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Items: 1 to 20 of 135

1.
高分辨率CT内耳关键性结构定量测量在先天性极重度感音神经性聋听力评估中的价值
王 林, 夏 贵华, 陈 旭东
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Oct 5; 35(10): 880–885. Chinese. doi: 10.13201/j.issn.2096-7993.2021.10.004
PMCID:
PMC10127707
ArticlePubReaderPDF–5.8MCite
2.
Auditory Recognition of Digit-in-Noise under Unaided and Aided Conditions in Moderate and Severe Sensorineural Hearing Loss
Mina Aghasoleimani, Hamid Jalilvand, Mohammad Ebrahim Mahdavi, Roghayeh Ahmadi
J Audiol Otol. 2021 Apr; 25(2): 72–79. Published online 2020 Dec 18. doi: 10.7874/jao.2020.00094
PMCID:
PMC8062247
ArticlePubReaderPDF–488KCite
3.
Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans
Sang-Yeon Lee, Jin Hee Han, Bong Jik Kim, Seung Ha Oh, Seungmin Lee, Doo-Yi Oh, Byung Yoon Choi
Int J Mol Sci. 2019 Sep; 20(17): 4174. Published online 2019 Aug 26. doi: 10.3390/ijms20174174
PMCID:
PMC6747409
ArticlePubReaderPDF–2.2MCite
4.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Hamidreza Mahmoudi, Razieh Karamzadeh, Ariana Kariminejad, Jianhe Huang, Leping Li, Thomas F. Jannace, Paolo Fortina, Sirous Zeinali, Thomas W. White, Jouni Uitto
Hum Mutat. Author manuscript; available in PMC 2020 Feb 1.
Published in final edited form as: Hum Mutat. 2019 Feb; 40(2): 217–229. Published online 2018 Dec 1. doi: 10.1002/humu.23686
PMCID:
PMC6481180
ArticlePubReaderPDF–2.1MCite
5.
Expanding unilateral cochlear implantation criteria for adults with bilateral acquired severe sensorineural hearing loss
Wendy J. Huinck, Emmanuel A. M. Mylanus, Ad F. M. Snik
Eur Arch Otorhinolaryngol. 2019; 276(5): 1313–1320. Published online 2019 Feb 27. doi: 10.1007/s00405-019-05358-z
PMCID:
PMC6458976
ArticlePubReaderPDF–766KCite
6.
Early Speech Perception Test Outcome in Children with Severe Sensorineural Hearing Loss with Unilateral Cochlear Implants Alone versus Bimodal Stimulation
Ajith Nilakantan, Poonam Raj, Sachin Saini, Ruchika Mittal
Indian J Otolaryngol Head Neck Surg. 2018 Sep; 70(3): 398–404. Published online 2018 May 14. doi: 10.1007/s12070-018-1398-0
PMCID:
PMC6127063
ArticlePubReaderPDF–6.0MCite
7.
Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak, Rafał Płoski
BMC Med Genet. 2017; 18: 142. Published online 2017 Dec 2. doi: 10.1186/s12881-017-0499-z
PMCID:
PMC5712175
ArticlePubReaderPDF–731KCite
8.
Altered Brain Functional Activity in Infants with Congenital Bilateral Severe Sensorineural Hearing Loss: A Resting-State Functional MRI Study under Sedation
Shuang Xia, TianBin Song, Jing Che, Qiang Li, Chao Chai, Meizhu Zheng, Wen Shen
Neural Plast. 2017; 2017: 8986362. Published online 2017 Feb 1. doi: 10.1155/2017/8986362
PMCID:
PMC5309418
ArticlePubReaderPDF–1.1MCite
9.
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
ArticlePubReaderPDF–763KCite
10.
下颌骨颜面发育不全伴小头畸形1例及文献复习
李 晓雨, 洪 梦迪, 戴 朴, 袁 永一
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jan 3; 36(1): 36–40. Chinese. doi: 10.13201/j.issn.2096-7993.2022.01.008
PMCID:
PMC10128212
ArticlePubReaderPDF–4.4MCite
11.
Clinical features and genetic analysis of Dandy-Walker syndrome
Yanmei Sun, Tao Wang, Ning Zhang, Pingping Zhang, Yali Li
BMC Pregnancy Childbirth. 2023; 23: 40. Published online 2023 Jan 18. doi: 10.1186/s12884-023-05367-1
PMCID:
PMC9847126
ArticlePubReaderPDF–1.2MCite
12.
