U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Nucleotide

Items: 1 to 20 of 27

1.
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer, Marc Bassim
BMC Med Genet. 2020; 21: 1. Published online 2020 Jan 2. doi: 10.1186/s12881-019-0942-4
PMCID:
PMC6941291
AbstractArticlePDF–1.2M
2.
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
BMC Med Genet. 2019; 20: 60. Published online 2019 Apr 5. doi: 10.1186/s12881-019-0790-2
PMCID:
PMC6451310
AbstractArticlePDF–6.6M
3.
Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations
Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu
Ann Transl Med. 2020 Jan; 8(1): 8. doi: 10.21037/atm.2019.11.31
PMCID:
PMC6995733
AbstractArticlePDF–1.1M
4.
Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families
Muhammad Noman, Rafaqat Ishaq, Shazia A. Bukhari, Zubair M. Ahmed, Saima Riazuddin
Genes (Basel) 2019 Dec; 10(12): 1031. Published online 2019 Dec 10. doi: 10.3390/genes10121031
PMCID:
PMC6947215
AbstractArticlePDF–1.6M
5.
Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population
Chen-Chi Wu, Cheng-Yu Tsai, Yi-Hsin Lin, Pey-Yu Chen, Pei-Hsuan Lin, Yen-Fu Cheng, Che-Ming Wu, Yin-Hung Lin, Chee-Yee Lee, Jargalkhuu Erdenechuluun, Tien-Chen Liu, Pei-Lung Chen, Chuan-Jen Hsu
Genes (Basel) 2019 Oct; 10(10): 772. Published online 2019 Oct 1. doi: 10.3390/genes10100772
PMCID:
PMC6826657
AbstractArticlePDF–861K
6.
Report of a Novel Splicing Mutation in the MYO15A Gene in a Patient With Sensorineural Hearing Loss and Spectrum of the MYO15A Mutations
Elinaz Akbariazar, Ali Vahabi, Isa Abdi Rad
Clin Med Insights Case Rep. 2019; 12: 1179547619871907. Published online 2019 Sep 22. doi: 10.1177/1179547619871907
PMCID:
PMC6757496
AbstractArticlePDF–620K
7.
Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing
Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan
Mol Genet Genomic Med. 2019 Aug; 7(8): e808. Published online 2019 Jun 28. doi: 10.1002/mgg3.808
PMCID:
PMC6687625
AbstractArticlePDF–1.3M
8.
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population
Jae Joon Han, Pham Dinh Nguyen, Doo-Yi Oh, Jin Hee Han, Ah-Reum Kim, Min Young Kim, Hye-Rim Park, Lam Huyen Tran, Nguyen Huu Dung, Ja-Won Koo, Jun Ho Lee, Seung Ha Oh, Hoang Anh Vu, Byung Yoon Choi
Sci Rep. 2019; 9: 1604. Published online 2019 Feb 7. doi: 10.1038/s41598-018-38245-4
PMCID:
PMC6367484
AbstractArticlePDF–1.4M
9.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Mark J. Bowser, Elizabeth Hynes, Andrew R. Grant, Rebecca K. Siegert, Andrea M. Oza, Michael A. Gonzalez, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun
J Mol Diagn. 2018 Nov; 20(6): 789–801. doi: 10.1016/j.jmoldx.2018.06.005
PMCID:
PMC6204605
AbstractArticle
10.
Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang
Neural Plast. 2018; 2018: 5898025. Published online 2018 Apr 5. doi: 10.1155/2018/5898025
PMCID:
PMC5907479
AbstractArticlePDF–1.1M
11.
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes
Longxia He, Xiuhong Pang, Penghui Chen, Xiaowen Wang, Tao Yang, Hao Wu
Sci Rep. 2017; 7: 11355. Published online 2017 Sep 12. doi: 10.1038/s41598-017-10099-2
PMCID:
PMC5595904
AbstractArticlePDF–1.0M
12.
Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas
Eur Arch Otorhinolaryngol. 2017; 274(10): 3619–3625. Published online 2017 Aug 18. doi: 10.1007/s00405-017-4699-0
PMCID:
PMC5591807
AbstractArticlePDF–1.4M
13.
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients
Kentaro Mori, Hideaki Moteki, Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami
PLoS One. 2016; 11(9): e0162230. Published online 2016 Sep 14. doi: 10.1371/journal.pone.0162230
PMCID:
PMC5023092
AbstractArticlePDF–226K
14.
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
So Young Kim, Ah Reum Kim, Nayoung K. D. Kim, Chung Lee, Min Young Kim, Eun-Hee Jeon, Woong-Yang Park, Byung Yoon Choi
Medicine (Baltimore) 2016 Apr; 95(14): e3029. Published online 2016 Apr 8. doi: 10.1097/MD.0000000000003029
PMCID:
PMC4998745
AbstractArticlePDF–1.0M
15.
Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing
Mun Young Chang, Ah Reum Kim, Nayoung K.D. Kim, Chung Lee, Kyoung Yeul Lee, Woo-Sung Jeon, Ja-Won Koo, Seung Ha Oh, Woong-Yang Park, Dongsup Kim, Byung Yoon Choi
Mol Cells. 2015 Sep 30; 38(9): 781–788. Published online 2015 Aug 4. doi: 10.14348/molcells.2015.0078
PMCID:
PMC4588721
AbstractArticlePDF–1.4M
16.
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology
Maria Carolina CCosta CMelo Svidnicki, Sueli Matilde Silva-Costa, Priscila Zonzini Ramos, Nathalia Zocal Pereira dos Santos, Fábio Tadeu Arrojo Martins, Arthur Menino Castilho, Edi Lúcia Sartorato
BMC Med Genet. 2015; 16: 85. Published online 2015 Sep 23. doi: 10.1186/s12881-015-0232-8
PMCID:
PMC4581412
AbstractArticlePDF–759K
17.
Targeted Next-Generation Sequencing in Uyghur Families with Non-Syndromic Sensorineural Hearing Loss
Ying Chen, Zhentao Wang, Zhaoyan Wang, Dongye Chen, Yongchuan Chai, Xiuhong Pang, Lianhua Sun, Xiaowen Wang, Tao Yang, Hao Wu
PLoS One. 2015; 10(5): e0127879. Published online 2015 May 26. doi: 10.1371/journal.pone.0127879
PMCID:
PMC4444116
AbstractArticlePDF–844K
18.
Clinical Application of a Custom AmpliSeq Library and Ion Torrent PGM Sequencing to Comprehensive Mutation Screening for Deafness Genes
Shin-Ya Nishio, Yoshiharu Hayashi, Manabu Watanabe, Shin-Ichi Usami
Genet Test Mol Biomarkers. 2015 Apr 1; 19(4): 209–217. doi: 10.1089/gtmb.2014.0252
PMCID:
PMC4394162
AbstractArticlePDF–518K
19.
Targeted next generation sequencing for molecular diagnosis of Usher syndrome
María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán
Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7
PMCID:
PMC4245769
AbstractArticlePDF–605K
20.
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication
Joo Hyun Park, Nayoung K D Kim, Ah Reum Kim, Jihye Rhee, Seung Ha Oh, Ja-Won Koo, Jae-Yong Nam, Woong-Yang Park, Byung Yoon Choi
Orphanet J Rare Dis. 2014; 9: 167. Published online 2014 Nov 6. doi: 10.1186/s13023-014-0167-8
PMCID:
PMC4243193
AbstractArticlePDF–2.6M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center