265 related articles for article (PubMed ID: 29961073)
21. Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ; Whelan L; Zhu J; Dockery A; Wynne NC; Cairns RM; Kirk C; Turner J; Duignan ES; O'Byrne JJ; Silvestri G; Kenna PF; Farrar GJ; Keegan DJ
Invest Ophthalmol Vis Sci; 2023 Jul; 64(10):23. PubMed ID: 37466950
[TBL] [Abstract][Full Text] [Related]
22. Deafness and retinal degeneration in a novel USH1C knock-in mouse model.
Lentz JJ; Gordon WC; Farris HE; MacDonald GH; Cunningham DE; Robbins CA; Tempel BL; Bazan NG; Rubel EW; Oesterle EC; Keats BJ
Dev Neurobiol; 2010 Mar; 70(4):253-67. PubMed ID: 20095043
[TBL] [Abstract][Full Text] [Related]
23. Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
Abu-Diab A; Gopalakrishnan P; Matsevich C; de Jong M; Obolensky A; Khalaileh A; Salameh M; Ejzenberg A; Gross M; Banin E; Sharon D; Khateb S
Transl Vis Sci Technol; 2023 Mar; 12(3):3. PubMed ID: 36857066
[TBL] [Abstract][Full Text] [Related]
24. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.
Reiners J; van Wijk E; Märker T; Zimmermann U; Jürgens K; te Brinke H; Overlack N; Roepman R; Knipper M; Kremer H; Wolfrum U
Hum Mol Genet; 2005 Dec; 14(24):3933-43. PubMed ID: 16301216
[TBL] [Abstract][Full Text] [Related]
25. Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.
Mathur PD; Yang J
Hear Res; 2019 Apr; 375():14-24. PubMed ID: 30831381
[TBL] [Abstract][Full Text] [Related]
26. Usher proteins in inner ear structure and function.
Ahmed ZM; Frolenkov GI; Riazuddin S
Physiol Genomics; 2013 Nov; 45(21):987-9. PubMed ID: 24022220
[TBL] [Abstract][Full Text] [Related]
27. The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.
El-Amraoui A; Petit C
C R Biol; 2014 Mar; 337(3):167-77. PubMed ID: 24702843
[TBL] [Abstract][Full Text] [Related]
28. Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Aparisi MJ; Aller E; Fuster-García C; García-García G; Rodrigo R; Vázquez-Manrique RP; Blanco-Kelly F; Ayuso C; Roux AF; Jaijo T; Millán JM
Orphanet J Rare Dis; 2014 Nov; 9():168. PubMed ID: 25404053
[TBL] [Abstract][Full Text] [Related]
29. Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa.
Chen N; Lee H; Kim AH; Liu PK; Kang EY; Tseng YJ; Seo GH; Khang R; Liu L; Chen KJ; Wu WC; Hsiao MC; Wang NK
BMC Ophthalmol; 2022 Nov; 22(1):441. PubMed ID: 36384460
[TBL] [Abstract][Full Text] [Related]
30. Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M; Francis A; Ng ZY; Khoh XE; Atlas MD; Dilley RJ; Wong EYM
Front Genet; 2020; 11():565216. PubMed ID: 33193648
[TBL] [Abstract][Full Text] [Related]
31. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.
Zou J; Zheng T; Ren C; Askew C; Liu XP; Pan B; Holt JR; Wang Y; Yang J
Hum Mol Genet; 2014 May; 23(9):2374-90. PubMed ID: 24334608
[TBL] [Abstract][Full Text] [Related]
32. RNA-Seq Analysis Reveals an Essential Role of the cGMP-PKG-MAPK Pathways in Retinal Degeneration Caused by Cep250 Deficiency.
Chen C; Rong Y; Zhuang Y; Tang C; Liu Q; Lin P; Li D; Zhao X; Lu F; Qu J; Liu X
Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240188
[TBL] [Abstract][Full Text] [Related]
33. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.
Adato A; Lefèvre G; Delprat B; Michel V; Michalski N; Chardenoux S; Weil D; El-Amraoui A; Petit C
Hum Mol Genet; 2005 Dec; 14(24):3921-32. PubMed ID: 16301217
[TBL] [Abstract][Full Text] [Related]
34. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.
Pater JA; Green J; O'Rielly DD; Griffin A; Squires J; Burt T; Fernandez S; Fernandez B; Houston J; Zhou J; Roslin NM; Young TL
BMC Med Genet; 2019 May; 20(1):68. PubMed ID: 31046701
[TBL] [Abstract][Full Text] [Related]
35. Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M; Slijkerman R; Lerner K; Broekman S; Wegner J; Howat T; Peters T; Hetterschijt L; Boon N; de Vrieze E; Sorusch N; Wolfrum U; Kremer H; Neuhauss S; Zang J; Kamermans M; Westerfield M; Phillips J; van Wijk E
Exp Eye Res; 2018 Aug; 173():148-159. PubMed ID: 29777677
[TBL] [Abstract][Full Text] [Related]
36. Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.
Reddy R; Fahiminiya S; El Zir E; Mansour A; Megarbane A; Majewski J; Slim R
PLoS One; 2014; 9(9):e107326. PubMed ID: 25211151
[TBL] [Abstract][Full Text] [Related]
37. Genetics and pathological mechanisms of Usher syndrome.
Yan D; Liu XZ
J Hum Genet; 2010 Jun; 55(6):327-35. PubMed ID: 20379205
[TBL] [Abstract][Full Text] [Related]
38. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
Hilgert N; Kahrizi K; Dieltjens N; Bazazzadegan N; Najmabadi H; Smith RJ; Van Camp G
J Med Genet; 2009 Apr; 46(4):272-6. PubMed ID: 19357116
[TBL] [Abstract][Full Text] [Related]
39. [The Usher Syndrome, a Human Ciliopathy].
Wolfrum U; Nagel-Wolfrum K
Klin Monbl Augenheilkd; 2018 Mar; 235(3):273-280. PubMed ID: 29534264
[TBL] [Abstract][Full Text] [Related]
40. Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
Kooshavar D; Razipour M; Movasat M; Keramatipour M
Int J Pediatr Otorhinolaryngol; 2018 Jan; 104():10-13. PubMed ID: 29287847
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
