PubMed for id: 343997

Year	Number of Results
2004	1
2005	1
2006	2
2007	2
2010	1
2011	3
2015	1
2016	4
2017	1
2018	3
2019	1
2021	1
2022	1
2024	0

1

Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.

Acharya A, Schrauwen I, Leal SM. Acharya A, et al. Hum Genet. 2022 Apr;141(3-4):413-430. doi: 10.1007/s00439-021-02309-9. Epub 2021 Jul 22. Hum Genet. 2022. PMID: 34291353 Free PMC article. Review.

2

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. Mehregan H, et al. Arch Iran Med. 2019 Apr 1;22(4):189-197. Arch Iran Med. 2019. PMID: 31126177

3

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Liaqat K, et al. J Hum Genet. 2018 Nov;63(11):1099-1107. doi: 10.1038/s10038-018-0502-3. Epub 2018 Sep 3. J Hum Genet. 2018. PMID: 30177809 Free PMC article.

4

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.

Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M. Bademci G, et al. Hum Genet. 2018 Jul;137(6-7):479-486. doi: 10.1007/s00439-018-1901-4. Epub 2018 Jul 7. Hum Genet. 2018. PMID: 29982980 Free PMC article.

5

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y. Sun T, et al. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. Invest Ophthalmol Vis Sci. 2018. PMID: 29625443

6

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P. Gao X, et al. Neural Plast. 2017;2017:3192090. doi: 10.1155/2017/3192090. Epub 2017 Jun 13. Neural Plast. 2017. PMID: 28695016 Free PMC article.

7

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. Rehman AU, et al. Hum Mutat. 2016 Oct;37(10):991-1003. doi: 10.1002/humu.23042. Epub 2016 Aug 21. Hum Mutat. 2016. PMID: 27375115 Free PMC article.

8

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. Marková S, et al. Int J Pediatr Otorhinolaryngol. 2016 Jul;86:27-33. doi: 10.1016/j.ijporl.2016.04.005. Epub 2016 Apr 7. Int J Pediatr Otorhinolaryngol. 2016. PMID: 27260575

9

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A. Bakhchane A, et al. Eur J Med Genet. 2016 Jun;59(6-7):325-9. doi: 10.1016/j.ejmg.2016.05.002. Epub 2016 May 8. Eur J Med Genet. 2016. PMID: 27169813

10

Novel function of LHFPL2 in female and male distal reproductive tract development.

Zhao F, Zhou J, Li R, Dudley EA, Ye X. Zhao F, et al. Sci Rep. 2016 Mar 11;6:23037. doi: 10.1038/srep23037. Sci Rep. 2016. PMID: 26964900 Free PMC article.

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