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

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

RNA结合蛋白TRIM71对人类和小鼠的听觉以及听觉感觉器官的发育至关重要

Li Xiao-Jun, Morgan Charles, Duy Phan Q, Evsen Lale, Hao Le T, Machavoine Roxane, Belhous Kahina, Ernest Sylvain, Denoyelle Françoise, Mignot Cyril, Brioude Frederic, Parodi Marine, Li Lin, Huang He, Nadar Ponniah Prathamesh T, Kolanus Waldemar, Kahle Kristopher T, Marlin Sandrine, Doetzlhofer Angelika

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

CNOT3相关神经发育障碍的综合分析:表型和基因型特征

Engel, Camille; Rendek, Michaela; Assoumani, Jessica; Argilli, Emanuela; Ariani, Francesca; Avice-Denizet, Anne-Laude; Bijlsma, Emilia K; Blanc, Pierre; Bruno, Lucia Pia; Callewaert, Bert; Capra, Valeria; Carullo, Michele; Chesneau, Bertrand; Coppens, Sandra; Curry, Cynthia; Dale, Breanne; Dahlen, Eric; Delahaye-Duriez, Andrée; Denommé-Pichon, Anne-Sophie; Demeer, Bénédicte; Dvořáková, Lenka; Fischer, Jan; Geneviève, David; Giacomini, Thea; Handrup, Mette M; Heron, Delphine; Hüning, Irina; Iacomino, Michelle; Isidor, Bertrand; Keren, Boris; Kmoch, Stanislav; Koolen, David A; Kübler, Andrea; Laštůvková, Jana; Le, Carolyn; Levy, Jonathan; Rizzo, Caterina Lo; Maitz, Silvia; Marlin, Sandrine; Mignot, Cyril; Mirzaa, Ghayda; Nagel, Inga; Neuens, Sebastian; Nosková, Lenka; Pao, Emily; Pecková, Anna; Plaisancie, Julie; Porrmann, Joseph; Privitera, Flavia; Reis, André; Renieri, Alessandra; Rio, Marlène; Rippert, Alyssa; Ryba, Lukáš; Scala, Marcello; Schieving, Jolanda H; Sherr, Elliott H; Shuen, Andrew; Sidlow, Richard; Smol, Thomas; Soblet, Julie; Striano, Pasquale; Suri, Mohnish; Syryn, Hannes; Tran Mau-Them, Frédéric; Travessa, Andre M; Van Gils, Julien; Vasileiou, Georgia; Verseput, Jolijn J A; Vilain, Catheline; Vincent-Delorme, Catherine; Vyhnálková, Emílie; Wakeling, Emma L; Zacher, Pia; Zara, Federico; Kuentz, Paul; Piard, Juliette

Vestibular Deficit in Patients with Waardenburg Syndrome

瓦登堡综合征患者的前庭功能缺陷

Benifla, Mathilde; Serey-Gaut, Margaux; Bois, Emilie; Jbyeh, Salma; Teissier, Natacha; Elmaleh-Bergès, Monique; Jonard, Laurence; Pingault, Véronique; Loundon, Natalie; Belhous, Kahina; Marlin, Sandrine; Maudoux, Audrey

Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear Implants

双侧前庭导水管扩大:听觉、遗传和放射学特征以及人工耳蜗植入的益处

Vigouroux, Augustin; Glemain, Benjamin; Torres, Renato; Jonard, Laurence; Loundon, Natalie; Ferrary, Evelyne; Mosnier, Isabelle; Daoudi, Hannah; Marlin, Sandrine; Lahlou, Ghizlene

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

PLCG1基因的杂合变异会影响听力、视力、心脏和免疫功能。

Ma, Mengqi; Zheng, Yiming; Deng, Mingxi; Lu, Shenzhao; Pan, Xueyang; Luo, Xi; Etoundi, Michelle; Li-Kroeger, David; Worley, Kim C; Burrage, Lindsay C; Blieden, Lauren S; Allworth, Aimee; Chen, Wei-Liang; Merla, Giuseppe; Mandriani, Barbara; Otten, Catherine E; Blanc, Pierre; Rosenfeld, Jill A; Dutta, Debdeep; Yamamoto, Shinya; Wangler, Michael F; Glass, Ian A; Chen, Jingheng; Blue, Elizabeth; Prontera, Paolo; Rosain, Jeremie; Marlin, Sandrine; Lalani, Seema R; Bellen, Hugo J

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, Kahle Kristopher T

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

利用外耳形状对伴有小头畸形的下颌面骨发育不全进行人工智能诊断

Hennocq, Quentin; Bongibault, Thomas; Marlin, Sandrine; Amiel, Jeanne; Attie-Bitach, Tania; Baujat, Geneviève; Boutaud, Lucile; Carpentier, Georges; Corre, Pierre; Denoyelle, Françoise; Djate Delbrah, François; Douillet, Maxime; Galliani, Eva; Kamolvisit, Wuttichart; Lyonnet, Stanislas; Milea, Dan; Pingault, Véronique; Porntaveetus, Thantrira; Touzet-Roumazeille, Sandrine; Willems, Marjolaine; Picard, Arnaud; Rio, Marlène; Garcelon, Nicolas; Khonsari, Roman H

Arterial spin labeling brain MRI study to evaluate the impact of deafness on cerebral perfusion in 79 children before cochlear implantation

