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

THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome

THU211 新型 SIN3A 功能缺失变异体可能是 Witteveen-Kolk 综合征中低促性腺激素性性腺功能减退症的致病因素

Beltrán, Juan F; Rodríguez-Rodríguez, Eduardo J; Batista, Rafael Loch; Ramos, Raquel M; Afonso, Ana Caroline F; Petroli, Reginaldo J; Nishi, Mirian Yumie; Martins Ferrari, Maria Tereza; Domenice, Sorahia; Mendonca, Berenice Bilharinho; Correa Brito, Lourdes Magdalena; Keselman, Ana Claudia; Sanguineti, Nora Maria; Scaglia, Paula Alejandra; Azcoiti, María Esnaola; Villegas, Florencia; Maier, Marianela; Bergada, Ignacio; Ropelato, Maria Gabriela; Rey, Rodolfo A

Bone Marrow-Derived Stem Cell Populations Are Differentially Regulated by Thyroid or/and Ovarian Hormone Loss

骨髓来源干细胞群受甲状腺激素和/或卵巢激素缺失的差异性调控

Mogharbel, Bassam F; Abdelwahid, Eltyeb; Irioda, Ana C; Francisco, Julio C; Simeoni, Rossana B; de Souza, Daiany; de Souza, Carolina M C O; Beltrame, Míriam P; Ferreira, Reginaldo J; Guarita-Souza, Luiz C; de Carvalho, Katherine A T

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

巴西一个家族中由雄激素受体基因p.L830F新突变引起的严重部分雄激素不敏感综合征

Petroli, Reginaldo J; Maciel-Guerra, Andréa T; Soardi, Fernanda C; de Calais, Flávia L; Guerra-Junior, Gil; de Mello, Maricilda Palandi

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

巴西21-羟化酶缺乏症患者中发现携带CYP21A1P/A2嵌合基因的新型缺失等位基因

Coeli, Fernanda B; Soardi, Fernanda C; Bernardi, Renan D; de Araújo, Marcela; Paulino, Luciana C; Lau, Ivy F; Petroli, Reginaldo J; de Lemos-Marini, Sofia H V; Baptista, Maria T M; Guerra-Júnior, Gil; de-Mello, Maricilda P