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

Dental pulp stem cells as a promising model to study imprinting diseases

牙髓干细胞作为研究印记疾病的一种很有前景的模型

Giabicani, Eloïse; Pham, Aurélie; Sélénou, Céline; Sobrier, Marie-Laure; Andrique, Caroline; Lesieur, Julie; Linglart, Agnès; Poliard, Anne; Chaussain, Catherine; Netchine, Irène

Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells

人类诱导性多能干细胞印迹控制区甲基化谱的维持

A Pham #, C Selenou #, E Giabicani, V Fontaine, S Marteau, F Brioude, L David, D Mitanchez, M L Sobrier #, I Netchine #

Screening of patients born small for gestational age with the Silver-Russell syndrome phenotype for DLK1 variants

对出生时胎龄偏小且具有Silver-Russell综合征表型的患者进行DLK1变异筛查

Pham, Aurélie; Sobrier, Marie-Laure; Giabicani, Eloïse; Le Jules Fernandes, Marilyne; Mitanchez, Delphine; Brioude, Fréderic; Netchine, Irène

SAT-227 Long-Term Outcomes of Two Siblings with X-Linked Congenital Adrenal Hypoplasia Due to a Mutation in NR0B1 (DAX1) Gene: Reproductive and Neuropsychiatric Aspects

SAT-227 NR0B1 (DAX1) 基因突变导致的 X 连锁先天性肾上腺发育不全症两兄妹的长期预后:生殖和神经精神方面

Giovanetti, Marta; Lima de Mendonça, Marcos Cesar; Fonseca, Vagner; Mares-Guia, Maria Angélica; Fabri, Allison; Xavier, Joilson; Goes de Jesus, Jaqueline; Gräf, Tiago; Damasceno Dos Santos Rodrigues, Cintia; Cardoso Dos Santos, Carolina; Alves Sampaio, Simone; Lowen Levy Chalhoub, Flavia; de Bruycker Nogueira, Fernanda; Theze, Julien; Pecego Martins Romano, Alessandro; Garkauskas Ramos, Daniel; Luiz de Abreu, Andre; Kleber Oliveira, Wanderson; do Carmo Said, Rodrigo Fabiano; Campelo de Alburque, Carlos F; de Oliveira, Tulio; Fernandes, Carlos Augusto; Ferreira Aguiar, Shirlei; Chieppe, Alexandre; Carvalho Sequeira, Patrícia; Rodrigues Faria, Nuno; Venâncio Cunha, Rivaldo; Alcantara, Luiz Carlos Junior; Bispo de Filippis, Ana Maria; Canton, Ana Pinheiro-Machado; Steunou, Virginie; Sobrier, Marie-Laure; Montenegro, Luciana Ribeiro; Bessa, Danielle de Souza; Gomes, Larissa Garcia; Jorge, Alexander Augusto Lima; Mendonca, Berenice Bilharinho; Brito, Vinicius Nahime; Netchine, Irene; Latronico, Ana Claudia; Pereira, Hugo Valente do Couto; Seraphim, Carlos Eduardo; Domenice, Sorahia; Feitosa, Klevia Nunes; Tinano, Flávia Rezende; de Faria, Aline Guimarães; Freitas, Thais Castanheira; Nishi, Mirian Yumie; Canton, Ana Pinheiro Machado; Brito, Vinicius Nahime; Latronico, Ana Claudia; Mendonca, Berenice Bilharinho

SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis

SUN-090 通过特异性DNA甲基化分析研究特发性中枢性性早熟患儿MKRN3和DLK1基因印记缺陷

Hamat, Ibrahim; Abderraman, Guillaume Mahamat; Cisse, Mouhamadou Moustapha; Youssouf, Mahamat; Djafar, Matar Saboune; Mbainguinam, Dionadji; Fotclossou, Tara; Canton, Ana Pinheiro-Machado; Steunou, Virginie; Sobrier, Marie-Laure; Montenegro, Luciana Ribeiro; Bessa, Danielle de Souza; Gomes, Larissa Garcia; Jorge, Alexander Augusto Lima; Mendonca, Berenice Bilharinho; Brito, Vinicius Nahime; Netchine, Irene; Latronico, Ana Claudia

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders

DLK1/MEG3 域的转录分析解释了印迹障碍之间的临床重叠

Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie-Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D Harbison, Yves Le Bouc, Irène Netchine

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

对大量患有 GH 缺乏症的儿科患者进行筛查,以检测调节垂体发育和 GH 分泌的基因突变:频率、表型和生长结果

Blum Werner F, Klammt Jürgen, Amselem Serge, Pfäffle Heike M, Legendre Marie, Sobrier Marie-Laure, Luton Marie-Pierre, Child Christopher J, Jones Christine, Zimmermann Alan G, Quigley Charmian A, Cutler Gordon B Jr, Deal Cheri L, Lebl Jan, Rosenfeld Ron G, Parks John S, Pfäffle Roland W

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

与单独生长激素缺乏症相关的人类 POU1F1 突变的功能表征:IGHD 的新病因

Marie-Laure Sobrier, Yu-Cheng Tsai, Christelle Pérez, Bruno Leheup, Tahar Bouceba, Philippe Duquesnoy, Bruno Copin, Daria Sizova, Alfredo Penzo, Ben Z Stanger, Nancy E Cooke, Stephen A Liebhaber, Serge Amselem

Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene

GHRHR基因中一种新型剪接突变患者的异常表型特征

Hilal, Latifa; Hajaji, Yassir; Vie-Luton, Marie-Pierre; Ajaltouni, Zeina; Benazzouz, Bouchra; Chana, Maha; Chraïbi, Adelmajid; Kadiri, Abdelkrim; Amselem, Serge; Sobrier, Marie-Laure

Oriented scanning is the leading mechanism underlying 5' splice site selection in mammals

定向扫描是哺乳动物5'剪接位点选择的主要机制。

Borensztajn, Keren; Sobrier, Marie-Laure; Duquesnoy, Philippe; Fischer, Anne-Marie; Tapon-Bretaudière, Jacqueline; Amselem, Serge