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

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

努南综合征及相关疾病24例患者的基因型-表型分析及新的临床发现

期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000545410
Corso, Bruna Miranda; Simões, Luiza de Oliveira; de Oliveira, Karina Montemor Klegen; Dos Santos, Ana Mondadori; Angeloni, Luise Longo; de Oliveira Sobrinho, Ruy Pires; Gil-da-Silva-Lopes, Vera Lúcia; Marques-de-Faria, Antonia Paula; Maciel Guerra, Andréa Trevas; Guerra-Junior, Gil; Jorge, Alexander Augusto de Lima; Quedas, Elisângela Pereira de Souza; Silveira, Henrique Garcia; Toccoli, Giovana; Melaragno, Maria Isabel; Guaragna, Mara Sanches; Steiner, Carlos Eduardo
发表日期：2026
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A Series of Patients with Genodermatoses in a Reference Service for Rare Diseases: Results from the Brazilian Rare Genomes Project

罕见病参考服务中心遗传性皮肤病患者系列研究：来自巴西罕见基因组计划的结果

期刊:Genes
影响因子:2.8
doi:10.3390/genes16050522
Steiner, Carlos Eduardo; Puzzi, Maria Beatriz; Marques-de-Faria, Antonia Paula; de Oliveira Sobrinho, Ruy Pires; Gil-da-Silva-Lopes, Vera Lúcia; Moreno, Carolina Araújo; The Rare Genomes Project Consortium
发表日期：2025
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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
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Correlation between genetic and environmental risk factors for age-related macular degeneration in Brazilian patients

巴西患者年龄相关性黄斑变性的遗传和环境风险因素之间的相关性

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0268795
Rim, Priscila H H; de Vasconcellos, José Paulo C; de Melo, Mônica B; Medina, Flavio M C; Sacconi, Daniela P D; Lana, Tamires P; Hirata, Fabio E; Magna, Luis A; Marques-de-Faria, Antonia P
发表日期：2022
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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
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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
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408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

23年间，一个多学科团队对408例生殖器畸形病例进行随访：病因诊断和抚养性别

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2016/4963574
De Paula, Georgette Beatriz; Barros, Beatriz Amstalden; Carpini, Stela; Tincani, Bruna Jordan; Mazzola, Tais Nitsch; Sanches Guaragna, Mara; Piveta, Cristiane Santos da Cruz; de Oliveira, Laurione Candido; Andrade, Juliana Gabriel Ribeiro; Guaragna-Filho, Guilherme; Barbieri, Pedro Perez; Ferreira, Nathalia Montibeler; Miranda, Marcio Lopes; Gonçalves, Ezequiel Moreira; Morcillo, Andre Moreno; Viguetti-Campos, Nilma Lucia; Lemos-Marini, Sofia Helena Valente; Silva, Roberto Benedito de Paiva; Marques-de-Faria, Antonia Paula; De Mello, Maricilda Palandi; Maciel-Guerra, Andrea Trevas; Guerra-Junior, Gil
发表日期：2016
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Erratum to: Genetic services and testing in Brazil

勘误：巴西的基因服务和检测

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-012-0108-y
Horovitz, Dafne Dain Gandelman; de Faria Ferraz, Victor Evangelista; Dain, Sulamis; Marques-de-Faria, Antonia Paula
发表日期：2013
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Genetic services and testing in Brazil

巴西的基因服务和检测

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-012-0096-y
Horovitz, Dafne Dain Gandelman; de Faria Ferraz, Victor Evangelista; Dain, Sulamis; Marques-de-Faria, Antonia Paula
发表日期：2013
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Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

临床和实验室特征可用于区分由部分雄激素不敏感和 5α-还原酶 2 型缺乏引起的 46,XY 性发育异常

期刊:International Journal of Endocrinology
影响因子:2.3
doi:10.1155/2012/964876
Veiga-Junior, Nélio Neves; Medaets, Pedro Augusto Rodrigues; Petroli, Reginaldo José; Calais, Flávia Leme; de Mello, Maricilda Palandi; Castro, Carla Cristina Telles de Sousa; Guaragna-Filho, Guilherme; Sewaybricker, Letícia Espósito; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andréa Trevas; Guerra-Junior, Gil
发育与干细胞
免疫/内分泌
发表日期：2012
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