Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Genetic etiology of hearing loss in Russia.

Posukh, Olga L.

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.

Solovyev, Aisen V; Kushniarevich, Alena; Bliznetz, Elena; Bady-Khoo, Marita; Lalayants, Maria R; Markova, Tatiana G; Minárik, Gabriel; Kádasi, L'udevít; Metspalu, Ene; Pshennikova, Vera G; Teryutin, Fedor M; Khusnutdinova, Elza K; Poliakov, Alexander; Metspalu, Mait; Posukh, Olga L; Barashkov, Nikolay A; Fedorova, Sardana A.

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.

Mallick, Swapan; Li, Heng; Lipson, Mark; Mathieson, Iain; Gymrek, Melissa; Racimo, Fernando; Zhao, Mengyao; Chennagiri, Niru; Nordenfelt, Susanne; Tandon, Arti; Skoglund, Pontus; Lazaridis, Iosif; Sankararaman, Sriram; Fu, Qiaomei; Rohland, Nadin; Renaud, Gabriel; Erlich, Yaniv; Willems, Thomas; Gallo, Carla; Spence, Jeffrey P; Song, Yun S; Poletti, Giovanni; Balloux, Francois; van Driem, George; de Knijff, Peter; Romero, Irene Gallego; Jha, Aashish R; Behar, Doron M; Bravi, Claudio M; Capelli, Cristian; Hervig, Tor; Moreno-Estrada, Andres; Posukh, Olga L; Balanovska, Elena; Balanovsky, Oleg; Karachanak-Yankova, Sena; Sahakyan, Hovhannes; Toncheva, Draga; Yepiskoposyan, Levon; Tyler-Smith, Chris; Xue, Yali; Abdullah, M Syafiq; Ruiz-Linares, Andres; Beall, Cynthia M; Di Rienzo, Anna; Jeong, Choongwon; Starikovskaya, Elena B; Metspalu, Ene; Parik, Jüri; Villems, Richard.

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.

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Posukh, Olga L.

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).

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

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.

Zytsar, Marina V; Barashkov, Nikolay A; Bady-Khoo, Marita S; Shubina-Olejnik, Olga A; Danilenko, Nina G; Bondar, Alexander A; Morozov, Igor V; Solovyev, Aisen V; Danilchenko, Valeriia Yu; Maximov, Vladimir N; Posukh, Olga L.

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).

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Orishchenko, Konstantin E; Posukh, Olga L.

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.

Posukh, Olga L; Maslova, Ekaterina A; Danilchenko, Valeriia Yu; Zytsar, Marina V; Orishchenko, Konstantin E.

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).

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

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.

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

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.

Barashkov, Nikolay A; Dzhemileva, Lilya U; Fedorova, Sardana A; Teryutin, Fedor M; Posukh, Olga L; Fedotova, Elvira E; Lobov, Simeon L; Khusnutdinova, Elza K.

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.

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

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).

Danilchenko, Valeriia Yu; Zytsar, Marina V; Maslova, Ekaterina A; Bady-Khoo, Marita S; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L.

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.

Barashkov, Nikolay A; Konovalov, Fedor A; Borisova, Tuyara V; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Sapojnikova, Nadejda V; Vychuzhina, Lyubov S; Romanov, Georgii P; Gotovtsev, Nyurgun N; Morozov, Igor V; Bondar, Alexander A; Platonov, Fedor A; Burtseva, Tatiana E; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A.

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.

Dzhemileva, Lilya U; Barashkov, Nikolay A; Posukh, Olga L; Khusainova, Rita I; Akhmetova, Vita L; Kutuev, Ildus A; Gilyazova, Irina R; Tadinova, Vera N; Fedorova, Sardana A; Khidiyatova, Irina M; Lobov, Simeon L; Khusnutdinova, Elza K.

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.

Zytsar, Marina V; Bady-Khoo, Marita S; Danilchenko, Valeriia Yu; Maslova, Ekaterina A; Barashkov, Nikolay A; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L.

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.

Romanov, Georgii P; Pshennikova, Vera G; Lashin, Sergey A; Solovyev, Aisen V; Teryutin, Fedor M; Cherdonova, Aleksandra M; Borisova, Tuyara V; Sazonov, Nikolay N; Khusnutdinova, Elza K; Posukh, Olga L; Fedorova, Sardana A; Barashkov, Nikolay A.

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).

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

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).

Barashkov, Nikolay A; Romanov, Georgii P; Borisova, Uigulaana P; Solovyev, Aisen V; Pshennikova, Vera G; Teryutin, Fedor M; Bondar, Alexander A; Morozov, Igor V; Khusnutdinova, Elza K; Posukh, Olga L; Burtseva, Tatiana E; Odland, Jon Øyvind; Fedorova, Sardana A.

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).

Barashkov, Nikolay A; Klarov, Leonid A; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Konnikova, Edilia E; Romanov, Georgii P; Tobokhov, Alexander V; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Dzhemileva, Lilya U; Tomsky, Mikhail I; Khusnutdinova, Elza K; Fedorova, Sardana A.

Int J Pediatr Otorhinolaryngol ; 104: 94-97, 2018 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-29287890

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