Evidence map›Paper›PMID 33451138›Full record

ArticleInternational journal of molecular sciences2021

Homozygous

Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri and 5 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 40% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. Molecular Research in Medical Genetics.International journal of molecular sciences · 2022
    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

15 authors at 1 institution in 1 country.

Viola AlesiLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Maria Lisa DenticiMedical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-9505-5906
Silvia GenoveseLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Sara LoddoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-8837-3519
Emanuele BellacchioDepartment of Research Laboratories, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-2757-849X
Valeria OrlandoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Silvia Di TommasoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-8407-9136
Giorgia CatinoLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Chiara CalacciLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Giusy CalvieriLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Daniele PompiliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Graziamaria UbertiniEndocrine Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Bruno DallapiccolaMedical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Rossella CapolinoMedical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.
Antonio NovelliLaboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00146 Rome, Italy.ORCID 0000-0002-9037-4297
Bambino Gesù Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in

Indexed as

HomozygoteMutationAdolescentAge of OnsetAmino Acid SubstitutionCollagen Type ICollagen Type I, alpha 1 ChainDNA Mutational AnalysisFaciesGenetic Association StudiesGenetic Predisposition to DiseaseHomeodomain ProteinsHuman Growth HormoneHumansHypopituitarismMagnetic Resonance ImagingCollagen Type ICollagen Type I, alpha 1 ChainHESX1 protein, humanHomeodomain ProteinsHuman Growth HormoneCOL1A1combined pituitary hormone deficiencyCPHDE1361KHESX1osteoporosisQ6H

Identifiers

PMID33451138
PMCPMC7828579
OpenAlexW3120081802

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.