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Items: 1 to 20 of 29

1.
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene
Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea, Delia Ștefan, Mihaela Drodar, Călin Lazăr, on behalf of the HINT Study, on behalf of the FUSE Study, Mihai Ioana, Radu Popp
Genes (Basel) 2023 Jan; 14(1): 69. Published online 2022 Dec 26. doi: 10.3390/genes14010069
PMCID:
PMC9858611
AbstractArticlePDF–639K
2.
Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A
Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai
BMC Med Genomics. 2022; 15: 241. Published online 2022 Nov 18. doi: 10.1186/s12920-022-01368-9
PMCID:
PMC9673454
AbstractArticlePDF–2.5M
3.
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss
Shin-ichi Usami, Yuichi Isaka, Maiko Miyagawa, Shin-ya Nishio
Hum Genet. 2022; 141(3-4): 903–914. Published online 2022 Jan 12. doi: 10.1007/s00439-022-02431-2
PMCID:
PMC9034991
AbstractArticlePDF–998K
4.
Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
Shin-ya Nishio, Shin-ichi Usami
Hum Genet. 2022; 141(3-4): 929–937. Published online 2021 Sep 14. doi: 10.1007/s00439-021-02364-2
PMCID:
PMC9034981
AbstractArticlePDF–487K
5.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277
PMCID:
PMC8391342
AbstractArticlePDF–1.2M
6.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550
PMCID:
PMC7767568
AbstractArticlePDF–1.9M
7.
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss
Khushnooda Ramzan, Nouf S. Al-Numair, Sarah Al-Ageel, Lina Elbaik, Nadia Sakati, Selwa A. F. Al-Hazzaa, Mohammed Al-Owain, Faiqa Imtiaz
Genes (Basel) 2020 Dec; 11(12): 1474. Published online 2020 Dec 9. doi: 10.3390/genes11121474
PMCID:
PMC7764456
AbstractArticlePDF–2.7M
8.
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice
Gema García-García, Alba Berzal-Serrano, Piedad García-Díaz, Rebeca Villanova-Aparisi, Sara Juárez-Rodríguez, Carlos de Paula-Vernetta, Laura Cavallé-Garrido, Teresa Jaijo, Miguel Armengot-Carceller, José M Millán, Elena Aller
Genes (Basel) 2020 Dec; 11(12): 1467. Published online 2020 Dec 7. doi: 10.3390/genes11121467
PMCID:
PMC7762334
AbstractArticlePDF–3.1M
9.
Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next‐generation sequencing
Fatemeh Bitarafan, Seyed Yousef Seyedena, Mahdi Mahmoudi, Masoud Garshasbi
J Clin Lab Anal. 2020 Dec; 34(12): e23544. Published online 2020 Aug 30. doi: 10.1002/jcla.23544
PMCID:
PMC7755797
AbstractArticlePDF–1.0M
10.
Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss
Kevin T Booth, Amama Ghaffar, Muhammad Rashid, Luke T Hovey, Mureed Hussain, Kathy Frees, Erika M Renkes, Carla J Nishimura, Mohsin Shahzad, Richard J Smith, Zubair Ahmed, Hela Azaiez, Saima Riazuddin
Hum Genet. Author manuscript; available in PMC 2020 Dec 1.
Published in final edited form as: Hum Genet. 2020 Dec; 139(12): 1565–1574. Published online 2020 Jun 19. doi: 10.1007/s00439-020-02197-5
PMCID:
PMC7572817
AbstractArticlePDF–1018K
11.
Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear
Peipei Li, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, Jiangang Gao
Neural Plast. 2018; 2018: 4372913. Published online 2018 Jul 5. doi: 10.1155/2018/4372913
PMCID:
PMC6079384
AbstractArticlePDF–3.7M
12.
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans
Bong Jik Kim, Ah Reum Kim, Chung Lee, So Young Kim, Nayoung K. D. Kim, Mun Young Chang, Jihye Rhee, Mi-Hyun Park, Soo Kyung Koo, Min Young Kim, Jin Hee Han, Seung-ha Oh, Woong-Yang Park, Byung Yoon Choi
PLoS One. 2016; 11(10): e0165680. Published online 2016 Oct 28. doi: 10.1371/journal.pone.0165680
PMCID:
PMC5085094
AbstractArticlePDF–2.4M
13.
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches
Yu Lu, Xueya Zhou, Zhanguo Jin, Jing Cheng, Weidong Shen, Fei Ji, Liyang Liu, Xuegong Zhang, Michael Zhang, Ye Cao, Dongyi Han, KwongWai Choy, Huijun Yuan
J Hum Genet. 2014 Nov; 59(11): 599–607. Published online 2014 Sep 18. doi: 10.1038/jhg.2014.78
PMCID:
PMC4521291
AbstractArticlePDF–1.6M
14.
