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

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity

CELF4基因N端区域的杂合变异(该区域对RNA结合活性至关重要)会导致神经发育障碍和肥胖。

Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T; Bilan, Frédéric; Le Guyader, Gwenaël; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlène; Lee, Kristen N; Beil, Adelyn; Suri, Mohnish; Guerin, François; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, François; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N; Wentzensen, Ingrid M; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel

Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling

有害的ZNRF3种系变异通过对Wnt/β-catenin信号通路的特定结构域影响,导致具有镜像脑表型的神经发育障碍。

Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H C; Sticht, Heinrich; Rauch, Anita

Mortality in Patients with 22q11.2 Rearrangements

22q11.2重排患者的死亡率

Cilio Arroyuelo, Melisa; Tenorio-Castano, Jair; García-Moya, Luis Fernández; Parra, Alejandro; Cazalla, Mario; Gallego, Natalia; Miranda, Lucía; Mori, María Ángeles; García-Gueretta, Luis; Labrandero, Carlos; Mansilla, Elena; Rikeros, Emi; García-Santiago, Fe; Vallcorba, Isabel; Arias, Pedro; Silván, Cristina; Deiros Bronte, Lucia; Nevado, Julián; Lapunzina, Pablo

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population

OPA1 型显性视神经萎缩:儿童人群的诊断方法

Arruti, Natalia; Rodríguez-Solana, Patricia; Nieves-Moreno, María; Guerrero-Carretero, Marta; Del Pozo, Ángela; Montaño, Victoria E F; Santos-Simarro, Fernando; Rikeros-Orozco, Emi; Delgado-Mora, Luna; Vallespín, Elena; Noval, Susana

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus

对24个西班牙家庭进行全外显子组测序:非综合征型儿童圆锥角膜的候选基因

González-Atienza, Carmen; Sánchez-Cazorla, Eloísa; Villoldo-Fernández, Natalia; Del Hierro, Almudena; Boto, Ana; Guerrero-Carretero, Marta; Nieves-Moreno, María; Arruti, Natalia; Rodríguez-Solana, Patricia; Mena, Rocío; Rodríguez-Jiménez, Carmen; Rosa-Pérez, Irene; Acal, Juan Carlos; Blasco, Joana; Naranjo-Castresana, Marta; Ruz-Caracuel, Beatriz; Montaño, Victoria E F; Ortega Patrón, Cristina; Rubio-Martín, M Esther; García-Fernández, Laura; Rikeros-Orozco, Emi; Gómez-Cano, María de Los Ángeles; Delgado-Mora, Luna; Noval, Susana; Vallespín, Elena

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Snijders-Blok-Campeau综合征:20例携带CHD3基因变异的患者的描述及文献综述

Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silván, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sánchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Martin Mesa, Carmen; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Domínguez; Seidel, Veronica; Suárez, Julia; Cormier-Daire, Valerie; Consortium, The Sogri; Nevado, Julián; Lapunzina, Pablo