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

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

一种新的纯合BMP15突变导致卵巢发育不全和原发性闭经

Cohen Amitay, Rossetti Raffaella, Florsheim Natan, Samson Abraham O, Renbaum Paul, Carbone Erika, Persani Luca, Levy-Lahad Ephrat, Abu-Libdeh Abdulsalam, Zangen David

A TAp63alpha truncating variant associated with primary ovarian insufficiency lowers the cellular apoptotic rate

与原发性卵巢功能不全相关的TAp63α截短变异体可降低细胞凋亡率

Moleri, Silvia; Casafina, Sara; Borghi, Maria Orietta; Persani, Luca; Rossetti, Raffaella

Primary ovarian insufficiency: update on clinical and genetic findings

原发性卵巢功能不全:临床和遗传学研究进展

Federici, Silvia; Rossetti, Raffaella; Moleri, Silvia; Munari, Elisabetta V; Frixou, Maria; Bonomi, Marco; Persani, Luca

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

罕见性发育和成熟内分泌疾病的基因诊断:Endo-ERN中心的一项调查

Persani, Luca; Cools, Martine; Ioakim, Stamatina; Faisal Ahmed, S; Andonova, Silvia; Avbelj-Stefanija, Magdalena; Baronio, Federico; Bouligand, Jerome; Bruggenwirth, Hennie T; Davies, Justin H; De Baere, Elfride; Dzivite-Krisane, Iveta; Fernandez-Alvarez, Paula; Gheldof, Alexander; Giavoli, Claudia; Gravholt, Claus H; Hiort, Olaf; Holterhus, Paul-Martin; Juul, Anders; Krausz, Csilla; Lagerstedt-Robinson, Kristina; McGowan, Ruth; Neumann, Uta; Novelli, Antonio; Peyrassol, Xavier; Phylactou, Leonidas A; Rohayem, Julia; Touraine, Philippe; Westra, Dineke; Vezzoli, Valeria; Rossetti, Raffaella

Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset

靶向二代测序表明,寡基因突变在原发性卵巢功能不全的发生中频繁发挥作用

Rossetti, Raffaella; Moleri, Silvia; Guizzardi, Fabiana; Gentilini, Davide; Libera, Laura; Marozzi, Anna; Moretti, Costanzo; Brancati, Francesco; Bonomi, Marco; Persani, Luca

Mitochondrial DNA copy number in peripheral blood: a potential non-invasive biomarker for female subfertility

外周血线粒体DNA拷贝数:一种潜在的女性不孕症非侵入性生物标志物

Busnelli, Andrea; Lattuada, Debora; Rossetti, Raffaella; Paffoni, Alessio; Persani, Luca; Fedele, Luigi; Somigliana, Edgardo

Positive selection in bone morphogenetic protein 15 targets a natural mutation associated with primary ovarian insufficiency in human.

骨形态发生蛋白 15 的正向选择针对与人类原发性卵巢功能不全相关的自然突变

Auclair Sylvain, Rossetti Raffaella, Meslin Camille, Monestier Olivier, Di Pasquale Elisa, Pascal Géraldine, Persani Luca, Fabre Stéphane

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

与原发性卵巢功能不全相关的BMP15基因突变会导致生物活性蛋白的生成缺陷。

Rossetti, Raffaella; Di Pasquale, Elisa; Marozzi, Anna; Bione, Silvia; Toniolo, Daniela; Grammatico, Paola; Nelson, Lawrence M; Beck-Peccoz, Paolo; Persani, Luca