242 related articles for article (PubMed ID: 23122586)
1. 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]
2. Novel heterozygous mutations in the otogelin-like (OTOGL) gene in a child with bilateral mild nonsyndromic sensorineural hearing loss.
Pan C; Li J; Wang S; Shi C; Zhang Y; Yu Y
Gene; 2022 Jan; 808():146000. PubMed ID: 34626719
[TBL] [Abstract][Full Text] [Related]
3. [Phenotype and genotype analysis of recessive hereditary moderate sensorineural hearing loss caused by new mutations in OTOGL gene].
Feng ML; Huang SS; Tang FZ; Zhang X; Li XH; Qiu SW; Yuan YY
Zhonghua Yi Xue Za Zhi; 2021 Jan; 101(2):115-121. PubMed ID: 33455126
[No Abstract] [Full Text] [Related]
4. Similar phenotypes caused by mutations in OTOG and OTOGL.
Oonk AM; Leijendeckers JM; Huygen PL; Schraders M; del Campo M; del Castillo I; Tekin M; Feenstra I; Beynon AJ; Kunst HP; Snik AF; Kremer H; Admiraal RJ; Pennings RJ
Ear Hear; 2014; 35(3):e84-91. PubMed ID: 24378291
[TBL] [Abstract][Full Text] [Related]
5. The OTOGL p.Arg925* Variant is Associated with Moderate Hearing Loss in a Syrian Nonconsanguineous Family.
Barake R; Abou-Rizk S; Nemer G; Bassim M
Genet Test Mol Biomarkers; 2017 Jul; 21(7):445-449. PubMed ID: 28426234
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.
Gu X; Sun S; Guo L; Lu X; Mei H; Lai C; Li H
Int J Pediatr Otorhinolaryngol; 2015 Jun; 79(6):817-820. PubMed ID: 25829320
[TBL] [Abstract][Full Text] [Related]
8. Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.
Bonnet C; Louha M; Loundon N; Michalski N; Verpy E; Smagghe L; Hardelin JP; Rouillon I; Jonard L; Couderc R; Gherbi S; Garabedian EN; Denoyelle F; Petit C; Marlin S
Gene; 2013 Sep; 527(2):537-40. PubMed ID: 23850727
[TBL] [Abstract][Full Text] [Related]
9. Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Schraders M; Ruiz-Palmero L; Kalay E; Oostrik J; del Castillo FJ; Sezgin O; Beynon AJ; Strom TM; Pennings RJ; Zazo Seco C; Oonk AM; Kunst HP; Domínguez-Ruiz M; García-Arumi AM; del Campo M; Villamar M; Hoefsloot LH; Moreno F; Admiraal RJ; del Castillo I; Kremer H
Am J Hum Genet; 2012 Nov; 91(5):883-9. PubMed ID: 23122587
[TBL] [Abstract][Full Text] [Related]
10. HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.
Azaiez H; Decker AR; Booth KT; Simpson AC; Shearer AE; Huygen PL; Bu F; Hildebrand MS; Ranum PT; Shibata SB; Turner A; Zhang Y; Kimberling WJ; Cornell RA; Smith RJ
PLoS Genet; 2015 Mar; 11(3):e1005137. PubMed ID: 25816005
[TBL] [Abstract][Full Text] [Related]
11. MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Wesdorp M; Murillo-Cuesta S; Peters T; Celaya AM; Oonk A; Schraders M; Oostrik J; Gomez-Rosas E; Beynon AJ; Hartel BP; Okkersen K; Koenen HJPM; Weeda J; Lelieveld S; Voermans NC; Joosten I; Hoyng CB; Lichtner P; Kunst HPM; Feenstra I; de Bruijn SE; ; Admiraal RJC; Yntema HG; van Wijk E; Del Castillo I; Serra P; Varela-Nieto I; Pennings RJE; Kremer H
Am J Hum Genet; 2018 Jul; 103(1):74-88. PubMed ID: 29961571
[TBL] [Abstract][Full Text] [Related]
12. New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.
Xia W; Hu J; Liu F; Ma J; Sun S; Zhang J; Jin K; Huang J; Jiang N; Wang X; Li W; Ma Z; Ma D
Hum Mutat; 2017 Oct; 38(10):1421-1431. PubMed ID: 28677207
[TBL] [Abstract][Full Text] [Related]
13. Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K; Al-Owain M; Al-Numair NS; Afzal S; Al-Ageel S; Al-Amer S; Al-Baik L; Al-Otaibi GF; Hashem A; Al-Mashharawi E; Basit S; Al-Mazroea AH; Softah A; Sogaty S; Imtiaz F
Am J Med Genet B Neuropsychiatr Genet; 2020 Apr; 183(3):172-180. PubMed ID: 31854501
[TBL] [Abstract][Full Text] [Related]
14. Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
Rajab A; Kelberman D; de Castro SC; Biebermann H; Shaikh H; Pearce K; Hall CM; Shaikh G; Gerrelli D; Grueters A; Krude H; Dattani MT
Hum Mol Genet; 2008 Jul; 17(14):2150-9. PubMed ID: 18407919
[TBL] [Abstract][Full Text] [Related]
15. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
Mey K; Muhamad AA; Tranebjaerg L; Rendtorff ND; Rasmussen SH; Bille M; Cayé-Thomasen P
Laryngoscope; 2019 Nov; 129(11):2574-2579. PubMed ID: 31633822
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Spatiotemporal expression of otogelin in the developing and adult mouse inner ear.
El-Amraoui A; Cohen-Salmon M; Petit C; Simmler MC
Hear Res; 2001 Aug; 158(1-2):151-9. PubMed ID: 11506947
[TBL] [Abstract][Full Text] [Related]
18. [Analysis the relationship between SLC26A4 mutation and current diagnosis of inner ear malformation in children with sensorineural hearing loss].
Sun B; Zhou C; Dai Z
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2014 Nov; 28(22):1741-4. PubMed ID: 25752102
[TBL] [Abstract][Full Text] [Related]
19. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E; Li Y; Uzumcu A; Uyguner O; Collin RW; Caylan R; Ulubil-Emiroglu M; Kersten FF; Hafiz G; van Wijk E; Kayserili H; Rohmann E; Wagenstaller J; Hoefsloot LH; Strom TM; Nürnberg G; Baserer N; den Hollander AI; Cremers FP; Cremers CW; Becker C; Brunner HG; Nürnberg P; Karaguzel A; Basaran S; Kubisch C; Kremer H; Wollnik B
Hum Mutat; 2006 Jul; 27(7):633-9. PubMed ID: 16752389
[TBL] [Abstract][Full Text] [Related]
20. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
Diaz-Horta O; Subasioglu-Uzak A; Grati M; DeSmidt A; Foster J; Cao L; Bademci G; Tokgoz-Yilmaz S; Duman D; Cengiz FB; Abad C; Mittal R; Blanton S; Liu XZ; Farooq A; Walz K; Lu Z; Tekin M
Proc Natl Acad Sci U S A; 2014 Jul; 111(27):9864-8. PubMed ID: 24958875
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
