Evidence map›Paper›PMID 34573171›Full record

ArticleBrain sciences2021

Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.

Celeste Casto, Valeria Dipasquale, Ida Ceravolo, Antonella Gambadauro, Emanuela Aliberto, Karol Galletta, Francesca Granata, Giorgia Ceravolo, Emanuela Falzia, Antonella Riva and 12 more

Open access · goldAbstract read
In one paragraph

Article in Brain sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 25% of its field
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

3 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

22 authors at 5 institutions in 2 countries.

Celeste CastoDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Valeria DipasqualeDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Ida CeravoloUnit of Ophthalmology, Department of Clinical and Experimental Medicine, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Antonella GambadauroDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.ORCID 0000-0002-7421-0903
Emanuela AlibertoCasa di Cura la Madonnina, Via Quadronno 29, 20122 Milano, Italy.
Karol GallettaDepartment of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Francesca GranataDepartment of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Giorgia CeravoloDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Emanuela FalziaAzienza Ospedaliera di Cosenza, Via San Martino, 87100 Cosenza, Italy.
Antonella RivaPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0001-9152-5571
Gianluca PiccoloPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Maria Concetta CutrupiDepartment of Human Pathology in Adult and Developmental Age "Gaetano Barresi", Unit of Emergency Pediatric, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Pasquale StrianoPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.ORCID 0000-0002-6065-1476
Andrea AccogliDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Largo Paolo Daneo 3, 16132 Genoa, Italy.
Federico ZaraDepartment of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Largo Paolo Daneo 3, 16132 Genoa, Italy.
Gabriella Di RosaChild Neurology and Neuropsychiatry Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Eloisa GittoNeonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Elisa CalìDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK.
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK.ORCID 0000-0003-4900-9877
Vincenzo SalpietroPediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Gower Street, London WC1E 6BT, UK.
Roberto ChimenzUnit of Pediatric Nephrology and Dialysis, Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
University of Messina · ITIstituto Giannina Gaslini · ITNational Hospital for Neurology and Neurosurgery · GBAzienda Ospedaliera di Cosenza · ITCasa di Cura Columbus · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder caused mainly by loss of function variants in the

Indexed as

congenital cataractsdental anomaliesgenotypemotor impairmentNance-Horan syndromenext-generation sequencingpediatric age

Identifiers

PMID34573171
PMCPMC8465299
OpenAlexW3197255329

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.