Evidence map›Paper›PMID 41153441›Full record

ArticleGenes2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, Angelos Alexandrou, Ioannis Papaevripidou, Ludmila Kousoulidou, Pantelitsa Koutsou, Anthi Georghiou, Türem Delikurt, Elena Spanou and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Constantia AristidouDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Athina TheodosiouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Pavlos AntoniouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Angelos AlexandrouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Ioannis PapaevripidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Ludmila KousoulidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Pantelitsa KoutsouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Anthi GeorghiouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Türem DelikurtDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Elena SpanouDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Nicole SalamehDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Paola EvangelidouDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0001-5565-0666
Kyproula ChristodoulouNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0002-0622-7594
Alain VerloesGenetics Department, APHP-Robert Debré University Hospital, Université Paris Cité, 75019 Paris, France.
Violetta Christophidou-AnastasiadouDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
George A TantelesDepartment of Clinical Genetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.
Carolina SismaniDepartment of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2371 Nicosia, Cyprus.ORCID 0000-0002-9296-8347

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Intellectual DisabilityX-Linked Intellectual DisabilityAdultChromosomes, Human, XCyprusExome SequencingFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMalePedigreeARXARXdup24dark genomic regionsPartington syndromeX-linked intellectual disability

Identifiers

PMID41153441
PMCPMC12564775

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.