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Items: 1 to 20 of 23

1.
Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next‐generation sequencing in a Chinese family with nonsyndromic hearing loss
Yanbao Xiang, Chenyang Xu, Yunzhi Xu, Lili Zhou, Shaohua Tang, Xueqin Xu
J Clin Lab Anal. 2022 Nov; 36(11): e24708. Published online 2022 Sep 26. doi: 10.1002/jcla.24708
PMCID:
PMC9701874
ArticlePubReaderPDF–2.0MCite
2.
Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population
Anwar Madlool Al-janabi, Habeeb Shuhaib Ahmmed, Salih Mahdi Al-Khafaji
J Med Life. 2021 Nov-Dec; 14(6): 841–846. doi: 10.25122/jml-2021-0152
PMCID:
PMC8811675
ArticlePubReaderPDF–613KCite
3.
Usher Syndrome and Non-syndromic Deafness: Functions of Different Whirlin Isoforms in the Cochlea, Vestibular Organs, and Retina
Pranav Dinesh Mathur, Jun Yang
Hear Res. Author manuscript; available in PMC 2020 Apr 1.
Published in final edited form as: Hear Res. 2019 Apr; 375: 14–24. Published online 2019 Feb 22. doi: 10.1016/j.heares.2019.02.007
PMCID:
PMC6474673
ArticlePubReaderPDF–923KCite
4.
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
K. Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams
Hereditas. 2017; 154: 16. Published online 2017 Dec 19. doi: 10.1186/s41065-017-0052-2
PMCID:
PMC5735936
ArticlePubReaderPDF–1.1MCite
5.
Atypical patterns of segregation of familial enlargement of the vestibular aqueduct
Julie A. Muskett, Parna Chattaraj, John F. Heneghan, Fabian R. Reimold, Boris E. Shmukler, Carmen C. Brewer, Kelly A. King, Christopher K. Zalewski, Thomas H. Shawker, John A. Butman, Margaret A. Kenna, Wade W. Chien, Seth L. Alper, Andrew J. Griffith
Laryngoscope. Author manuscript; available in PMC 2017 Jul 1.
Published in final edited form as: Laryngoscope. 2016 Jul; 126(7): E240–E247. Published online 2015 Oct 20. doi: 10.1002/lary.25737
PMCID:
PMC4838554
ArticlePubReaderPDF–731KCite
6.
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Hae-Mi Woo, Hong-Joon Park, Jeong-In Baek, Mi-Hyun Park, Un-Kyung Kim, Borum Sagong, Soo Kyung Koo
BMC Med Genet. 2013; 14: 72. Published online 2013 Jul 17. doi: 10.1186/1471-2350-14-72
PMCID:
PMC3727941
ArticlePubReaderPDF–1.3MCite
7.
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome
Akira Ganaha, Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, Tetsuya Tono, Shin-ichi Usami, Mikio Suzuki
BMC Med Genet. 2013; 14: 56. Published online 2013 May 24. doi: 10.1186/1471-2350-14-56
PMCID:
PMC3664218
ArticlePubReaderPDF–1.1MCite
8.
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome
Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee
BMC Med Genomics. 2023; 16: 79. Published online 2023 Apr 11. doi: 10.1186/s12920-023-01506-x
PMCID:
PMC10088283
ArticlePubReaderPDF–4.1MCite
9.
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
ArticlePubReaderPDF–639KCite
10.
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
ArticlePubReaderPDF–1.2MCite
11.
Frequency of GJB2 mutations, GJB6‐D13S1830 and GJB6‐D13S1854 deletions among patients with non‐syndromic hearing loss from the central region of Iran
Hossein Naddafnia, Zahra Noormohammadi, Shiva Irani, Iman Salahshoorifar
Mol Genet Genomic Med. 2019 Jul; 7(7): e00780. Published online 2019 Jun 4. doi: 10.1002/mgg3.780
PMCID:
PMC6625131
ArticlePubReaderPDF–734KCite
12.
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse
Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears, Saima Riazuddin
PLoS Genet. 2018 Mar; 14(3): e1007297. Published online 2018 Mar 28. doi: 10.1371/journal.pgen.1007297
PMCID:
PMC5891075
ArticlePubReaderPDF–9.4MCite
13.
