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

ImprintCap, a powerful NGS-based technology to investigate the molecular background of imprinting disorders

ImprintCap 是一种强大的基于新一代测序 (NGS) 的技术,用于研究印记障碍的分子背景。

Brioude, Frédéric; Haagmans, Martin A; Mannens, Marcel; Netchine, Irene; Alders, Marielle; Henneman, Peter; Bliek, Jet

Hypomethylation of the MEG8:Int2-DMR in patients with pathogenic PLAG1 variants suggests new role of the chr14q32 imprinting cluster in Silver-Russell syndrome

在携带致病性PLAG1变异的患者中,MEG8:Int2-DMR的低甲基化提示14q32染色体印记簇在Silver-Russell综合征中发挥新的作用。

D'Angelo, Emilia; Pignata, Laura; Cecere, Francesco; Vimercati, Alessandro; Cubellis, Maria Vittoria; Saadat, Abu; Giaccari, Carlo; Thibaud, Nathalie; Eggermann, Thomas; Fernández-Fructuoso, Jose Ramon; Russo, Silvia; Netchine, Irène; Cerrato, Flavia; Riccio, Andrea; Brioude, Frédéric

EndoCompass Project: Research Roadmap for Growth Disorders

EndoCompass项目:生长障碍研究路线图

Gevers, Evelien F; Hokken-Koelega, Anita C; Tauber, Maithe; Binder, Gerhard; Bochukova, Elena G; Bouret, Sebastien G; Caixàs, Assumpta; Davies, Justin H; Dauber, Andrew; Edouard, Thomas; Eggermann, Thomas; Giabicani, Eloise; Netchine, Irène; Nilsson, Ola; Saravinovska, Kristina; van der Steen, Manouk; Tartaglia, Marco; Tatton-Brown, Katrina; Temple, I Karen; Yart, Armelle; Zenker, Martin

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

多位点印记紊乱(MLID):临床和分子诊断临时联合声明

Mackay, Deborah J G; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M; Kalish, Jennifer M; Maas, Saskia M; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project

临床网络中罕见内分泌疾病的电子报告:EuRRECa 项目的结果

Ali, S R; Bryce, J; Priego-Zurita, A L; Cherenko, M; Smythe, C; de Rooij, T M; Cools, M; Danne, T; Katugampola, H; Dekkers, O M; Hiort, O; Linglart, A; Netchine, I; Nordenstrom, A; Attila, P; Persani, L; Reisch, N; Smyth, A; Sumnik, Z; Taruscio, D; Visser, W E; Pereira, A M; Appelman-Dijkstra, N M; Ahmed, S F

Executive functioning in adolescents and adults with Silver-Russell syndrome

Silver-Russell综合征青少年和成人的执行功能

Burgevin, Mélissa; Lacroix, Agnès; Ollivier, Fanny; Bourdet, Karine; Coutant, Régis; Donadille, Bruno; Faivre, Laurence; Manouvrier-Hanu, Sylvie; Petit, Florence; Thauvin-Robinet, Christel; Toutain, Annick; Netchine, Irène; Odent, Sylvie

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

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

特纳综合征:法国国家诊断和护理方案(NDCP;国家诊断和护理方案)

Fiot, Elodie; Alauze, Bertille; Donadille, Bruno; Samara-Boustani, Dinane; Houang, Muriel; De Filippo, Gianpaolo; Bachelot, Anne; Delcour, Clemence; Beyler, Constance; Bois, Emilie; Bourrat, Emmanuelle; Bui Quoc, Emmanuel; Bourcigaux, Nathalie; Chaussain, Catherine; Cohen, Ariel; Cohen-Solal, Martine; Da Costa, Sabrina; Dossier, Claire; Ederhy, Stephane; Elmaleh, Monique; Iserin, Laurence; Lengliné, Hélène; Poujol-Robert, Armelle; Roulot, Dominique; Viala, Jerome; Albarel, Frederique; Bismuth, Elise; Bernard, Valérie; Bouvattier, Claire; Brac, Aude; Bretones, Patricia; Chabbert-Buffet, Nathalie; Chanson, Philippe; Coutant, Regis; de Warren, Marguerite; Demaret, Béatrice; Duranteau, Lise; Eustache, Florence; Gautheret, Lydie; Gelwane, Georges; Gourbesville, Claire; Grynberg, Mickaël; Gueniche, Karinne; Jorgensen, Carina; Kerlan, Veronique; Lebrun, Charlotte; Lefevre, Christine; Lorenzini, Françoise; Manouvrier, Sylvie; Pienkowski, Catherine; Reynaud, Rachel; Reznik, Yves; Siffroi, Jean-Pierre; Tabet, Anne-Claude; Tauber, Maithé; Vautier, Vanessa; Tauveron, Igor; Wambre, Sebastien; Zenaty, Delphine; Netchine, Irène; Polak, Michel; Touraine, Philippe; Carel, Jean-Claude; Christin-Maitre, Sophie; Léger, Juliane

Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot

先天性肾上腺皮质增生症新生儿筛查缺陷分析:干血斑检测出母亲使用皮质类固醇的证据

Houang, Muriel; Nguyen-Khoa, Thao; Eguether, Thibaut; Ribault, Bettina; Brabant, Séverine; Polak, Michel; Netchine, Irène; Lamazière, Antonin

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 #