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Select item 28582241.

Strain background effects and genetic modifiers of hearing in mice

Kenneth R. Johnson, Qing Yin Zheng, Konrad Noben-Trauth

Brain Res. Author manuscript; available in PMC 2010 Apr 21.

Published in final edited form as: Brain Res. 2006 May 26; 1091(1): 79–88. Published online 2006 Mar 31. doi: 10.1016/j.brainres.2006.02.021

PMCID:: PMC2858224

Article PDF–842K

Select item 101386592.

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

Margit Pál, Dóra Nagy, Alexandra Neller, Katalin Farkas, Dóra Leprán-Török, Nikoletta Nagy, Dalma Füstös, Roland Nagy, Adrienne Németh, Judit Szilvássy, László Rovó, József Géza Kiss, Márta Széll

Int J Mol Sci. 2023 Apr; 24(8): 7401. Published online 2023 Apr 17. doi: 10.3390/ijms24087401

PMCID:: PMC10138659

Article PDF–3.4M

Select item 98586113.

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

Article PDF–639K

Select item 92457064.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Guney Bademci, María Lachgar-Ruiz, Mangesh Deokar, Mohammad Faraz Zafeer, Clemer Abad, Muzeyyen Yildirim Baylan, Neil J. Ingham, Jing Chen, Claire J. Sineni, Nirmal Vadgama, Ioannis Karakikes, Shengru Guo, Duygu Duman, Nitu Singh, Gaurav Harlalka, Shirish P. Jain, Barry A. Chioza, Katherina Walz, Karen P. Steel, Jamal Nasir, Mustafa Tekin

Proc Natl Acad Sci U S A. 2022 Jun 28; 119(26): e2204084119. Published online 2022 Jun 21. doi: 10.1073/pnas.2204084119

PMCID:: PMC9245706

Article PDF–3.5M

Select item 90349815.

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 86051506.

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran

Ehsan Abbaspour Rodbaneh, Mohammad Panahi, Bahareh Rahimi, Haleh Mokabber, Reza Farajollahi, Behzad Davarnia

J Clin Lab Anal. 2021 Nov; 35(11): e24024. Published online 2021 Sep 28. doi: 10.1002/jcla.24024

PMCID:: PMC8605150

Article PDF–530K

Select item 85448677.

Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim

PLoS One. 2021; 16(10): e0259083. Published online 2021 Oct 25. doi: 10.1371/journal.pone.0259083

PMCID:: PMC8544867

Article PDF–1.2M

Select item 85216028.

Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss

Marjo K. Hytönen, Julia E. Niskanen, Meharji Arumilli, Casey A. Brookhart-Knox, Jonas Donner, Hannes Lohi

Hum Genet. 2021; 140(11): 1611–1618. Published online 2021 May 13. doi: 10.1007/s00439-021-02286-z

PMCID:: PMC8521602

Article PDF–1.1M

Select item 83913429.

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 807715510.

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan

Mol Genet Genomic Med. 2021 Feb; 9(2): e1574. Published online 2021 Jan 14. doi: 10.1002/mgg3.1574

PMCID:: PMC8077155

Article PDF–877K

Select item 798774711.

Identification of Homozygous Mutations for Hearing Loss

Mehdi Dianatpour, Emily Smith, Seyed Basir Hashemi, Mohammad A. Farazifard, Navid Nezafat, Vahid Razban, Arya Mani

Gene. Author manuscript; available in PMC 2022 Apr 30.

Published in final edited form as: Gene. 2021 Apr 30; 778: 145464. Published online 2021 Jan 29. doi: 10.1016/j.gene.2021.145464

PMCID:: PMC7987747

Article PDF–1.2M

Select item 782495112.

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 776233413.

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

Article PDF–3.1M

Select item 723563014.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P. Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J. Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong Wai Choy, Yen-Fu Cheng, Karen B. Avraham, Xinhua Hu, Gema Garrido, Miguel A. Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E. Hemphill, Andrew R. Grant, Rebecca K. Siegert, Marina T. DiStefano, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun

Genet Med. Author manuscript; available in PMC 2020 May 19.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2442–2452. Published online 2019 Jun 4. doi: 10.1038/s41436-019-0535-9

PMCID:: PMC7235630

Article PDF–141K

Select item 692257115.

Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family

Xinqiang Lan, Shiyu Sun, Xin Lan, Linyuan Niu, Chunxiao Zhang, Xiaoli Chen, Ningning Xia

Medicine (Baltimore) 2019 Dec; 98(50): e18253. Published online 2019 Dec 16. doi: 10.1097/MD.0000000000018253

PMCID:: PMC6922571

Article PDF–763K

Select item 675079316.

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China

Ying Lin, Feng Yu, Yuelong Jiao, Feng Zhou

J Int Adv Otol. 2019 Aug; 15(2): 247–252. Published online 2019 Jul 24. doi: 10.5152/iao.2019.6512

PMCID:: PMC6750793

Article PDF–2.4M

Select item 662513117.

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

Article PDF–734K

Select item 637174418.

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

Akemi J. Tanaka, Kanji Okumoto, Shigehiko Tamura, Yuichi Abe, Yoel Hirsch, Liyong Deng, Joseph Ekstein, Wendy K. Chung, Yukio Fujiki

Cold Spring Harb Mol Case Stud. 2019 Feb; 5(1): a003483. doi: 10.1101/mcs.a003483

PMCID:: PMC6371744

Article PDF–12M

Select item 591675419.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness

Meirav Sokolov, Zippora Brownstein, Moshe Frydman, Karen B. Avraham

J Basic Clin Physiol Pharmacol. Author manuscript; available in PMC 2018 Apr 25.

Published in final edited form as: J Basic Clin Physiol Pharmacol. 2014 Sep; 25(3): 289–292. doi: 10.1515/jbcpp-2014-0053

PMCID:: PMC5916754

Article PDF–173K

Select item 587384420.

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

Rizwan Yousaf, Zubair M. Ahmed, Arnaud P.J. Giese, Robert J. Morell, Ayala Lagziel, Alain Dabdoub, Edward R. Wilcox, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin

J Clin Invest. 2018 Apr 2; 128(4): 1509–1522. Published online 2018 Mar 12. doi: 10.1172/JCI97350

PMCID:: PMC5873844

Article PDF–17M

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