Evidence map›Paper›PMID 35483874›Full record

ArticleCold Spring Harbor molecular case studies2022

A de novo

Andri Miltiadous, Philippos Demetriou, Maria Kyriakou, Petroula Gerasimou, George Herodotou, Agathi Elpidoforou, Yiannos Kyprianou, Maria Iacovou, Jianxiang Chi, Paul Costeas and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. 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, 0 citations in OpenAlex.

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

11 authors at 1 institution in 1 country.

Andri MiltiadousMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
Philippos DemetriouThe Center for the Study of Haematological Malignancies, Nicosia, Cyprus.
Maria KyriakouThe Center for the Study of Haematological Malignancies, Nicosia, Cyprus.
Petroula GerasimouMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
George HerodotouMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
Agathi ElpidoforouMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
Yiannos KyprianouMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
Maria IacovouMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
Jianxiang ChiThe Center for the Study of Haematological Malignancies, Nicosia, Cyprus.
Paul CosteasMolecular Hematology-Oncology, Karaiskakio Foundation, Nicosia, Cyprus.
George A TantelesDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics Nicosia, Cyprus.ORCID 0000-0002-8117-9852
Center for the Study of Childhood and Adolescence · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Poland syndrome is a rare developmental disorder characterized by unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, accompanied with ipsilateral hand malformations. To date, no clear genetic cause has been associated with Poland syndrome, although familial cases have been reported. We report the employment of trio exome investigation and the identification of a heterozygous de novo pathogenic variant in the

Indexed as

Poland SyndromeAdolescentExomeExome SequencingHeterozygoteHumansMaleRepressor ProteinsTranscription FactorsRepressor ProteinsSFMBT1 protein, humanTranscription Factorsunilateral absence of pectoralis major muscle

Identifiers

PMID35483874
PMCPMC9059785
OpenAlexW4225122474

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

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.