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Select item 109856611.

苏栋, 娄凡, 黄锐, 李霞, 林垦, 李果, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Nov 3; 37(11): 909–915. Chinese. doi: 10.13201/j.issn.2096-7993.2023.11.010

PMCID:: PMC10985661

Article PDF–4.7M

Select item 105193752.

Genotype-phenotype correlations for SLC26A4-related deafness

Hela Azaiez, Tao Yang, Sai Prasad, Jessica L. Sorensen, Carla J. Nishimura, Richard J. H. Smith

Hum Genet. Author manuscript; available in PMC 2023 Sep 25.

Published in final edited form as: Hum Genet. 2007 Dec; 122(5): 451–457. Published online 2007 Aug 10. doi: 10.1007/s00439-007-0415-2

PMCID:: PMC10519375

Article PDF–681K

Select item 102683613.

Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4^-/- mouse

Jin-Young Koh, Corentin Affortit, Paul T. Ranum, Cody West, William D. Walls, Hidekane Yoshimura, Jian Q. Shao, Brian Mostaert, Richard J.H. Smith

BMC Med Genomics. 2023; 16: 133. Published online 2023 Jun 15. doi: 10.1186/s12920-023-01549-0

PMCID:: PMC10268361

Article PDF–11M

Select item 101373944.

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia)

Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh

Genes (Basel) 2023 Apr; 14(4): 928. Published online 2023 Apr 17. doi: 10.3390/genes14040928

PMCID:: PMC10137394

Article PDF–2.7M

Select item 101285595.

前庭水管扩大患者颞骨高分辨率CT和SLC26A4基因及听力损失的相关性研究

赵质彬, 祝园平, 符一飞, 姜鸿彦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct 3; 36(10): 736–740. Chinese. doi: 10.13201/j.issn.2096-7993.2022.10.002

PMCID:: PMC10128559

Article PDF–763K

Select item 101278736.

42例迟发性非综合征性耳聋患者基因型与临床表型分析

牛文侠, 许慧娟, 秦利涛, 王广科, 丁韶洸, 谢存存, 贾晓东, 刘宏建

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Feb 5; 35(2): 131–136. Chinese. doi: 10.13201/j.issn.2096-7993.2021.02.009

PMCID:: PMC10127873

Article PDF–787K

Select item 101277027.

SLC26A4基因在大前庭水管综合征和/或Mondini畸形患儿中突变频率的观察

刘亚青, 黄正华, 孙晨, 沈小飞, 李伟, 李琦

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Oct 5; 35(10): 891–895. Chinese. doi: 10.13201/j.issn.2096-7993.2021.10.006

PMCID:: PMC10127702

Article PDF–2.1M

Select item 99574118.

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

Genes (Basel) 2023 Feb; 14(2): 335. Published online 2023 Jan 28. doi: 10.3390/genes14020335

PMCID:: PMC9957411

Article PDF–957K

Select item 97783699.

SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management

Mohamed Tawalbeh, Dunia Aburizeg, Bayan O. Abu Alragheb, Wala Sami Alaqrabawi, Zain Dardas, Luma Srour, Baraah Hatem Altarayra, Ayman A. Zayed, Zaid El Omari, Bilal Azab

Genes (Basel) 2022 Dec; 13(12): 2192. Published online 2022 Nov 23. doi: 10.3390/genes13122192

PMCID:: PMC9778369

Article PDF–2.2M

Select item 974009510.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372

PMCID:: PMC9740095

Article PDF–2.1M

Select item 973641111.

Distant Recurrence of a Cerebral Cavernous Malformation in the Vicinity of a Developmental Venous Anomaly: Case Report of Local Oxy-Inflammatory Events

Andrea Bianconi, Luca Francesco Salvati, Andrea Perrelli, Chiara Ferraris, Armando Massara, Massimiliano Minardi, Gelsomina Aruta, Miriam Rosso, Barbara Massa Micon, Diego Garbossa, Saverio Francesco Retta

Int J Mol Sci. 2022 Dec; 23(23): 14643. Published online 2022 Nov 24. doi: 10.3390/ijms232314643

PMCID:: PMC9736411

Article PDF–1.7M

Select item 945062212.