一项采用动脉自旋标记脑部MRI技术的研究,旨在评估耳聋对79名接受人工耳蜗植入术儿童脑灌注的影响。

Coez, Arnaud; Fillon, Ludovic; Saitovitch, Ana; Rutten, Caroline; Marlin, Sandrine; Boisgontier, Jennifer; Vinçon-Leite, Alice; Lemaitre, Hervé; Grévent, David; Roux, Charles-Joris; Dangouloff-Ros, Volodia; Levy, Raphaël; Bizaguet, Eric; Rouillon, Isabelle; Garabédian, Eréa Noël; Denoyelle, Françoise; Zilbovicius, Monica; Loundon, Natalie; Boddaert, Nathalie

Abstracts from the 15th International Myopia Conference: Wenzhou, P.R. China. 23-27 September 2015

第十五届国际近视大会摘要:中国温州,2015年9月23-27日

Bonnet, Crystel; Riahi, Zied; Chantot-Bastaraud, Sandra; Smagghe, Luce; Letexier, Mélanie; Marcaillou, Charles; Lefèvre, Gaëlle M; Hardelin, Jean-Pierre; El-Amraoui, Aziz; Singh-Estivalet, Amrit; Mohand-Saïd, Saddek; Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Gherbi, Souad; Testa, Francesco; Simonelli, Francesca; Banfi, Sandro; Fakin, Ana; Glavač, Damjan; Jarc-Vidmar, Martina; Zupan, Andrej; Battelino, Saba; Martorell Sampol, Loreto; Claveria, Maria Antonia; Catala Mora, Jaume; Dad, Shzeena; Møller, Lisbeth B; Rodriguez Jorge, Jesus; Hawlina, Marko; Auricchio, Alberto; Sahel, José-Alain; Marlin, Sandrine; Zrenner, Eberhart; Audo, Isabelle; Petit, Christine; Benavente-Perez, Alexandra; Nour, Ann; Ansel, Tobin; Abarr, Kathleen; Yan, Luying; Roden, Keisha; Troilo, David; Lu, Chanyi; Pan, Miaozhen; Zheng, Min; Qu, Jia; Zhou, Xiangtian; Wildsoet, Christine F; Lu, Fan; Zhou, Xiangtian; Chen, Jie; Bao, Jinhua; Hu, Liang; Wang, Qinmei; Jin, Zibing; Qu, Jia; Rucker, Frances; Britton, Stephanie; Hanowsky, Stephan; Spatcher, Molly; Kuo, Hui-Ying; Ke, Ching-Hsiu; Kuo, I-Hsin; Peng, Chien-Chun; Sun, Han-Yin; Morgan, Ian G; Guggenheim, Jeremy A; Shah, Rupal L; Williams, Cathy; Yang, Jinglei; Reinach, Peter S; Zhang, Sen; Pan, Miaozhen; Sun, Wenfeng; Liu, Bo; Li, Fen; Li, Xiaoqing; Zhao, Aihua; Chen, Tianlu; Jia, Wei; Qu, Jia; Zhou, Xiangtian; Jiang, Jun; Wu, Haoran; Lu, Fan; Tsubota, Kazuo; Ozawa, Hiroko; Torii, Hidemasa; Takamizawa, Shigemasa; Kurihara, Toshihide; Negishi, Kazuno; Graef, Klaus; Rathbun, Daniel; Schaeffel, Frank; Ghodsi, Ladan; Stell, William K; Pardue, Machelle T; Chakraborty, Ranjay; Park, Han na; Sidhu, Curran S; Iuvone, P Michael; Collins, Michael J; Srinvasalu, Nethrajeith; McFadden, Sally A; Baird, Paul N; Iuvone, P Michael; Artal, Pablo; Cho, Pauline; Cheung, SW; Wu, Pei-Chang; Hoang, Quan V; McFadden, Sally A; Chakraborty, Ranjay; Lee, Duk C; Landis, Erica G; Bergen, Michael A; Sidhu, Curran; Hattar, Samer; Iuvone, P Michael; Stone, Richard A; Pardue, Machelle T; Metlapally, Ravi; Li, Ruiqin; Xu, Qinglin; Zhong, Hong; Pan, Chenglin; Lan, Weizhong; Li, Xiaoning; Chen, Ling; Yang, Zhikuan; Read, Scott A; Saw, Seang-Mei; Weng, Shi-Jun; Wu, Xiao-Hua; Qian, Kang-Wei; Li, Yun-Yun; Xu, Guo-Zhong; Huang, Furong; Zhou, Xiangtian; Qu, Jia; Yang, Xiong-Li; Zhong, Yong-Mei; Smith, Earl L III; Arumugam, Baskar; Hung, Li-Fang; Ostrin, Lisa A; Trier, Klaus; Jong, Monica; Holden, Brien A; Lam, Thomas Chuen; Shan, Samantha; Zuo, Bing; McFadden, Sally A; Tse, Dennis Yan-yin; Bian, Jingfang; Li, King-Kit; Liu, Quan; To, Chi-ho; Gawne, Timothy J; Siegwart, John T Jr; Ward, Alexander H; Norton, Thomas T; Zhou, Xiangtian; Zhang, Yan; Liu, Yue; Ho, Carol; Phan, Eileen; Hang, Abraham; Eng, Emily; Wildsoet, Christine