Detalles de la búsqueda
1.
Genetic etiology of hearing loss in Russia.
Hum Genet;
141(3-4): 649-663, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34363095
2.
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Hum Genet;
141(3-4): 697-707, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34839402
3.
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.
Nature;
538(7624): 201-206, 2016 Oct 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-27654912
4.
Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.
Int J Mol Sci;
23(21)2022 Nov 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36362242
5.
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
ScientificWorldJournal;
2019: 5198931, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31015822
6.
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.
BMC Med Genet;
19(1): 138, 2018 08 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30086704
7.
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia).
Genes (Basel);
14(4)2023 04 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37107686
8.
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Biomolecules;
13(10)2023 10 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-37892203
9.
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).
Genes (Basel);
14(5)2023 04 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-37239361
10.
Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population.
Biology (Basel);
11(2)2022 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35205123
11.
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
J Hum Genet;
56(9): 631-9, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21776002
12.
Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.
Biomolecules;
11(1)2021 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33466560
13.
Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
Diagnostics (Basel);
11(12)2021 Dec 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-34943614
14.
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.
Eur J Hum Genet;
29(6): 965-976, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33767456
15.
Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.
J Hum Genet;
55(11): 749-54, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20739944
16.
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.
Genes (Basel);
11(7)2020 07 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-32708339
17.
A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia.
PLoS One;
15(11): e0242219, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33253245
18.
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).
Genes (Basel);
10(6)2019 06 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-31195736
19.
A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in the MITF gene in Yakut patient from the Eastern Siberia (Sakha Republic, Russia).
Int J Circumpolar Health;
78(1): 1630219, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31213145
20.
A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).
Int J Pediatr Otorhinolaryngol;
104: 94-97, 2018 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-29287890