Enlarged vestibular aqueduct syndrome: report of 3 cases and literature review

José A. Pinto, Carlos Fernando Mello, Junior, Ana Carla S. Marqui, Delmer J. Perfeito, Roberto D.P. Ferreira, Rubens H. Silva

Braz J Otorhinolaryngol. 2005 May-Jun; 71(3): 386–391. Published online 2015 Oct 20. doi: 10.1016/S1808-8694(15)31342-2

PMCID:: PMC9450622

Article PDF–389K

Select item 929652413.

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

Young Seok Kim, Yoonjoong Kim, Hyoung Won Jeon, Nayoung Yi, Sang-Yeon Lee, Yehree Kim, Jin Hee Han, Min Young Kim, Bo Hye Kim, Hyeong Yun Choi, Marge Carandang, Ja-Won Koo, Bong Jik Kim, Yun Jung Bae, Byung Yoon Choi

Sci Rep. 2022; 12: 12335. Published online 2022 Jul 19. doi: 10.1038/s41598-022-16421-x

PMCID:: PMC9296524

Article PDF–1.0M

Select item 927074114.

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

Xiaohui He, Shaozhi Zhao, Lin Shi, Yitong Lu, Yintong Yang, Xinwen Zhang

BMC Med Genomics. 2022; 15: 152. Published online 2022 Jul 8. doi: 10.1186/s12920-022-01271-3

PMCID:: PMC9270741

Article PDF–1.2M

Select item 922232515.

Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China

Chunchun Hu, Linlin He, Huiping Li, Yanhua Ding, Kaifeng Zhang, Dongyun Li, Guoqing Zhu, Bingbing Wu, Xiu Xu, Qiong Xu

Genes (Basel) 2022 Jun; 13(6): 1010. Published online 2022 Jun 2. doi: 10.3390/genes13061010

PMCID:: PMC9222325

Article PDF–1.3M

Select item 903500816.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

Jeroen J. Smits, Suzanne E. de Bruijn, Cornelis P. Lanting, Jaap Oostrik, Luke O’Gorman, Tuomo Mantere, DOOFNL Consortium, Frans P. M. Cremers, Susanne Roosing, Helger G. Yntema, Erik de Vrieze, Ronny Derks, Alexander Hoischen, Sjoert A. H. Pegge, Kornelia Neveling, Ronald J. E. Pennings, Hannie Kremer

Hum Genet. 2022; 141(3-4): 465–484. Published online 2021 Aug 19. doi: 10.1007/s00439-021-02336-6

Correction in:: Hum Genet. 2022; 141(3-4): 991.

PMCID:: PMC9035008

Article PDF–1.6M

Select item 889848717.

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun

BMC Med Genomics. 2022; 15: 49. Published online 2022 Mar 6. doi: 10.1186/s12920-022-01200-4

PMCID:: PMC8898487

Article PDF–1.4M

Select item 844927818.

Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China

Qing-Wen Zhu, Mu-Ting Li, Xun Zhuang, Kai Chen, Wan-Qing Xu, Yin-Hua Jiang, Gang Qin

JAMA Netw Open. 2021 Sep; 4(9): e2125544. Published online 2021 Sep 17. doi: 10.1001/jamanetworkopen.2021.25544

PMCID:: PMC8449278

Article

Select item 840423519.

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene

Yongan Tian, Hongen Xu, Danhua Liu, Juanli Zhang, Zengguang Yang, Sen Zhang, Huanfei Liu, Ruijun Li, Yingtao Tian, Beiping Zeng, Tong Li, Qianyu Lin, Haili Wang, Xiaohua Li, Wei Lu, Ying Shi, Yan Zhang, Hui Zhang, Chang Jiang, Ying Xu, Bei Chen, Jun Liu, Wenxue Tang

Mol Genet Genomic Med. 2021 Aug; 9(8): e1734. Published online 2021 Jun 25. doi: 10.1002/mgg3.1734

PMCID:: PMC8404235

Article PDF–1010K

Select item 816507220.

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features

F. Forli, F. Lazzerini, G. Auletta, L. Bruschini, S. Berrettini

Eur Arch Otorhinolaryngol. 2021; 278(7): 2305–2312. Published online 2020 Sep 10. doi: 10.1007/s00405-020-06333-9

PMCID:: PMC8165072

Article PDF–771K

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