日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Overexpression of SOX3 due to an X chromosome inversion leading to ovotesticular difference in sex development

由于X染色体倒位导致SOX3过度表达，进而引起性发育中的卵睾差异

期刊:Biology of Sex Differences
影响因子:5.1
doi:10.1186/s13293-025-00822-4
Nascimento-Vidoti, Carolina Gama; Fabbri-Scallet, Helena; Guaragna, Mara Sanches; de Wallau, Melissa Bittencourt; de Souza, Vanessa Sodré; da Costa, Silvia Souza; Krepischi, Ana Cristina Victorino; Mazzeu, Juliana Forte; Carvalho, Claudia M B; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; Vieira, Társis Paiva
发育与干细胞
SOX
发表日期：2026
文献求助 收藏

Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis

通过转录组分析探索性别发育表型差异的潜在基因表达谱

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-026-38435-5
Fabbri-Scallet, Helena; Calonga-Solís, Verónica; Guerra-Júnior, Gil; de Mello, Maricilda Palandi; Maciel-Guerra, Andréa Trevas; Miranda, Márcio Lopes; Antolini-Tavares, Arthur; Busch, Hauke; Künstner, Axel; Werner, Ralf; Hiort, Olaf
发育与干细胞
发表日期：2026
文献求助 收藏

Replication of Missense OTOG Gene Variants in a Brazilian Patient with Menière's Disease

在一名患有梅尼埃病的巴西患者中复制错义OTOG基因变异

期刊:Genes
影响因子:2.8
doi:10.3390/genes16060654
Bianco-Bortoletto, Giselle; Almeida-Carneiro, Geovana; Fabbri-Scallet, Helena; Parra-Perez, Alberto M; Lopes, Karen de Carvalho; Vieira, Tatiana de Almeida Lima Sá; Ganança, Fernando Freitas; Amor-Dorado, Juan Carlos; Soto-Varela, Andres; Lopez-Escamez, Jose A; Sartorato, Edi Lucia
发表日期：2025
文献求助 收藏

Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing

未明确性别定义的生殖器畸形患者：临床表现与确定抚养性别之间的关系

期刊:Jornal De Pediatria
影响因子:2.5
doi:10.1016/j.jped.2024.05.001
Santos, Henrique C; Barros, Beatriz A; El-Beck, Mayra S; Miranda, Marcio L; Guaragna, Mara S; Fabbri-Scallet, Helena; Mazzola, Taís N; Vieira, Tarsis P; Mello, Maricilda P; Marques-de-Faria, Antonia P; Maciel-Guerra, Andrea T; Guerra-Junior, Gil
发表日期：2024
文献求助 收藏

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

在46,XY部分性腺发育不全患者中发现DHX37和NR5A1变异

期刊:Life-Basel
影响因子:3.4
doi:10.3390/life13051093
de Oliveira, Felipe Rodrigues; Mazzola, Taís Nitsch; de Mello, Maricilda Palandi; Francese-Santos, Ana Paula; Lemos-Marini, Sofia Helena V de; Maciel-Guerra, Andrea Trevas; Hiort, Olaf; Werner, Ralf; Guerra-Junior, Gil; Fabbri-Scallet, Helena
发育与干细胞
免疫/内分泌
发表日期：2023
文献求助 收藏

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

以46,XY部分性腺发育不全（无NR0B1重复）病例为例，对剂量敏感的性染色体位点Xp21.2进行全新解读

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms24010494
Francese-Santos, Ana Paula; Meinel, Jakob A; Piveta, Cristiane S C; Andrade, Juliana G R; Barros, Beatriz A; Fabbri-Scallet, Helena; Gil-da-Silva-Lopes, Vera Lúcia; Guerra-Junior, Gil; Künstner, Axel; Busch, Hauke; Hiort, Olaf; de Mello, Maricilda P; Werner, Ralf; Maciel-Guerra, Andréa T
发育与干细胞
免疫/内分泌
发表日期：2022
文献求助 收藏

So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity

那么，如果不是先天性肾上腺增生症呢？如何处理未确诊的生殖器畸形病例？

期刊:Italian Journal of Pediatrics
影响因子:3.1
doi:10.1186/s13052-022-01284-9
de Omena Filho, Reinaldo Luna; Petroli, Reginaldo José; Soardi, Fernanda Caroline; de Paula Michelatto, Débora; Mazzola, Taís Nitsch; Fabbri-Scallet, Helena; de Mello, Maricilda Palandi; Zanotti, Susane Vasconcelos; Gubert, Ida Cristina; Monlleo, Isabella
免疫/内分泌
发表日期：2022
文献求助 收藏

MYRF: A New Regulator of Cardiac and Early Gonadal Development-Insights from Single Cell RNA Sequencing Analysis

MYRF：心脏和早期性腺发育的新调控因子——来自单细胞RNA测序分析的启示

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm11164858
Calonga-Solís, Verónica; Fabbri-Scallet, Helena; Ott, Fabian; Al-Sharkawi, Mostafa; Künstner, Axel; Wünsch, Lutz; Hiort, Olaf; Busch, Hauke; Werner, Ralf
发育与干细胞
信号转导
免疫/内分泌
细胞生物学
单细胞
发表日期：2022
文献求助 收藏

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study

染色体异常与病因不明导致的非梗阻性无精子症的临床和实验室差异：一项回顾性研究

期刊:Sao Paulo Medical Journal
影响因子:1.6
doi:10.1590/1516-3180.2022.0281.R1.30082022
Riccetto, Luísa; Vieira, Tarsis Paiva; Viguetti-Campos, Nilma Lucia; Mazzola, Tais Nitsch; Guaragna, Mara Sanches; Fabbri-Scallet, Helena; Mello, Maricilda Palandi de; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andrea Trevas; Guerra Junior, Gil
发表日期：2022
文献求助 收藏

Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service

儿科医生为何需要了解性发育障碍：一家专科机构709例病例的经验

期刊:Jornal De Pediatria
影响因子:2.5
doi:10.1016/j.jped.2019.04.007
Beck, Mayra de Souza El; Germano, Carlos W; Barros, Beatriz A; Andrade, Juliana G R; Guaragna-Filho, Guilherme; Paula, Georgette B; Miranda, Márcio L; Guaragna, Mara S; Fabbri-Scallet, Helena; Mazzola, Tais N; Viguetti-Campos, Nilma L; Vieira, Társis A P; Lemos-Marini, Sofia H V; Marques-de-Faria, Antonia P; Silva, Roberto B Paiva E; Mello, Maricilda P; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil
发育与干细胞
发表日期：2020
文献求助 收藏