Evidence map›Paper›PMID 37443631›Full record

ArticleDiagnostics (Basel, Switzerland)2023

Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.

José Antonio Diniz Faria, Daniela R Moraes, Leslie Domenici Kulikowski, Rafael Loch Batista, Nathalia Lisboa Gomes, Mirian Yumie Nishi, Evelin Zanardo, Carolina Kymie Vasques Nonaka, Bruno Solano de Freitas Souza, Berenice Bilharinho Mendonca and 1 more

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

Article in Diagnostics (Basel, Switzerland), 2023. 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
1.1field-weighted citation impact, top 23% 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, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Observational
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 3 institutions in 1 country.

José Antonio Diniz FariaFaculdade de Medicina, Universidade Federal da Bahia, Salvador 40110-909, Brazil.
Daniela R MoraesUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.
Leslie Domenici KulikowskiLaboratório de Citogenômica e Patologia Molecular LIM/03, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.ORCID 0000-0003-2236-3956
Rafael Loch BatistaUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.ORCID 0000-0002-5461-0301
Nathalia Lisboa GomesUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.ORCID 0000-0002-1072-7903
Mirian Yumie NishiUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.ORCID 0000-0001-6603-3188
Evelin ZanardoLaboratório de Citogenômica e Patologia Molecular LIM/03, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.
Carolina Kymie Vasques NonakaCentro de Biotecnologia e Terapia Celular, Hospital São Rafael, Salvador 41253-190, Brazil.
Bruno Solano de Freitas SouzaCentro de Biotecnologia e Terapia Celular, Hospital São Rafael, Salvador 41253-190, Brazil.
Berenice Bilharinho MendoncaUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.
Sorahia DomeniceUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-010, Brazil.
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRD’Or Institute for Research and Education · BRUniversidade Federal da Bahia · BR

Funding

CNPq 303002/2016-6São Paulo Research Foundation 2013/02162-8
6 · The paper itself

Abstract

backgroundCytogenomic methods have gained space in the clinical investigation of patients with disorders/differences in sexual development (DSD). Here we evaluated the role of the SNP array in achieving a molecular diagnosis in Brazilian patients with syndromic DSD of unknown etiology.

methodsTwenty-two patients with DSD and syndromic features were included in the study and underwent SNP-array analysis.

resultsIn two patients, the diagnosis of 46,XX

conclusionsThe SNP array is a useful tool for DSD patients, identifying the molecular etiology in 40% (2/5) of patients with 46,XX DSD and 17.6% (3/17) of patients with 46,XY DSD.

Indexed as

copy number variationdisorders of sexual developmentSNP array

Identifiers

PMID37443631
PMCPMC10340279
OpenAlexW4382653218

What Socratic 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 Socratic graph.