Evidence map›Paper›PMID 34421500›Full record

ArticleMolecular syndromology2021

New

Viviane Freitas de Castro, Daniel Mattos, Flavia Martinez de Carvalho, Denise Pontes Cavalcanti, Milagros M Duenas-Roque, Juan Llerena, Viviana Raquel Cosentino, Rachel Sayuri Honjo, Julio Cesar Loguercio Leite, Maria Teresa Sanseverino and 9 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2021. 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, top 95% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

19 authors at 10 institutions in 3 countries.

Viviane Freitas de CastroECLAMC at Departamento de Genética, UFRJ, Rio de Janeiro, Brazil.
Daniel MattosECLAMC at Departamento de Genética, UFRJ, Rio de Janeiro, Brazil.
Flavia Martinez de CarvalhoInstituto Nacional de Genética Médica Populacional INAGEMP, Porto Alegre, Brazil.
Denise Pontes CavalcantiDepartamento de Medicina Translacional, área de Genética Médica, FCM/UNICAMP, Campinas, Brazil.
Milagros M Duenas-RoqueECLAMC at Servicio de Genética, Hospital Nacional Edgardo Rebagliati Martins/EsSalud, Lima, Peru.
Juan LlerenaInstituto Nacional de Genética Médica Populacional INAGEMP, Porto Alegre, Brazil.
Viviana Raquel CosentinoECLAMC at CEMIC/CONICET, Buenos Aires, Argentina.
Rachel Sayuri HonjoUnidade de Genética, HC/FM/USP, São Paulo, Brazil.
Julio Cesar Loguercio LeiteECLAMC at HC/UFRGS, Porto Alegre, Brazil.
Maria Teresa SanseverinoECLAMC at HC/UFRGS, Porto Alegre, Brazil.
Márcia Pereira Alves de SouzaUnidade Neonatal Nicola Albano, HUPE/UERJ, Rio de Janeiro, Brazil.
Pricila BernardiNúcleo de Genética Clínica, Departamento de Clínica Médica/UFSC, Florianópolis, Brazil.
Ana Maria BologneseDepartamento de Ortodontia, Faculdade de Odontologia/UFRJ, Rio de Janeiro, Brazil.
Luiz Carlos Santana da SilvaInstituto Nacional de Genética Médica Populacional INAGEMP, Porto Alegre, Brazil.
Pablo BarberoRENAC, Centro Nacional de Genética Médica Dr. Eduardo E. Castilla/MS, Buenos Aires, Argentina.
Patricia Santana CorreiaECLAMC at Centro de Genética Médica, IFF/FIOCRUZ, Rio de Janeiro, Brazil.
Larissa Souza Mario BuenoComplexo Hospitalar Universitário Professor Edgard Santos, UFBA, Salvador, Brazil.
Clarice Pagani SavastanoECLAMC at Departamento de Genética, UFRJ, Rio de Janeiro, Brazil.
Iêda Maria OrioliECLAMC at Departamento de Genética, UFRJ, Rio de Janeiro, Brazil.
Universidade Federal do Rio de Janeiro · BRNational Institute on Population Medical Genetics · BRUniversidade Federal do Rio Grande do Sul · BRComplexo Hospitalar Universitário Professor Edgard Santos · BRConsejo Nacional de Investigaciones Científicas y Técnicas · ARFundação Faculdade de Odontologia · BRFundação Oswaldo Cruz · BRHospital Nacional Cayetano Heredia · PEUniversidade do Estado do Rio de Janeiro · BRUniversidade Estadual de Campinas (UNICAMP) · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Holoprosencephaly (HPE) is the failure of the embryonic forebrain to develop into 2 hemispheres promoting midline cerebral and facial defects. The wide phenotypic variability and causal heterogeneity make genetic counseling difficult. Heterozygous variants with incomplete penetrance and variable expressivity in the

Indexed as

HoloprosencephalyLatin American populationsSHHSIX3Synonymous variantsTGIF1ZIC2

Identifiers

PMID34421500
PMCPMC8339482
OpenAlexW3172464818

What OpenQuestion holds

Textmetadata
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.