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

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

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

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

COL11A1基因剪接变异是导致非综合征性听力损失DFNA37的原因

Booth, Kevin T; Askew, James W; Talebizadeh, Zohreh; Huygen, Patrick L M; Eudy, James; Kenyon, Judith; Hoover, Denise; Hildebrand, Michael S; Smith, Katherine R; Bahlo, Melanie; Kimberling, William J; Smith, Richard J H; Azaiez, Hela; Smith, Shelley D

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss

TBC1D24基因突变导致常染色体显性遗传性非综合征性听力损失

Azaiez, Hela; Booth, Kevin T; Bu, Fengxiao; Huygen, Patrick; Shibata, Seiji B; Shearer, A Eliot; Kolbe, Diana; Meyer, Nicole; Black-Ziegelbein, E Ann; Smith, Richard J H

Similar phenotypes caused by mutations in OTOG and OTOGL

OTOG 和 OTOGL 基因突变引起的表型相似

Oonk, Anne M M; Leijendeckers, Joop M; Huygen, Patrick L M; Schraders, Margit; del Campo, Miguel; del Castillo, Ignacio; Tekin, Mustafa; Feenstra, Ilse; Beynon, Andy J; Kunst, Henricus P M; Snik, Ad F M; Kremer, Hannie; Admiraal, Ronald J C; Pennings, Ronald J E

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening

AudioGene:根据表型预测听力损失基因型,以指导基因筛查

Taylor, Kyle R; Deluca, Adam P; Shearer, A Eliot; Hildebrand, Michael S; Black-Ziegelbein, E Ann; Anand, V Nikhil; Sloan, Christina M; Eppsteiner, Robert W; Scheetz, Todd E; Huygen, Patrick L M; Smith, Richard J H; Braun, Terry A; Casavant, Thomas L

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

新一代测序技术发现,编码小肌肉蛋白的SMPX基因突变(X连锁)是导致进行性听力障碍的原因。

Schraders, Margit; Haas, Stefan A; Weegerink, Nicole J D; Oostrik, Jaap; Hu, Hao; Hoefsloot, Lies H; Kannan, Sriram; Huygen, Patrick L M; Pennings, Ronald J E; Admiraal, Ronald J C; Kalscheuer, Vera M; Kunst, Henricus P M; Kremer, Hannie

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

由TECTA基因突变引起的DFNA8/12是最常见的非综合征型常染色体显性遗传性听力损失亚型。

Hildebrand, Michael S; Morín, Matías; Meyer, Nicole C; Mayo, Fernando; Modamio-Hoybjor, Silvia; Mencía, Angeles; Olavarrieta, Leticia; Morales-Angulo, Carmelo; Nishimura, Carla J; Workman, Heather; DeLuca, Adam P; del Castillo, Ignacio; Taylor, Kyle R; Tompkins, Bruce; Goodman, Corey W; Schrauwen, Isabelle; Wesemael, Maarten Van; Lachlan, K; Shearer, A Eliot; Braun, Terry A; Huygen, Patrick L M; Kremer, Hannie; Van Camp, Guy; Moreno, Felipe; Casavant, Thomas L; Smith, Richard J H; Moreno-Pelayo, Miguel A

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

纯合性作图分析揭示GRXCR1基因突变是常染色体隐性遗传非综合征型听力障碍的病因。

Schraders, Margit; Lee, Kwanghyuk; Oostrik, Jaap; Huygen, Patrick L M; Ali, Ghazanfar; Hoefsloot, Lies H; Veltman, Joris A; Cremers, Frans P M; Basit, Sulman; Ansar, Muhammad; Cremers, Cor W R J; Kunst, Henricus P M; Ahmad, Wasim; Admiraal, Ronald J C; Leal, Suzanne M; Kremer, Hannie

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

PTPRQ基因突变是常染色体隐性遗传性非综合征型听力障碍DFNB84的病因,并与前庭功能障碍相关。

Schraders, Margit; Oostrik, Jaap; Huygen, Patrick L M; Strom, Tim M; van Wijk, Erwin; Kunst, Henricus P M; Hoefsloot, Lies H; Cremers, Cor W R J; Admiraal, Ronald J C; Kremer, Hannie

A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss

COCH基因中的一种新突变——对DFNA9听力损失基因型-表型相关性的影响

Hildebrand, Michael S; Gandolfo, Luke; Shearer, A Eliot; Webster, Jennifer A; Jensen, Maren; Kimberling, William J; Stephan, Dietrich; Huygen, Patrick L M; Smith, Richard J H; Bahlo, Melanie