225 related articles for article (PubMed ID: 23717403)
1. Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T; Nishio SY; Iwasa Y; Yano T; Kumakawa K; Abe S; Ishikawa K; Kojima H; Namba A; Oshikawa C; Usami S
PLoS One; 2013; 8(5):e63231. PubMed ID: 23717403
[TBL] [Abstract][Full Text] [Related]
2. Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
Wang H; Zhao Y; Yi Y; Gao Y; Liu Q; Wang D; Li Q; Lan L; Li N; Guan J; Yin Z; Han B; Zhao F; Zong L; Xiong W; Yu L; Song L; Yi X; Yang L; Petit C; Wang Q
PLoS One; 2014; 9(8):e103133. PubMed ID: 25116015
[TBL] [Abstract][Full Text] [Related]
3. Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J; Emery SB; Kim TB; Boerst AK; Lee K; Leal SM; Lesperance MM
Arch Otolaryngol Head Neck Surg; 2011 Jan; 137(1):54-9. PubMed ID: 21242547
[TBL] [Abstract][Full Text] [Related]
4. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS; Morín M; Meyer NC; Mayo F; Modamio-Hoybjor S; Mencía A; Olavarrieta L; Morales-Angulo C; Nishimura CJ; Workman H; DeLuca AP; del Castillo I; Taylor KR; Tompkins B; Goodman CW; Schrauwen I; Wesemael MV; Lachlan K; Shearer AE; Braun TA; Huygen PL; Kremer H; Van Camp G; Moreno F; Casavant TL; Smith RJ; Moreno-Pelayo MA
Hum Mutat; 2011 Jul; 32(7):825-34. PubMed ID: 21520338
[TBL] [Abstract][Full Text] [Related]
5. A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.
Ishikawa K; Naito T; Nishio SY; Iwasa Y; Nakamura K; Usami S; Ichimura K
Acta Otolaryngol; 2014 Jun; 134(6):557-63. PubMed ID: 24655070
[TBL] [Abstract][Full Text] [Related]
6. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Kamada F; Kure S; Kudo T; Suzuki Y; Oshima T; Ichinohe A; Kojima K; Niihori T; Kanno J; Narumi Y; Narisawa A; Kato K; Aoki Y; Ikeda K; Kobayashi T; Matsubara Y
J Hum Genet; 2006; 51(5):455-460. PubMed ID: 16596322
[TBL] [Abstract][Full Text] [Related]
7. A novel
Li Q; Liang P; Wang S; Li W; Wang J; Yang Y; An X; Chen J; Zha D
Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846771
[TBL] [Abstract][Full Text] [Related]
8. Absence of KCNQ4 mutation in Bengali families with ADNSHL originated from West Bengal, India.
Adhikary B; Bankura B; Biswas S; Paul S; Das M
Int J Pediatr Otorhinolaryngol; 2017 Sep; 100():35-38. PubMed ID: 28802383
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic features of nonsyndromic autosomal dominant sensorineural hearing loss: KCNQ4 is a gene responsible in Japanese.
Akita J; Abe S; Shinkawa H; Kimberling WJ; Usami S
J Hum Genet; 2001; 46(7):355-61. PubMed ID: 11450843
[TBL] [Abstract][Full Text] [Related]
10. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
Huang B; Liu Y; Gao X; Xu J; Dai P; Zhu Q; Yuan Y
BMC Med Genet; 2017 Mar; 18(1):36. PubMed ID: 28340560
[TBL] [Abstract][Full Text] [Related]
11. A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
Shin DH; Jung J; Koh YI; Rim JH; Lee JS; Choi HJ; Joo SY; Yu S; Cha DH; Lee SY; Lee JH; Lee MG; Choi JY; Gee HY
Hum Mutat; 2019 Mar; 40(3):335-346. PubMed ID: 30556268
[TBL] [Abstract][Full Text] [Related]
12. [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novel
Zhang X; Wang H; Li J; Li D; Wu K; Wu X; Wang Q
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2023 Jan; 37(1):25-30;35. PubMed ID: 36597364
[No Abstract] [Full Text] [Related]
13. KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.
Nie L
Curr Opin Otolaryngol Head Neck Surg; 2008 Oct; 16(5):441-4. PubMed ID: 18797286
[TBL] [Abstract][Full Text] [Related]
14. Identification of novel mutations in the KCNQ4 gene of patients with nonsyndromic deafness from Taiwan.
Su CC; Yang JJ; Shieh JC; Su MC; Li SY
Audiol Neurootol; 2007; 12(1):20-6. PubMed ID: 17033161
[TBL] [Abstract][Full Text] [Related]
15. A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
Van Camp G; Coucke PJ; Akita J; Fransen E; Abe S; De Leenheer EM; Huygen PL; Cremers CW; Usami S
Hum Mutat; 2002 Jul; 20(1):15-9. PubMed ID: 12112653
[TBL] [Abstract][Full Text] [Related]
16. Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.
Plevova P; Tvrda P; Paprskarova M; Turska P; Kantorova B; Mrazkova E; Zapletalova J
Medicina (Kaunas); 2018 May; 54(2):. PubMed ID: 30344259
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
Jung J; Choi HB; Koh YI; Rim JH; Choi HJ; Kim SH; Lee JH; An J; Kim A; Lee JS; Joo SY; Yu S; Choi JY; Kang TM; Gee HY
Sci Rep; 2018 Nov; 8(1):16659. PubMed ID: 30413759
[TBL] [Abstract][Full Text] [Related]
19. A
Yen TT; Chen IC; Hua MW; Wei CY; Shih KH; Li JL; Lin CH; Hsiao TH; Chen YM; Jiang RS
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828318
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H; Kanda Y; Ohta S; Usami SI
J Hum Genet; 2007; 52(6):510-515. PubMed ID: 17492394
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]