155 related articles for article (PubMed ID: 34071867)
1. Genetic Variant c.245A>G (p.Asn82Ser) in
Petrova NV; Marakhonov AV; Balinova NV; Abrukova AV; Konovalov FA; Kutsev SI; Zinchenko RA
Genes (Basel); 2021 May; 12(6):. PubMed ID: 34071867
[TBL] [Abstract][Full Text] [Related]
2. Challenges in whole exome sequencing: an example from hereditary deafness.
Sirmaci A; Edwards YJ; Akay H; Tekin M
PLoS One; 2012; 7(2):e32000. PubMed ID: 22363784
[TBL] [Abstract][Full Text] [Related]
3. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
[TBL] [Abstract][Full Text] [Related]
4. A novel missense mutation in GIPC3 causes sensorineural hearing loss in an Iranian family revealed by targeted next-generation sequencing.
Asgharzade S; Tabatabaiefar MA; Mohammadi-Asl J; Chaleshtori MH
Int J Pediatr Otorhinolaryngol; 2018 May; 108():8-11. PubMed ID: 29605370
[TBL] [Abstract][Full Text] [Related]
5. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family.
Siddiqi S; Ismail M; Oostrik J; Munawar S; Mansoor A; Kremer H; Qamar R; Schraders M
J Hum Genet; 2014 Dec; 59(12):683-6. PubMed ID: 25296581
[TBL] [Abstract][Full Text] [Related]
6. Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.
Charizopoulou N; Lelli A; Schraders M; Ray K; Hildebrand MS; Ramesh A; Srisailapathy CR; Oostrik J; Admiraal RJ; Neely HR; Latoche JR; Smith RJ; Northup JK; Kremer H; Holt JR; Noben-Trauth K
Nat Commun; 2011 Feb; 2():201. PubMed ID: 21326233
[TBL] [Abstract][Full Text] [Related]
7. POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Kitano T; Miyagawa M; Nishio SY; Moteki H; Oda K; Ohyama K; Miyazaki H; Hidaka H; Nakamura KI; Murata T; Matsuoka R; Ohta Y; Nishiyama N; Kumakawa K; Furutate S; Iwasaki S; Yamada T; Ohta Y; Uehara N; Noguchi Y; Usami SI
PLoS One; 2017; 12(5):e0177636. PubMed ID: 28545070
[TBL] [Abstract][Full Text] [Related]
8. Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.
Felix F; Ribeiro MG; Tomita S; Zalis MG
Braz J Otorhinolaryngol; 2019; 85(1):92-98. PubMed ID: 29773520
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
Bai X; Lv H; Zhang F; Liu J; Fan Z; Xu L; Han Y; Chai R; Li J; Wang H
Am J Med Genet A; 2014 Dec; 164A(12):3052-60. PubMed ID: 25250959
[TBL] [Abstract][Full Text] [Related]
10. [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].
Dzhemileva LU; Posukh OL; Tazetdinov AM; Barashkov NA; Zhuravskiĭ SG; Ponidelko SN; Markova TG; Tadinova VN; Fedorova SA; Maksimova NR; Khusnutdinova EK
Genetika; 2009 Jul; 45(7):982-91. PubMed ID: 19705751
[TBL] [Abstract][Full Text] [Related]
11. [Prevalence and molecular-genetic typing of nonsyndromal neurosensory deafness in the Chuvash Republic].
Zinchenko RA; Zinchenko SP; Galkina VA; El'chinova GI; Nurbaev SD; Poliakov AV; Nekrasova NIu; Ginter EK
Genetika; 2003 Sep; 39(9):1275-84. PubMed ID: 14582398
[TBL] [Abstract][Full Text] [Related]
12. Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next-generation sequencing.
Xiao C; Liu S; Wang H; Ding Y; Chen Y; Liu H
Mol Genet Genomic Med; 2021 Apr; 9(4):e1634. PubMed ID: 33638616
[TBL] [Abstract][Full Text] [Related]
13. Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
Carvalho SDCES; Grangeiro CHP; Picanço-Albuquerque CG; Dos Anjos TO; De Molfetta GA; Silva WA; Ferraz VEF
BMC Res Notes; 2018 Aug; 11(1):546. PubMed ID: 30068397
[TBL] [Abstract][Full Text] [Related]
14. Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.
Rehman AU; Gul K; Morell RJ; Lee K; Ahmed ZM; Riazuddin S; Ali RA; Shahzad M; Jaleel AU; Andrade PB; Khan SN; Khan S; Brewer CC; Ahmad W; Leal SM; Riazuddin S; Friedman TB
Hum Genet; 2011 Dec; 130(6):759-65. PubMed ID: 21660509
[TBL] [Abstract][Full Text] [Related]
15. Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
Pollak A; Lechowicz U; Murcia Pieńkowski VA; Stawiński P; Kosińska J; Skarżyński H; Ołdak M; Płoski R
BMC Med Genet; 2017 Dec; 18(1):142. PubMed ID: 29197352
[TBL] [Abstract][Full Text] [Related]
16. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Yariz KO; Duman D; Zazo Seco C; Dallman J; Huang M; Peters TA; Sirmaci A; Lu N; Schraders M; Skromne I; Oostrik J; Diaz-Horta O; Young JI; Tokgoz-Yilmaz S; Konukseven O; Shahin H; Hetterschijt L; Kanaan M; Oonk AM; Edwards YJ; Li H; Atalay S; Blanton S; Desmidt AA; Liu XZ; Pennings RJ; Lu Z; Chen ZY; Kremer H; Tekin M
Am J Hum Genet; 2012 Nov; 91(5):872-82. PubMed ID: 23122586
[TBL] [Abstract][Full Text] [Related]
17. Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su X; Feng Y; Rahman SA; Wu S; Li G; Rüschendorf F; Zhao L; Cui H; Liang J; Fang L; Hu H; Froehler S; Yu Y; Patone G; Hummel O; Chen Q; Raile K; Luft FC; Bähring S; Hussain K; Chen W; Zhang J; Gong M
J Genet Genomics; 2020 Oct; 47(10):618-626. PubMed ID: 33358777
[TBL] [Abstract][Full Text] [Related]
18. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
Laryngoscope; 2008 Nov; 118(11):2014-23. PubMed ID: 18758381
[TBL] [Abstract][Full Text] [Related]
19. Low incidence of
Kalaimathi M; Subathra M; Jeffrey JM; Selvakumari M; Chandru J; Sharanya N; Paridhy VS; Srisailapathy CRS
J Genet; 2020; 99():. PubMed ID: 33168789
[TBL] [Abstract][Full Text] [Related]
20. Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing.
Bitarafan F; Seyedena SY; Mahmoudi M; Garshasbi M
J Clin Lab Anal; 2020 Dec; 34(12):e23544. PubMed ID: 32864763
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
