PMC Articles for MedGen (Select 388720) - PMC

Select item 64461071.

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

PMCID:: PMC6446107

Article PDF–1.1M

Select item 59167542.

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 17356853.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

K Cryns, E Orzan, A Murgia, P Huygen, F Moreno, I del Castillo, C Parker, H Azaiez, S Prasad, R Cucci, E Leonardi, R Snoeckx, P Govaerts, P H Van de Heyning, C M Van de Heyning, R Smith, G Van Camp

J Med Genet. 2004 Mar; 41(3): 147–154. doi: 10.1136/jmg.2003.013896

PMCID:: PMC1735685

Summary PDF–429K

Select item 102186094.

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia)

Vera G. Pshennikova, Fedor M. Teryutin, Alexandra M. Cherdonova, Tuyara V. Borisova, Aisen V. Solovyev, Georgii P. Romanov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh, Sardana A. Fedorova, Nikolay A. Barashkov

Genes (Basel) 2023 May; 14(5): 1001. Published online 2023 Apr 28. doi: 10.3390/genes14051001

PMCID:: PMC10218609

Article PDF–2.1M

Select item 101829405.

The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice

Qing Li, Chong Cui, Rongyu Liao, Xidi Yin, Daqi Wang, Yanbo Cheng, Bowei Huang, Liqin Wang, Meng Yan, Jinan Zhou, Jingjing Zhao, Wei Tang, Yingyi Wang, Xiaohan Wang, Jun Lv, Jinsong Li, Huawei Li, Yilai Shu

Cell Mol Life Sci. 2023; 80(6): 148. Published online 2023 May 13. doi: 10.1007/s00018-023-04794-9

PMCID:: PMC10182940

Article PDF–2.9M

Select item 91244696.

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example

Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu, Huaiyan Wang

Appl Clin Genet. 2022; 15: 39–48. Published online 2022 May 18. doi: 10.2147/TACG.S362148

PMCID:: PMC9124469

Article PDF–1.0M

Select item 88691677.

Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population

Georgii P. Romanov, Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin, Aisen V. Solovyev, Sardana A. Fedorova, Olga L. Posukh, Sergey A. Lashin, Nikolay A. Barashkov

Biology (Basel) 2022 Feb; 11(2): 257. Published online 2022 Feb 7. doi: 10.3390/biology11020257

PMCID:: PMC8869167

Article PDF–1.1M

Select item 66271148.

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Olga L. Posukh, Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu. Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov, Michael I. Voevoda

Genes (Basel) 2019 Jun; 10(6): 429. Published online 2019 Jun 5. doi: 10.3390/genes10060429

PMCID:: PMC6627114

Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 8

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity