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

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

在患有垂体激素联合缺乏症的患者中发现的FGFR1和PROKR2罕见变异

Correa, Fernanda A; Trarbach, Ericka B; Tusset, Cintia; Latronico, Ana Claudia; Montenegro, Luciana R; Carvalho, Luciani R; Franca, Marcela M; Otto, Aline P; Costalonga, Everlayny F; Brito, Vinicius N; Abreu, Ana Paula; Nishi, Mirian Y; Jorge, Alexander A L; Arnhold, Ivo J P; Sidis, Yisrael; Pitteloud, Nelly; Mendonca, Berenice B

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients

在促性腺激素释放激素缺乏症患者中,TACR3 突变通过不同的机制破坏 NK3R 功能。

Noel, Sekoni D; Abreu, Ana Paula; Xu, Shuyun; Muyide, Titilayo; Gianetti, Elena; Tusset, Cintia; Carroll, Jessica; Latronico, Ana Claudia; Seminara, Stephanie B; Carroll, Rona S; Kaiser, Ursula B

[Clinical, laboratorial and radiographic predictors of Bordetella pertussis infection]

[百日咳杆菌感染的临床、实验室和放射学预测指标]

Bellettini, Camila Vieira; de Oliveira, Andressa Welter; Tusset, Cintia; Baethgen, Ludmila Fiorenzano; Amantéa, Sérgio Luís; Motta, Fabrizio; Gasparotto, Aline; Andreolla, Huander Felipe; Pasqualotto, Alessandro C

Absence of functional LIN28B mutations in a large cohort of patients with idiopathic central precocious puberty.

在一大群特发性中枢性性早熟患者中未发现功能性 LIN28B 突变

Silveira-Neto Acácio P, Leal Leticia Ferro, Emerman Amy B, Henderson Katherine D, Piskounova Elena, Henderson Brian E, Gregory Richard I, Silveira Letícia F Gontijo, Hirschhorn Joel N, Nguyen Thutrang T, Beneduzzi Daiane, Tusset Cintia, Reis Ana Claudia S, Brito Vinicius N, Mendonca Berenice B, Palmert Mark R, Antonini Sonir R, Latronico Ana Claudia

Mutational analysis of the necdin gene in patients with congenital isolated hypogonadotropic hypogonadism

先天性孤立性促性腺激素低下性性腺功能减退症患者necdin基因突变分析

Beneduzzi, Daiane; Iyer, Anita K; Trarbach, Ericka Barbosa; Silveira-Neto, Acacio P; Silveira, Letícia G; Tusset, Cintia; Yip, Kathleen; Mendonça, Berenice B; Mellon, Pamela L; Latronico, Ana Claudia

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

TAC3/TACR3 突变揭示了新生儿期神经激肽 B 优先激活促性腺激素释放激素释放,随后在成年期逆转。

Gianetti, Elena; Tusset, Cintia; Noel, Sekoni D; Au, Margaret G; Dwyer, Andrew A; Hughes, Virginia A; Abreu, Ana Paula; Carroll, Jessica; Trarbach, Ericka; Silveira, Leticia F G; Costa, Elaine M F; de Mendonça, Berenice Bilharinho; de Castro, Margaret; Lofrano, Adriana; Hall, Janet E; Bolu, Erol; Ozata, Metin; Quinton, Richard; Amory, John K; Stewart, Susan E; Arlt, Wiebke; Cole, Trevor R; Crowley, William F; Kaiser, Ursula B; Latronico, Ana Claudia; Seminara, Stephanie B