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss
Jiongjiong Hu, Fei Liu, Wenjun Xia, Lili Hao, Jun Lan, Zhenghua Zhu, Jing Ye, Duan Ma, Zhaoxin Ma
J Transl Med. 2016; 14: 29. Published online 2016 Jan 28. doi: 10.1186/s12967-016-0780-5
PMCID:
PMC4731951
ArticlePubReaderPDF–1.5MCite
14.
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
Tahir Atik, Huseyin Onay, Ayca Aykut, Guney Bademci, Tayfun Kirazli, Mustafa Tekin, Ferda Ozkinay
PLoS One. 2015; 10(11): e0142154. Published online 2015 Nov 11. doi: 10.1371/journal.pone.0142154
PMCID:
PMC4641619
ArticlePubReaderPDF–446KCite
15.
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
ArticlePubReaderPDF–710KCite
16.
Genetic Analysis of Genes Related to Tight Junction Function in the Korean Population with Non-Syndromic Hearing Loss
Min-A Kim, Ye-Ri Kim, Borum Sagong, Hyun-Ju Cho, Jae Woong Bae, Jeongho Kim, Jinwook Lee, Hong-Joon Park, Jae Young Choi, Kyu-Yup Lee, Un-Kyung Kim
PLoS One. 2014; 9(4): e95646. Published online 2014 Apr 21. doi: 10.1371/journal.pone.0095646
PMCID:
PMC3994078
ArticlePubReaderPDF–2.3MCite
17.
Two Iranian Families with a Novel Mutation in GJB2 Causing Autosomal Dominant Nonsyndromic Hearing Loss
Niloofar Bazazzadegan, Abraham M. Sheffield, Masoomeh Sobhani, Kimia Kahrizi, Nicole C Meyer, Guy Van Camp, Nele Hilgert, Seyedeh Sedigheh Abedini, Farkhondeh Habibi, Ahmad Daneshi, Carla Nishimura, Matthew R. Avenarius, Mohammad Farhadi, Richard J.H. Smith, Hossein Najmabadi
Am J Med Genet A. Author manuscript; available in PMC 2012 May 1.
Published in final edited form as: Am J Med Genet A. 2011 May; 155(5): 1202–1211. Published online 2011 Apr 11. doi: 10.1002/ajmg.a.33209
PMCID:
PMC3080436
ArticlePubReaderPDF–1.5MCite
18.
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Guntram Borck, Atteeq Ur Rehman, Kwanghyuk Lee, Hans-Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan S. Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer A. Webster, Dietrich A. Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J.H. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch
Am J Hum Genet. 2011 Feb 11; 88(2): 127–137. doi: 10.1016/j.ajhg.2010.12.011
PMCID:
PMC3035704
ArticlePubReaderPDF–1.0MCite
19.
High Frequency of the p.R34X Mutation in the TMC1 Gene Associated with Nonsyndromic Hearing Loss Is Due to Founder Effects
Mariem Ben Saïd, Mounira Hmani-Aifa, Imen Amar, Shahid Mahmood Baig, Mirna Mustapha, Sedigheh Delmaghani, Abdelaziz Tlili, Abdelmonem Ghorbel, Hammadi Ayadi, Guy Van Camp, Richard J.H. Smith, Mustafa Tekin, Saber Masmoudi
Genet Test Mol Biomarkers. 2010 Jun; 14(3): 307–311. doi: 10.1089/gtmb.2009.0174
PMCID:
PMC2936956
ArticlePubReaderPDF–105KCite
20.
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1 – 14q24.3 in large consanguineous kindred from Pakistan
Muhammad Ansar, Mohammad Amin ud Din, Muhammad Arshad, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Wasim Ahmad, Suzanne M Leal
Eur J Hum Genet. Author manuscript; available in PMC 2010 Aug 7.
Published in final edited form as: Eur J Hum Genet. 2003 Jan; 11(1): 77–80. doi: 10.1038/sj.ejhg.5200905
PMCID:
PMC2917542
ArticlePubReaderPDF–635KCite

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