PubMed (GeneRIF) for id: 222662

Year	Number of Results
2005	1
2006	1
2008	1
2011	1
2015	1
2016	2
2018	3
2019	3
2020	1
2024	0

1

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. Yu X, et al. Proc Natl Acad Sci U S A. 2020 Nov 24;117(47):29894-29903. doi: 10.1073/pnas.2011147117. Epub 2020 Nov 9. Proc Natl Acad Sci U S A. 2020. PMID: 33168709 Free PMC article.

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

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Al-Amri AH, Al Saegh A, Al-Mamari W, El-Asrag ME, Al-Kindi MN, Al Khabouri M, Al Wardy N, Al Lamki K, Gabr A, Idris A, Inglehearn CF, Clapcote SJ, Ali M. Al-Amri AH, et al. Eur J Med Genet. 2019 Dec;62(12):103592. doi: 10.1016/j.ejmg.2018.11.026. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476627

4

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. Lerat J, et al. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622

5

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.

6

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.

7

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Komara M, John A, Suleiman J, Ali BR, Al-Gazali L. Komara M, et al. Am J Med Genet A. 2016 Feb;170A(2):540-543. doi: 10.1002/ajmg.a.37421. Epub 2015 Oct 5. Am J Med Genet A. 2016. PMID: 26437881 No abstract available.

8

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S. Bensaïd M, et al. Eur J Med Genet. 2011 Nov-Dec;54(6):e565-9. doi: 10.1016/j.ejmg.2011.07.003. Epub 2011 Jul 26. Eur J Med Genet. 2011. PMID: 21816241

9

Unique transgenic animal model for hereditary hearing loss.

Cosetti M, Culang D, Kotla S, O'Brien P, Eberl DF, Hannan F. Cosetti M, et al. Ann Otol Rhinol Laryngol. 2008 Nov;117(11):827-33. doi: 10.1177/000348940811701106. Ann Otol Rhinol Laryngol. 2008. PMID: 19102128 Free PMC article.

10

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S. Shabbir MI, et al. J Med Genet. 2006 Aug;43(8):634-40. doi: 10.1136/jmg.2005.039834. Epub 2006 Feb 3. J Med Genet. 2006. PMID: 16459341 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

11 results

Results by year