Similar articles for PMID: 30174017

Year	Number of Results
2007	2
2009	1
2011	6
2012	2
2013	8
2014	8
2015	9
2016	11
2017	13
2018	21
2019	13
2020	15
2021	8
2022	3
2023	1
2024	0

1

Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family.

Gao S, Jiang Y, Wang G, Yuan Y, Huang S, Gao X, Li X, Zhang D, Wu J, Ji X, Deng T, Wang L, Kang D, Dai P. Gao S, et al. Int J Pediatr Otorhinolaryngol. 2018 Oct;113:88-93. doi: 10.1016/j.ijporl.2018.07.022. Epub 2018 Jul 17. Int J Pediatr Otorhinolaryngol. 2018. PMID: 30174017

2

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

Niu Z, Feng Y, Mei L, Sun J, Wang X, Wang J, Hu Z, Dong Y, Chen H, He C, Liu Y, Cai X, Liu X, Jiang L. Niu Z, et al. PLoS One. 2017 May 25;12(5):e0178384. doi: 10.1371/journal.pone.0178384. eCollection 2017. PLoS One. 2017. PMID: 28542515 Free PMC article.

3

A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

Deng Y, Niu Z, Fan L, Ling J, Chen H, Cai X, Mei L, He C, Zhang X, Wen J, Li M, Li W, Li T, Sang S, Liu Y, Feng Y. Deng Y, et al. J Hum Genet. 2018 Jun;63(6):723-730. doi: 10.1038/s10038-018-0443-x. Epub 2018 Mar 20. J Hum Genet. 2018. PMID: 29559740

4

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss.

Niu Z, Yan D, Bressler S, Mei L, Feng Y, Liu X. Niu Z, et al. Int J Pediatr Otorhinolaryngol. 2018 Jan;104:47-50. doi: 10.1016/j.ijporl.2017.10.040. Epub 2017 Nov 2. Int J Pediatr Otorhinolaryngol. 2018. PMID: 29287879

5

A novel missense mutation in SMPX causes a rare form of X-linked postlingual sensorineural hearing loss in a Chinese family.

Guo Y, Hao Y, Zhang D, Xu H, Yu D, Lv J, Fu Z, Han S, Guo F, Bai J, Guan G. Guo Y, et al. Transl Pediatr. 2021 Feb;10(2):378-387. doi: 10.21037/tp-20-435. Transl Pediatr. 2021. PMID: 33708524 Free PMC article.

6

Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.

Lv Y, Gu J, Qiu H, Li H, Zhang Z, Yin S, Mao Y, Kong L, Liang B, Jiang H, Liu C. Lv Y, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e967. doi: 10.1002/mgg3.967. Epub 2019 Sep 3. Mol Genet Genomic Med. 2019. PMID: 31478598 Free PMC article.

7

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.

Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.

8

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Gao X, Huang SS, Yuan YY, Wang GJ, Xu JC, Ji YB, Han MY, Yu F, Kang DY, Lin X, Dai P. Gao X, et al. Am J Med Genet A. 2015 Oct;167A(10):2357-65. doi: 10.1002/ajmg.a.37206. Epub 2015 Jun 16. Am J Med Genet A. 2015. PMID: 26079994 Free PMC article.

9

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Schraders M, et al. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549342 Free PMC article.

10

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.

Wang M, Zhou Y, Zhang F, Fan Z, Bai X, Wang H. Wang M, et al. BMC Med Genet. 2020 Jul 25;21(1):154. doi: 10.1186/s12881-020-01086-y. BMC Med Genet. 2020. PMID: 32711451 Free PMC article.

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