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga
Orphanet J Rare Dis. 2015; 10: 60. Published online 2015 May 13. doi: 10.1186/s13023-015-0276-z
PMCID:
PMC4451718
AbstractArticlePDF–879K
15.
Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population
Marjan Mojtabavi Naeini, Hamzeh Mesrian Tanha, Morteza Hashemzadeh Chaleshtori, Sadeq Vallian
Genet Test Mol Biomarkers. 2014 Dec 1; 18(12): 820–825. doi: 10.1089/gtmb.2014.0178
PMCID:
PMC4250946
AbstractArticlePDF–230K
16.
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss
Qinjun Wei, Hongmei Zhu, Xuli Qian, Zhibin Chen, Jun Yao, Yajie Lu, Xin Cao, Guangqian Xing
J Transl Med. 2014; 12: 311. Published online 2014 Nov 12. doi: 10.1186/s12967-014-0311-1
PMCID:
PMC4234825
AbstractArticlePDF–1.4M
17.
Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, Sean S. Ephraim, José Gurrola, II, Allen Simpson, E. Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C. Giuffre, Scott Happe, Michael S. Hildebrand, Hela Azaiez, Yildirim A. Bayazit, Mehmet Emin Erdal, Jose A. Lopez-Escamez, Irene Gazquez, Marta L. Tamayo, Nancy Y. Gelvez, Greizy Lopez Leal, Chaim Jalas, Josef Ekstein, Tao Yang, Shin-ichi Usami, Kimia Kahrizi, Niloofar Bazazzadegan, Hossein Najmabadi, Todd E. Scheetz, Terry A. Braun, Thomas L. Casavant, Emily M. LeProust, Richard J.H. Smith
Am J Hum Genet. 2014 Oct 2; 95(4): 445–453. doi: 10.1016/j.ajhg.2014.09.001
PMCID:
PMC4185121
AbstractArticlePDF–710K
18.
Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss
Oscar Diaz-Horta, Duygu Duman, Joseph Foster, II, Aslı Sırmacı, Michael Gonzalez, Nejat Mahdieh, Nikou Fotouhi, Mortaza Bonyadi, Filiz Başak Cengiz, Ibis Menendez, Rick H. Ulloa, Yvonne J. K. Edwards, Stephan Züchner, Susan Blanton, Mustafa Tekin
PLoS One. 2012; 7(11): e50628. Published online 2012 Nov 30. doi: 10.1371/journal.pone.0050628
Correction in:
PLoS One. 2013; 8(5): 10.1371/annotation/0668e8de-97ae-4a04-ac61-8afa9c79bbdd.
PMCID:
PMC3511533
AbstractArticlePDF–275K
19.
Mutations in CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48
Saima Riazuddin, Inna A. Belyantseva, Arnaud Giese, Kwanghyuk Lee, Artur A. Indzhykulian, Sri Pratima Nandamuri, Rizwan Yousaf, Ghanshyam P. Sinha, Sue Lee, David Terrell, Rashmi S. Hegde, Rana A. Ali, Saima Anwar, Paula B. Andrade-Elizondo, Asli Sirmaci, Leslie V. Parise, Sulman Basit, Abdul Wali, Muhammad Ayub, Muhammad Ansar, Wasim Ahmad, Shaheen N. Khan, Javed Akram, Mustafa Tekin, Sheikh Riazuddin, Tiffany Cook, Elke K. Buschbeck, Gregory I. Frolenkov, Suzanne M. Leal, Thomas B. Friedman, Zubair M. Ahmed
Nat Genet. Author manuscript; available in PMC 2013 May 1.
Published in final edited form as: Nat Genet. 2012 Nov; 44(11): 1265–1271. Published online 2012 Sep 30. doi: 10.1038/ng.2426
PMCID:
PMC3501259
AbstractArticlePDF–1.9M
20.
An ENU-Induced Mutation of Cdh23 Causes Congenital Hearing Loss, but No Vestibular Dysfunction, in Mice
Shehnaaz S.M. Manji, Kerry A. Miller, Louise H. Williams, Lotte Andreasen, Maria Siboe, Elizabeth Rose, Melanie Bahlo, Michael Kuiper, Hans-Henrik M. Dahl
Am J Pathol. 2011 Aug; 179(2): 903–914. doi: 10.1016/j.ajpath.2011.04.002
PMCID:
PMC3157152
AbstractArticlePDF–4.7M

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