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Select item 108870741.

Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles

Leonardo Franz, Alessandro Incognito, Chiara Gallo, Licia Turolla, Elisa Scquizzato, Roberta Cenedese, Alessandro Matarazzo, Daniel Savegnago, Paolo Zanatta, Elisabetta Genovese, Cosimo de Filippis, Gino Marioni

Children (Basel) 2024 Feb; 11(2): 194. Published online 2024 Feb 3. doi: 10.3390/children11020194

PMCID:: PMC10887074

Abstract Article PDF–1.2M

Select item 105869072.

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation

Rand Murshidi, Heba Al-lala

Case Rep Dermatol Med. 2023; 2023: 5577379. Published online 2023 Oct 12. doi: 10.1155/2023/5577379

PMCID:: PMC10586907

Abstract Article PDF–1.0M

Select item 100131063.

Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report

Ming-Yi Liao, Hui Peng, Long-Nian Li, Tao Yang, Shi-Yin Xiong, Xiao-Ying Ye

World J Clin Cases. 2023 Feb 26; 11(6): 1403–1409. Published online 2023 Feb 26. doi: 10.12998/wjcc.v11.i6.1403

PMCID:: PMC10013106

Abstract Article PDF–3.3M

Select item 95613024.

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome

Yanjiang Xu, Minhua Wang, Ling Huang, Jie Hu

Ann Dermatol. 2022 Oct; 34(5): 382–386. Published online 2022 Sep 20. doi: 10.5021/ad.20.278

PMCID:: PMC9561302

Abstract Article PDF–4.2M

Select item 95307505.

GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy

Wei Liu, Helge Rask-Andersen

Front Mol Neurosci. 2022; 15: 973646. Published online 2022 Sep 20. doi: 10.3389/fnmol.2022.973646

PMCID:: PMC9530750

Abstract Article PDF–7.3M

Select item 94461726.

Prevalence of 35de1G/GJB2 and del (GJB6-D13S1830) mutations in patients with non-syndromic deafness from a population of Espírito Santo - Brazil

Melissa de Freitas Cordeiro-Silva, Andressa Barbosa, Marília Santiago, Mariana Provetti, Eliete Rabbi-Bortolini

Braz J Otorhinolaryngol. 2010 Jul-Aug; 76(4): 428–432. Published online 2015 Oct 19. doi: 10.1590/S1808-86942010000400004

PMCID:: PMC9446172

Abstract Article PDF–174K

Select item 91440477.

Metabolomics Analysis and Antioxidant Potential of Endophytic Diaporthe fraxini ED2 Grown in Different Culture Media

Wen-Nee Tan, Kashvintha Nagarajan, Vuanghao Lim, Juzaili Azizi, Kooi-Yeong Khaw, Woei-Yenn Tong, Chean-Ring Leong, Nelson Jeng-Yeou Chear

J Fungi (Basel) 2022 May; 8(5): 519. Published online 2022 May 18. doi: 10.3390/jof8050519

PMCID:: PMC9144047

Abstract Article PDF–1.3M

Select item 80524838.

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population

Somayeh Ebrahimkhani, Golnaz Asaadi Tehrani

Iran J Otorhinolaryngol. 2021 Mar; 33(115): 79–86. doi: 10.22038/ijorl.2020.45196.2483

PMCID:: PMC8052483

Abstract Article PDF–772K

Select item 75897449.

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón

Genes (Basel) 2020 Oct; 11(10): 1233. Published online 2020 Oct 21. doi: 10.3390/genes11101233

PMCID:: PMC7589744

Abstract Article PDF–2.3M

Select item 744613410.

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang

Hereditas. 2020; 157: 34. Published online 2020 Aug 25. doi: 10.1186/s41065-020-00148-8

PMCID:: PMC7446134

Abstract Article PDF–925K

Select item 738986211.

1个有汗性外胚层发育不良大家系的基因研究

乔文兴, 刘俐

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Nov 15; 18(11): 1141–1144. Chinese. doi: 10.7499/j.issn.1008-8830.2016.11.017

PMCID:: PMC7389862

Abstract Article PDF–1.8M

Select item 719646312.

Analyses of del(GJB6‐D13S1830) and del(GJB6‐D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Arti Pandya, Alexander O'Brien, Michael Kovasala, Guney Bademci, Mustafa Tekin, Kathleen S. Arnos

Mol Genet Genomic Med. 2020 Apr; 8(4): e1171. Published online 2020 Feb 17. doi: 10.1002/mgg3.1171

PMCID:: PMC7196463

Abstract Article PDF–903K

Select item 693719413.

The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas

Hande Küçük Kurtulgan, Emine Elif Altuntaş, Malik Ejder Yıldırım, Öztürk Özdemir, Binnur Bağcı, İlhan Sezgin

J Int Adv Otol. 2019 Dec; 15(3): 373–378. doi: 10.5152/iao.2019.5401

PMCID:: PMC6937194

Abstract Article PDF–1.6M

Select item 689596514.

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon

Edmond Tingang Wonkam, Emile Chimusa, Jean Jacques Noubiap, Samuel Mawuli Adadey, Jean Valentin F. Fokouo, Ambroise Wonkam

Genes (Basel) 2019 Nov; 10(11): 844. Published online 2019 Oct 25. doi: 10.3390/genes10110844

PMCID:: PMC6895965

Abstract Article PDF–1.2M

Select item 688947115.

Erratum: GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Frontiers Production Office

Front Genet. 2019; 10: 1151. Published online 2019 Nov 26. doi: 10.3389/fgene.2019.01151

Corrects:: Front Genet. 2019; 10: 841.

PMCID:: PMC6889471

Correction PDF–582K

Select item 681711316.

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

Kaitian Chen, Xuan Wu, Ling Zong, Hongyan Jiang

J Clin Lab Anal. 2018 Nov; 32(9): e22592. Published online 2018 Jun 21. doi: 10.1002/jcla.22592

PMCID:: PMC6817113

Abstract Article PDF–625K

Select item 675968917.

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Samuel M. Adadey, Noluthando Manyisa, Khuthala Mnika, Carmen de Kock, Victoria Nembaware, Osbourne Quaye, Geoffrey K. Amedofu, Gordon A. Awandare, Ambroise Wonkam

Front Genet. 2019; 10: 841. Published online 2019 Sep 18. doi: 10.3389/fgene.2019.00841

Correction in:: Front Genet. 2019; 10: 1151.

PMCID:: PMC6759689

Abstract Article PDF–1.2M

Select item 662513118.

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

Abstract Article PDF–734K

Select item 644610719.

Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)

Vera G. Pshennikova, Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov'ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova, Sergey S. Nakhodkin, Nikolay N. Sazonov, Igor V. Morozov, Alexander A. Bondar, Lilya U. Dzhemileva, Elza K. Khusnutdinova, Olga L. Posukh, Sardana A. Fedorova

ScientificWorldJournal. 2019; 2019: 5198931. Published online 2019 Mar 20. doi: 10.1155/2019/5198931