298 related articles for article (PubMed ID: 31129248)
1. Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.
Luo H; Hassan RN; Yan J; Xie J; Du P; Hu Q; Zhu Y; Jiang W
Gene; 2019 Aug; 709():65-74. PubMed ID: 31129248
[TBL] [Abstract][Full Text] [Related]
2. Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.
Guan J; Wang H; Lan L; Wang L; Yang J; Xie L; Yin Z; Xiong W; Zhao L; Wang D; Wang Q
Am J Med Genet A; 2018 Jan; 176(1):99-106. PubMed ID: 29048736
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.
Lin F; Li D; Wang P; Fan D; De J; Zhu W
Int J Pediatr Otorhinolaryngol; 2014 Dec; 78(12):2216-21. PubMed ID: 25458163
[TBL] [Abstract][Full Text] [Related]
5. Identification of a Potential Founder Effect of a Novel
Lee SY; Han JH; Kim BJ; Oh SH; Lee S; Oh DY; Choi BY
Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31454969
[TBL] [Abstract][Full Text] [Related]
6. Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Bai X; Zhang C; Zhang F; Xiao Y; Jin Y; Wang H; Xu L
Biomed Res Int; 2020; 2020():1685974. PubMed ID: 32149082
[TBL] [Abstract][Full Text] [Related]
7. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Vona B; Lechno S; Hofrichter MA; Hopf S; Läig AK; Haaf T; Keilmann A; Zechner U; Bartsch O
Ear Hear; 2016; 37(4):e238-46. PubMed ID: 26849169
[TBL] [Abstract][Full Text] [Related]
8. A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Fahimi H; Behroozi S; Noavar S; Parvini F
BMC Med Genomics; 2021 Feb; 14(1):37. PubMed ID: 33530996
[TBL] [Abstract][Full Text] [Related]
9. Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.
Gao X; Su Y; Chen YL; Han MY; Yuan YY; Xu JC; Xin F; Zhang MG; Huang SS; Wang GJ; Kang DY; Guan LP; Zhang JG; Dai P
PLoS One; 2015; 10(4):e0124757. PubMed ID: 25919374
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.
Wang L; Zhang Y; Xue Q; Huang P; Liu X
J Clin Lab Anal; 2022 Oct; 36(10):e24653. PubMed ID: 36217262
[TBL] [Abstract][Full Text] [Related]
11. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.
Sarmadi A; Nasrniya S; Narrei S; Nouri Z; Abtahi H; Tabatabaiefar MA
Mol Biol Rep; 2020 Jul; 47(7):5355-5364. PubMed ID: 32623615
[TBL] [Abstract][Full Text] [Related]
12. Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM; Park HJ; Park MH; Kim BY; Shin JW; Yoo WG; Koo SK
BMC Med Genet; 2014 Apr; 15():46. PubMed ID: 24767429
[TBL] [Abstract][Full Text] [Related]
13. A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
Ghasemnejad T; Shekari Khaniani M; Nouri Nojadeh J; Mansoori Derakhshan S
BMC Med Genomics; 2022 Feb; 15(1):18. PubMed ID: 35101039
[TBL] [Abstract][Full Text] [Related]
14. Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.
Hu J; Liu F; Xia W; Hao L; Lan J; Zhu Z; Ye J; Ma D; Ma Z
J Transl Med; 2016 Jan; 14():29. PubMed ID: 26822030
[TBL] [Abstract][Full Text] [Related]
15. Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.
Du Q; Sun Q; Gu X; Wang J; Li W; Guo L; Li H
BMC Med Genomics; 2022 Jun; 15(1):135. PubMed ID: 35715776
[TBL] [Abstract][Full Text] [Related]
16. Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O; Duman D; Foster J; Sırmacı A; Gonzalez M; Mahdieh N; Fotouhi N; Bonyadi M; Cengiz FB; Menendez I; Ulloa RH; Edwards YJ; Züchner S; Blanton S; Tekin M
PLoS One; 2012; 7(11):e50628. PubMed ID: 23226338
[TBL] [Abstract][Full Text] [Related]
17. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
[TBL] [Abstract][Full Text] [Related]
18. Next-generation sequencing reveals a novel pathological mutation in the TMC1 gene causing autosomal recessive non-syndromic hearing loss in an Iranian kindred.
Sadeghian L; Tabatabaiefar MA; Fattahi N; Pourreza MR; Tahmasebi P; Alavi Z; Hashemzadeh Chaleshtori M
Int J Pediatr Otorhinolaryngol; 2019 Sep; 124():99-105. PubMed ID: 31176026
[TBL] [Abstract][Full Text] [Related]
19. Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss.
Liang P; Chen F; Wang S; Li Q; Li W; Wang J; Chen J; Zha D
Int J Pediatr Otorhinolaryngol; 2021 Sep; 148():110817. PubMed ID: 34265623
[TBL] [Abstract][Full Text] [Related]
20. ARNSHL gene identification: past, present and future.
Imtiaz A
Mol Genet Genomics; 2022 Sep; 297(5):1185-1193. PubMed ID: 35869994
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]