clinical Genetics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.
Carolina SismaniDepartment of Cytogenetics and Genomics The Cyprus Institute of Neurology and Genetics Nicosia Cyprus.ORCID https://orcid.org/0000-0002-9296-8347

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on

Indexed as

MECP2 mutationnext‐generation sequencingRett syndromesomatic mosaicism

Identifiers

PMID30847208
PMCPMC6389470

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.