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

De Novo Heterozygous GATA3 Missense Variant Causes an Unexpected Phenotype of Non-Syndromic Hearing Impairment with Apparently Recessive Inheritance

一种新发的杂合GATA3错义变异导致了一种意想不到的非综合征性听力障碍表型，其遗传方式似乎为隐性遗传。

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26136363
Domínguez-Ruiz, María; Garrido, Gema; Martínez-Beneyto, Paz; Del Castillo, Francisco J; Villamar, Manuela; Gómez-Rosas, Elena; Moreno-Pelayo, Miguel A; Del Castillo, Ignacio
GATA
发表日期：2025
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Sensorineural Hearing Loss in Patients With the m.1555A>G Mutation in the MTRNR1 Gene

MTRNR1基因m.1555A>G突变患者的感音神经性听力损失

期刊:Laryngoscope
影响因子:2
doi:10.1002/lary.31796
Gallo-Terán, Jaime; Salomón-Felechosa, Cristina; González-Aguado, Rocío; Onecha, Esther; Fontalba, Ana; Del Castillo, Ignacio; Morales-Angulo, Carmelo
发表日期：2025
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A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss

墨西哥一个先天性重度听力损失家族中发现GJB2基因内1259 bp的新型缺失

期刊:Audiology Research
影响因子:1.8
doi:10.3390/audiolres15050111
Oaxaca-Castillo, David; Taño-Portuondo, Laura; Rodríguez-Ballesteros, Montserrat; Pérez-Mendoza, Gerardo; García-González, Igrid; Canto-Herrera, Jorge; Domínguez-Ruiz, María; Pinto-Escalante, Doris; Vargas-Sierra, Orlando; Estrella-Castillo, Damaris; López-González, Paola; Sosa-Escalante, Javier E; Del Castillo, Ignacio; González-Herrera, Lizbeth
发表日期：2025
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Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases

由编码线粒体氨酰tRNA合成酶的基因致病变异引起的非综合征性听力障碍新病例

期刊:Genes
影响因子:2.8
doi:10.3390/genes15070951
Domínguez-Ruiz, María; Olarte, Margarita; Onecha, Esther; García-Vaquero, Irene; Gelvez, Nancy; López, Greizy; Villamar, Manuela; Morín, Matías; Moreno-Pelayo, Miguel A; Morales-Angulo, Carmelo; Polo, Rubén; Tamayo, Martha L; Del Castillo, Ignacio
线粒体
发表日期：2024
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Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment

耳声发射相关听力障碍中畸变产物耳声发射的保留

期刊:Ear and Hearing
影响因子:2.8
doi:10.1097/AUD.0000000000001421
Santarelli, Rosamaria; Scimemi, Pietro; Cama, Elona; Domínguez-Ruiz, María; Bonora, Chiara; Gallo, Chiara; Rodríguez-Ballesteros, Montserrat; Del Castillo, Ignacio
发表日期：2024
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Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects

编码立体纤毛蛋白（STRC）基因的新型致病变异导致西班牙人和阿根廷人出现非综合征性中度听力损失

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines11112943
Domínguez-Ruiz, María; Ruiz-Palmero, Laura; Buonfiglio, Paula I; García-Vaquero, Irene; Gómez-Rosas, Elena; Goñi, Marina; Villamar, Manuela; Morín, Matías; Moreno-Pelayo, Miguel A; Elgoyhen, Ana B; Del Castillo, Francisco J; Dalamón, Viviana; Del Castillo, Ignacio
发表日期：2023
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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

先天性听力障碍的基因评估：欧洲遗传性听力障碍网络的建议

期刊:Audiology Research
影响因子:1.8
doi:10.3390/audiolres13030029
Jonard, Laurence; Brotto, Davide; Moreno-Pelayo, Miguel A; Del Castillo, Ignacio; Kremer, Hannie; Pennings, Ronald; Caria, Helena; Fialho, Graça; Boudewyns, An; Van Camp, Guy; Ołdak, Monika; Oziębło, Dominika; Deggouj, Naïma; De Siati, Romolo Daniele; Gasparini, Paolo; Girotto, Giorgia; Verstreken, Margriet; Dossena, Silvia; Roesch, Sebastian; Battelino, Saba; Trebušak Podkrajšek, Katarina; Warnecke, Athanasia; Lenarz, Thomas; Lesinski-Schiedat, Anke; Mondain, Michel; Roux, Anne-Françoise; Denoyelle, Françoise; Loundon, Natalie; Serey Gaut, Margaux; Trevisi, Patrizia; Rubinato, Elisa; Martini, Alessandro; Marlin, Sandrine
发表日期：2023
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Genetics of Hearing Impairment

听力障碍的遗传学

期刊:Genes
影响因子:2.8
doi:10.3390/genes13050852
Kremer, Hannie; Del Castillo, Ignacio
发表日期：2022
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Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

OTOF基因突变引起的耳蜗突触病变可能导致稳定的轻度听力损失和严重的言语感知障碍

期刊:Ear and Hearing
影响因子:2.8
doi:10.1097/AUD.0000000000001052
Santarelli, Rosamaria; Scimemi, Pietro; Costantini, Marco; Domínguez-Ruiz, María; Rodríguez-Ballesteros, Montserrat; Del Castillo, Ignacio
神经科学
发表日期：2021
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Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene

OTOF 或 OPA1 基因突变相关听觉神经病的耳蜗电图检查

期刊:Audiology Research
影响因子:1.8
doi:10.3390/audiolres11040059
Santarelli, Rosamaria; Scimemi, Pietro; La Morgia, Chiara; Cama, Elona; Del Castillo, Ignacio; Carelli, Valerio
OPA1
发表日期：2021
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