Interaction between audiology and genetics in the study of a family: the complexity of molecular diagnosis and genetic counseling
Flavia Maria Rodrigues Hoffmann, Patrícia Fernandes Rodrigues, Teresa Maria Momensohn dos Santos, Edi Lucia Sartorato, Andréa Trevas Maciel-Guerra, Carla Gentile Matas, Vanessa Cristine Sousa de Moraes
Braz J Otorhinolaryngol. 2008 Sep-Oct; 74(5): 698–702. Published online 2015 Oct 17. doi: 10.1016/S1808-8694(15)31379-3
PMCID:
PMC9445928
ArticlePubReaderPDF–191KCite
13.
A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly
Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu
J Clin Lab Anal. 2022 May; 36(5): e24440. Published online 2022 Apr 18. doi: 10.1002/jcla.24440
PMCID:
PMC9102503
ArticlePubReaderPDF–2.0MCite
14.
MANF supports the inner hair cell synapse and the outer hair cell stereocilia bundle in the cochlea
Kuu Ikäheimo, Anni Herranen, Vilma Iivanainen, Tuuli Lankinen, Antti A Aarnisalo, Ville Sivonen, Kashyap A Patel, Korcan Demir, Mart Saarma, Maria Lindahl, Ulla Pirvola
Life Sci Alliance. 2022 Feb; 5(2): e202101068. Published online 2021 Nov 23. doi: 10.26508/lsa.202101068
PMCID:
PMC8616558
ArticlePubReaderPDF–5.5MCite
15.
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali
Mol Genet Genomic Med. 2021 Mar; 9(3): e1620. Published online 2021 Feb 11. doi: 10.1002/mgg3.1620
PMCID:
PMC8104176
ArticlePubReaderPDF–541KCite
16.
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation
Andrea Hanson-Kahn, Bing Li, Daniel H. Cohn, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Louanne Hudgins
Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 3.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2887–2891. Published online 2018 Nov 18. doi: 10.1002/ajmg.a.40647
PMCID:
PMC7608529
ArticlePubReaderPDF–550KCite
17.
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family
Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu
BMC Med Genet. 2019; 20: 43. Published online 2019 Mar 20. doi: 10.1186/s12881-019-0781-3
PMCID:
PMC6425609
ArticlePubReaderPDF–2.2MCite
18.
Genetic causes of moderate to severe hearing loss point to modifiers
Sadaf Naz, Ayesha Imtiaz, Ghulam Mujtaba, Azra Maqsood, Rasheeda Bashir, Ihtisham Bukhari, Muhammad R. Khan, Memoona Ramzan, Amara Fatima, Atteeq U. Rehman, Muddassar Iqbal, Taimur Chaudhry, Merete Lund, Carmen C. Brewer, Robert J. Morell, Thomas B. Friedman
Clin Genet. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Clin Genet. 2017 Apr; 91(4): 589–598. Published online 2016 Oct 6. doi: 10.1111/cge.12856
PMCID:
PMC5365349
ArticlePubReaderPDF–2.2MCite
19.
Recessive mutations of TMC1 associated with moderate to severe hearing loss
Ayesha Imtiaz, Azra Maqsood, Atteeq U. Rehman, Robert J. Morell, Jeffrey R. Holt, Thomas B. Friedman, Sadaf Naz
Neurogenetics. Author manuscript; available in PMC 2017 Apr 1.
Published in final edited form as: Neurogenetics. 2016 Apr; 17(2): 115–123. Published online 2016 Feb 16. doi: 10.1007/s10048-016-0477-1
PMCID:
PMC4795972
ArticlePubReaderPDF–547KCite
20.
X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4
Gregory J. Anger, Susan Crocker, Kyle McKenzie, Kerry K. Brown, Cynthia C. Morton, Karen Harrison, Jennifer J. MacKenzie
Am J Audiol. Author manuscript; available in PMC 2015 Nov 14.
Published in final edited form as: Am J Audiol. 2014 Mar; 23(1): 1–6. doi: 10.1044/1059-0889(2013/13-0018)
PMCID:
PMC4644427
ArticlePubReaderPDF–1.1MCite

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