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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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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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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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.

对与新型EYA4变异相关的DFNA10听力损失的病理生理学的深入了解

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-020-63256-5
Morín Matias, Borreguero Lucía, Booth Kevin T, Lachgar María, Huygen Patrick, Villamar Manuela, Mayo Fernando, Barrio Luis Carlos, Santos Serrão de Castro Luciana, Morales Carmelo, Del Castillo Ignacio, Arellano Beatriz, Tellería Dolores, Smith Richard J H, Azaiez Hela, Moreno Pelayo M A
其它
发表日期：2020
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Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

佩罗综合征伴神经系统特征，发生于携带两个TWNK基因突变的复合杂合子患者：TWNK相关隐性遗传疾病的重叠

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-019-2041-x
Domínguez-Ruiz, María; García-Martínez, Alberto; Corral-Juan, Marc; Pérez-Álvarez, Ángel I; Plasencia, Ana M; Villamar, Manuela; Moreno-Pelayo, Miguel A; Matilla-Dueñas, Antoni; Menéndez-González, Manuel; Del Castillo, Ignacio
发表日期：2019
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A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment

GJB2基因中一种新的剪接位点突变导致轻度语后听力障碍

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0073566
Gandía, Marta; Del Castillo, Francisco J; Rodríguez-Álvarez, Francisco J; Garrido, Gema; Villamar, Manuela; Calderón, Manuela; Moreno-Pelayo, Miguel A; Moreno, Felipe; del Castillo, Ignacio
发表日期：2013
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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

编码耳凝蛋白的基因突变是常染色体隐性遗传性非综合征型中度听力障碍的病因。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.09.012
Schraders, Margit; Ruiz-Palmero, Laura; Kalay, Ersan; Oostrik, Jaap; del Castillo, Francisco J; Sezgin, Orhan; Beynon, Andy J; Strom, Tim M; Pennings, Ronald J E; Zazo Seco, Celia; Oonk, Anne M M; Kunst, Henricus P M; Domínguez-Ruiz, María; García-Arumi, Ana M; del Campo, Miguel; Villamar, Manuela; Hoefsloot, Lies H; Moreno, Felipe; Admiraal, Ronald J C; del Castillo, Ignacio; Kremer, Hannie
发表日期：2012
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Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

听力障碍患者DFNB1基因座del(GJB6-D13S1830)突变的患病率和进化起源：一项多中心研究

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/380205
Del Castillo, Ignacio; Moreno-Pelayo, Miguel A; Del Castillo, Francisco J; Brownstein, Zippora; Marlin, Sandrine; Adina, Quint; Cockburn, David J; Pandya, Arti; Siemering, Kirby R; Chamberlin, G Parker; Ballana, Ester; Wuyts, Wim; Maciel-Guerra, Andréa Trevas; Alvarez, Araceli; Villamar, Manuela; Shohat, Mordechai; Abeliovich, Dvorah; Dahl, Hans-Henrik M; Estivill, Xavier; Gasparini, Paolo; Hutchin, Tim; Nance, Walter E; Sartorato, Edi L; Smith, Richard J H; Van Camp, Guy; Avraham, Karen B; Petit, Christine; Moreno, Felipe
发表日期：2003
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