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Select item 101285591.

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 79193432.

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations

Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu

Genes (Basel) 2021 Feb; 12(2): 274. Published online 2021 Feb 15. doi: 10.3390/genes12020274

PMCID:: PMC7919343

Article PDF–6.8M

Select item 53408533.

Advances in genetic hearing loss: CIB2 gene

Agnieszka Jacoszek, Agnieszka Pollak, Rafał Płoski, Monika Ołdak

Eur Arch Otorhinolaryngol. 2017; 274(4): 1791–1795. Published online 2016 Oct 22. doi: 10.1007/s00405-016-4330-9

PMCID:: PMC5340853

Article PDF–473K

Select item 45615504.

Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss

Gowri Nayak, Lukas Varga, Claire Trincot, Mohsin Shahzad, Penelope L. Friedman, Iwar Klimes, John H. Greinwald, Jr., S Amer Riazuddin, Ivica Masindova, Milan Profant, Shaheen N. Khan, Thomas B. Friedman, Zubair M. Ahmed, Daniela Gasperikova, Sheikh Riazuddin, Saima Riazuddin

Hum Genet. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Hum Genet. 2015 Apr; 134(4): 423–437. Published online 2015 Feb 10. doi: 10.1007/s00439-015-1532-y

PMCID:: PMC4561550

Article PDF–1.1M

Select item 31231645.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Isabelle Audo, Kinga Bujakowska, Saddek Mohand-Saïd, Sophie Tronche, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz

Mol Vis. 2011; 17: 1598–1606. Published online 2011 Jun 15.

PMCID:: PMC3123164

Article PDF–708K

Select item 108046186.

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population

Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

BMC Med Genomics. 2024; 17: 32. Published online 2024 Jan 23. doi: 10.1186/s12920-023-01786-3

PMCID:: PMC10804618

Article PDF–1.1M

Select item 107631537.

Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss

Kaifeng Zheng, Sheng Lin, Jian Gao, Shiguo Chen, Jindi Su, Zhiqiang Liu, Shan Duan

BMC Med Genomics. 2024; 17: 4. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01777-4

PMCID:: PMC10763153

Article PDF–2.6M

Select item 101868098.

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families

Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili

Hum Genomics. 2023; 17: 42. Published online 2023 May 15. doi: 10.1186/s40246-023-00489-1

PMCID:: PMC10186809

Article PDF–2.0M

Select item 92028419.

Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment

Mohib Ullah Kakar, Muhammad Akram, Muhammad Zubair Mehboob, Muhammad Younus, Muhammad Bilal, Ahmed Waqas, Amina Nazir, Muhammad Shafi, Muhammad Umair, Sajjad Ahmad, Misbahuddin M. Rafeeq

PLoS One. 2022; 17(6): e0268078. Published online 2022 Jun 16. doi: 10.1371/journal.pone.0268078

PMCID:: PMC9202841

Article PDF–1.4M

Select item 903498110.

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

Article PDF–487K

Select item 900709411.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159

PMCID:: PMC9007094

Article PDF–1.3M

Select item 839134212.

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

Article PDF–1.2M

Select item 782495113.

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss

Ekaterina A. Maslova, Konstantin E. Orishchenko, Olga L. Posukh

Biomolecules. 2021 Jan; 11(1): 61. Published online 2021 Jan 5. doi: 10.3390/biom11010061

PMCID:: PMC7824951

Article PDF–2.2M

Select item 677745414.

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry

Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C. Francioli, Regie Lyn P. Santos-Cortez, Isabelle Schrauwen, Suzanne M. Leal

Eur J Hum Genet. 2019 Sep; 27(9): 1456–1465. Published online 2019 May 3. doi: 10.1038/s41431-019-0417-2

PMCID:: PMC6777454

Article PDF–1.1M

Select item 502157315.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos-Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman

Hum Mutat. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Hum Mutat. 2016 Oct; 37(10): 991–1003. Published online 2016 Aug 21. doi: 10.1002/humu.23042

PMCID:: PMC5021573

Article PDF–1.7M

Select item 453410516.

Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population

So Young Kim, Ah Reum Kim, Nayoung K D Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong-Yang Park, Byung Yoon Choi

J Transl Med. 2015; 13: 263. Published online 2015 Aug 13. doi: 10.1186/s12967-015-0624-8

PMCID:: PMC4534105

Article PDF–3.3M

Select item 449926617.

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward

Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam

Pan Afr Med J. 2015; 20: 383. Published online 2015 Apr 17. doi: 10.11604/pamj.2015.20.383.5230

PMCID:: PMC4499266

Article PDF–553K

Select item 375712318.

Screening for MYO15A Gene Mutations in Autosomal Recessive Nonsyndromic, GJB2 Negative Iranian Deaf Population

Zohreh Fattahi, A. Eliot Shearer, Mojgan Babanejad, Niloofar Bazazzadegan, Seyed Navid Almadani, Nooshin Nikzat, Khadijeh Jalalvand, Sanaz Arzhangi, Fatemehsadat Esteghamat, Rezvan Abtahi, Batool Azadeh, Richard J.H. Smith, Kimia Kahrizi, Hossein Najmabadi

Am J Med Genet A. Author manuscript; available in PMC 2013 Aug 29.

Published in final edited form as: Am J Med Genet A. 2012 Aug; 0(8): 1857–1864. Published online 2012 Jun 26. doi: 10.1002/ajmg.a.34411

PMCID:: PMC3757123

Article PDF–1.7M

Select item 368382719.

Autosomal recessive nonsyndromic deafness genes: a review

Duygu Duman, Mustafa Tekin

Front Biosci. Author manuscript; available in PMC 2013 Jun 17.

Published in final edited form as: Front Biosci. 2012 Jun 1; 17: 2213–2236. Published online 2012 Jun 1. doi: 10.2741/4046

PMCID:: PMC3683827

Article PDF–379K

Select item 301437120.

Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

Zubair M. Ahmed, Rizwan Yousaf, Byung Cheon Lee, Shaheen N. Khan, Sue Lee, Kwanghyuk Lee, Tayyab Husnain, Atteeq Ur Rehman, Sarah Bonneux, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal, Vadim N. Gladyshev, Inna A. Belyantseva, Guy Van Camp, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin

Am J Hum Genet. 2011 Jan 7; 88(1): 19–29. doi: 10.1016/j.ajhg.2010.11.010

PMCID:: PMC3014371

Article PDF–1.5M

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