These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family. Bakhchane A; Charoute H; Nahili H; Roky R; Rouba H; Charif M; Lenaers G; Barakat A Gene; 2015 Dec; 574(1):28-33. PubMed ID: 26226225 [TBL] [Abstract][Full Text] [Related]
4. PDZD7 and hearing loss: More than just a modifier. Booth KT; Azaiez H; Kahrizi K; Simpson AC; Tollefson WT; Sloan CM; Meyer NC; Babanejad M; Ardalani F; Arzhangi S; Schnieders MJ; Najmabadi H; Smith RJ Am J Med Genet A; 2015 Dec; 167A(12):2957-65. PubMed ID: 26416264 [TBL] [Abstract][Full Text] [Related]
5. Novel Mutations in KCNQ4, LHFPL5 and COCH Genes in Iranian Families with Hearing Impairment. Mehregan H; Mohseni M; Akbari M; Jalalvand K; Arzhangi S; Nikzat N; Kahrizi K; Najmabadi H Arch Iran Med; 2019 Apr; 22(4):189-197. PubMed ID: 31126177 [TBL] [Abstract][Full Text] [Related]
6. Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. Marková S; Šafka Brožková D; Mészárosová A; Neupauerová J; Groh D; Křečková G; Laššuthová P; Seeman P Int J Pediatr Otorhinolaryngol; 2016 Jul; 86():27-33. PubMed ID: 27260575 [TBL] [Abstract][Full Text] [Related]
7. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Young TL; Ives E; Lynch E; Person R; Snook S; MacLaren L; Cater T; Griffin A; Fernandez B; Lee MK; King MC Hum Mol Genet; 2001 Oct; 10(22):2509-14. PubMed ID: 11709538 [TBL] [Abstract][Full Text] [Related]
8. Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families. AitRaise I; Amalou G; Bakhchane A; Bousfiha A; Abdelghaffar H; Majida C; Bonnet C; Petit C; Barakat A Biochem Genet; 2024 Jun; 62(3):1914-1924. PubMed ID: 37777971 [TBL] [Abstract][Full Text] [Related]
9. Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia). Сhurbanov AY; Karafet TM; Morozov IV; Mikhalskaia VY; Zytsar MV; Bondar AA; Posukh OL PLoS One; 2016; 11(4):e0153841. PubMed ID: 27082237 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss. Lee J; Baek JI; Choi JY; Kim UK; Lee SH; Lee KY Gene; 2013 Dec; 532(2):276-80. PubMed ID: 23958653 [TBL] [Abstract][Full Text] [Related]
12. Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next-generation sequencing. Bai X; Nian S; Feng L; Ruan Q; Luo X; Wu M; Yan Z Mol Genet Genomic Med; 2019 Aug; 7(8):e808. PubMed ID: 31250571 [TBL] [Abstract][Full Text] [Related]
13. High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5. Lerat J; Bonnet C; Cartault F; Loundon N; Jacquemont ML; Darcel F; Rouillon I; Mezouaghi K; Guichet A; Litzler J; Gesny R; Gherbi S; Aissa IB; Digeon FSJ; Garabedian EN; Bonnefont JP; Genin E; Denoyelle F; Jonard L; Marlin S Clin Genet; 2019 Jan; 95(1):177-181. PubMed ID: 30298622 [TBL] [Abstract][Full Text] [Related]
14. Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment. Kakar MU; Akram M; Zubair Mehboob M; Younus M; Bilal M; Waqas A; Nazir A; Shafi M; Umair M; Ahmad S; Rafeeq MM PLoS One; 2022; 17(6):e0268078. PubMed ID: 35709191 [TBL] [Abstract][Full Text] [Related]
15. Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding. Yu X; Zhao Q; Li X; Chen Y; Tian Y; Liu S; Xiong W; Huang P Proc Natl Acad Sci U S A; 2020 Nov; 117(47):29894-29903. PubMed ID: 33168709 [TBL] [Abstract][Full Text] [Related]
16. Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss. Park HR; Kanwal S; Lim SO; Nam DE; Choi YJ; Chung KW Mol Biol Rep; 2020 Dec; 47(12):9979-9985. PubMed ID: 33269433 [TBL] [Abstract][Full Text] [Related]
17. Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing. Davoudi-Dehaghani E; Fallah MS; Tavakkoly-Bazzaz J; Bagherian H; Zeinali S Acta Otolaryngol; 2015 Feb; 135(2):125-9. PubMed ID: 25423259 [TBL] [Abstract][Full Text] [Related]
18. Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss. Xia H; Huang X; Guo Y; Hu P; He G; Deng X; Xu H; Yang Z; Deng H PLoS One; 2015; 10(8):e0136306. PubMed ID: 26308726 [TBL] [Abstract][Full Text] [Related]
19. Identification of a novel homozygous mutation in MYO3A in a Chinese family with DFNB30 non-syndromic hearing impairment. Qu R; Sang Q; Xu Y; Feng R; Jin L; He L; Wang L Int J Pediatr Otorhinolaryngol; 2016 May; 84():43-7. PubMed ID: 27063751 [TBL] [Abstract][Full Text] [Related]
20. Identification of a novel homozygous mutation in transmembrane channel like 1 ( Singh PK; Ghosh M; Sharma S; Shastri S; Gupta N; Chowdhury MR; Anand A; Kabra M Indian J Med Res; 2017 Apr; 145(4):492-497. PubMed ID: 28862181 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]