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

Molecular characterization of Alkaptonuria in Brazilian patients

巴西患者尿黑酸症的分子特征

Palla, F; Melfi, R; Anello, L; Di Bernardo, M; Spinelli, G; Moreno, Carolina Araújo; de Oliveira Sobrinho, Ruy Pires; Jorente, Josep; Appenzeller, Simone; Meira, Nelma Gláucia Silva; Costa, Lucas Cadete Caldeira; Acosta, Angelina Xavier; Guaragna, Mara Sanches; Steiner, Carlos Eduardo

ACTN4 p.Ile150Met Causes FSGS With Validation in Primary Fibroblasts and Immortalized Podocytes

ACTN4 p.Ile150Met 突变导致 FSGS,并在原代成纤维细胞和永生化足细胞中得到验证

Grosch, Melanie; Haak, Jan René; Kolb, Cathiana; Plogmann, Izabela; Guaragna, Mara Sanches; Wiesener, Antje; Pasutto, Francesca; Wopperer, Florian J; Pollinger, Lena; Engel, Felix B; Wiesener, Michael S; Schiffer, Mario; Jobst-Schwan, Tilman

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

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

Twelve Brazilian families with X-linked Congenital Adrenal Hypoplasia: new rearrangements and new variants in the NR0B1 gene

12个患有X连锁先天性肾上腺发育不全的巴西家族:NR0B1基因的新重排和新变异

Esquiaveto-Aun, Adriana Mangue; de Lemos-Marini, Sofia Helena Valente; Guaragna, Mara Sanches; Mazzola, Taís Nitsch; de Ferran, Karina; Berardo, Renata Szundy; Gilban, Daniel Luis Schueftan; Schnaider, Gabrielle Sormanti; Kopacek, Cristiane; Madeira, Isabel Rey; Nascimento, Marilza Leal; de Mello, Maricilda Palandi; Guerra-Junior, Gil

Molecular characterization of Alkaptonuria in Brazilian patients

巴西患者尿黑酸症的分子特征

Moreno, Carolina Araújo; de Oliveira Sobrinho, Ruy Pires; Jorente, Josep; Appenzeller, Simone; Meira, Nelma Gláucia Silva; Costa, Lucas Cadete Caldeira; Acosta, Angelina Xavier; Guaragna, Mara Sanches; Steiner, Carlos Eduardo

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

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

Epidemiology of Pediatric Nephrotic Syndrome: Real-World Data from Brazil

儿童肾病综合征的流行病学:来自巴西的真实世界数据

Koch-Nogueira, Paulo Cesar; de Santis Feltran, Luciana; Carvalho de Camargo, Maria Fernanda; Martins, Débora Villar; Pesquero, João Bosco; Varela, Patricia; Watanabe, Andreia; Guaragna, Mara Sanches; Santoro Belangero, Vera Maria; Onuchic, Luiz Fernando

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population

在高度混杂的儿童人群中,类固醇抵抗性肾病综合征与独特的遗传特征相关

Watanabe, Andreia; Miranda de Menezes Neves, Precil Diego; Nunes, Kelly; Lerario, Antonio Marcondes; Watanabe, Elieser Hitoshi; Ferreira, Frederico Moraes; Avancini Costa Malheiros, Denise Maria; de Moraes Narcizo, Amanda; Guaragna, Mara Sanches; de Almeida Araujo, Stanley; Cruz, Thais Medeiros; Fontes, Jussara Soares; Santoro Belangero, Vera Maria; Vaisbich, Maria Helena; Hildebrandt, Friedhelm; Sampson, Matthew Gordon; Onuchic, Luiz Fernando

Syndromic Retinitis Pigmentosa: A 15-Patient Study

综合征型视网膜色素变性:一项15例患者的研究

Holanda, Ianne Pessoa; Rim, Priscila Hae Hyun; Rare Genomes Project Consortium; Guaragna, Mara Sanches; Gil-da-Silva-Lopes, Vera Lúcia; Steiner, Carlos Eduardo

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

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