135 related articles for article (PubMed ID: 25743179)
1. Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
Yoshimura H; Oshikawa C; Nakayama J; Moteki H; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():94S-9S. PubMed ID: 25743179
[TBL] [Abstract][Full Text] [Related]
2. The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.
Khalaileh A; Abu-Diab A; Ben-Yosef T; Raas-Rothschild A; Lerer I; Alswaiti Y; Chowers I; Banin E; Sharon D; Khateb S
Invest Ophthalmol Vis Sci; 2018 Feb; 59(2):1095-1104. PubMed ID: 29490346
[TBL] [Abstract][Full Text] [Related]
3. Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.
García-García G; Aparisi MJ; Rodrigo R; Sequedo MD; Espinós C; Rosell J; Olea JL; Mendívil MP; Ramos-Arroyo MA; Ayuso C; Jaijo T; Aller E; Millán JM
Mol Vis; 2012; 18():3070-8. PubMed ID: 23304067
[TBL] [Abstract][Full Text] [Related]
4. Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane.
Isosomppi J; Västinsalo H; Geller SF; Heon E; Flannery JG; Sankila EM
Mol Vis; 2009 Sep; 15():1806-18. PubMed ID: 19753315
[TBL] [Abstract][Full Text] [Related]
5. Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H; Jalkanen R; Bergmann C; Neuhaus C; Kleemola L; Jauhola L; Bolz HJ; Sankila EM
Acta Ophthalmol; 2013 Jun; 91(4):325-34. PubMed ID: 22681893
[TBL] [Abstract][Full Text] [Related]
6. Zebrafish Models for the Mechanosensory Hair Cell Dysfunction in Usher Syndrome 3 Reveal That Clarin-1 Is an Essential Hair Bundle Protein.
Gopal SR; Chen DH; Chou SW; Zang J; Neuhauss SC; Stepanyan R; McDermott BM; Alagramam KN
J Neurosci; 2015 Jul; 35(28):10188-201. PubMed ID: 26180195
[TBL] [Abstract][Full Text] [Related]
7. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
Yoshimura H; Iwasaki S; Nishio SY; Kumakawa K; Tono T; Kobayashi Y; Sato H; Nagai K; Ishikawa K; Ikezono T; Naito Y; Fukushima K; Oshikawa C; Kimitsuki T; Nakanishi H; Usami S
PLoS One; 2014; 9(3):e90688. PubMed ID: 24618850
[TBL] [Abstract][Full Text] [Related]
8. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms.
Moteki H; Yoshimura H; Azaiez H; Booth KT; Shearer AE; Sloan CM; Kolbe DL; Murata T; Smith RJ; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1(1 0):123S-8S. PubMed ID: 25743181
[TBL] [Abstract][Full Text] [Related]
9. High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Fuster-García C; García-García G; Jaijo T; Fornés N; Ayuso C; Fernández-Burriel M; Sánchez-De la Morena A; Aller E; Millán JM
Sci Rep; 2018 Nov; 8(1):17113. PubMed ID: 30459346
[TBL] [Abstract][Full Text] [Related]
10. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.
Qu LH; Jin X; Xu HW; Li SY; Yin ZQ
Mol Genet Genomics; 2015 Feb; 290(1):353-63. PubMed ID: 25252889
[TBL] [Abstract][Full Text] [Related]
11. A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.
Khan AO; Becirovic E; Betz C; Neuhaus C; Altmüller J; Maria Riedmayr L; Motameny S; Nürnberg G; Nürnberg P; Bolz HJ
Sci Rep; 2017 May; 7(1):1411. PubMed ID: 28469144
[TBL] [Abstract][Full Text] [Related]
12. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
[TBL] [Abstract][Full Text] [Related]
13. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C; Grati M; Marlin S; Levilliers J; Hardelin JP; Parodi M; Niasme-Grare M; Zelenika D; Délépine M; Feldmann D; Jonard L; El-Amraoui A; Weil D; Delobel B; Vincent C; Dollfus H; Eliot MM; David A; Calais C; Vigneron J; Montaut-Verient B; Bonneau D; Dubin J; Thauvin C; Duvillard A; Francannet C; Mom T; Lacombe D; Duriez F; Drouin-Garraud V; Thuillier-Obstoy MF; Sigaudy S; Frances AM; Collignon P; Challe G; Couderc R; Lathrop M; Sahel JA; Weissenbach J; Petit C; Denoyelle F
Orphanet J Rare Dis; 2011 May; 6():21. PubMed ID: 21569298
[TBL] [Abstract][Full Text] [Related]
14. A small molecule mitigates hearing loss in a mouse model of Usher syndrome III.
Alagramam KN; Gopal SR; Geng R; Chen DH; Nemet I; Lee R; Tian G; Miyagi M; Malagu KF; Lock CJ; Esmieu WR; Owens AP; Lindsay NA; Ouwehand K; Albertus F; Fischer DF; Bürli RW; MacLeod AM; Harte WE; Palczewski K; Imanishi Y
Nat Chem Biol; 2016 Jun; 12(6):444-51. PubMed ID: 27110679
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Jiang L; Liang X; Li Y; Wang J; Zaneveld JE; Wang H; Xu S; Wang K; Wang B; Chen R; Sui R
Orphanet J Rare Dis; 2015 Sep; 10():110. PubMed ID: 26338283
[TBL] [Abstract][Full Text] [Related]
16. Cone structure in patients with usher syndrome type III and mutations in the Clarin 1 gene.
Ratnam K; Västinsalo H; Roorda A; Sankila EM; Duncan JL
JAMA Ophthalmol; 2013 Jan; 131(1):67-74. PubMed ID: 22964989
[TBL] [Abstract][Full Text] [Related]
17. Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.
Fu J; Cheng J; Zhou Q; Khan MA; Duan C; Peng J; Lv H; Fu J
Mol Med Rep; 2020 Oct; 22(4):3464-3472. PubMed ID: 32945453
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S; El-Amraoui A
Hum Genet; 2022 Apr; 141(3-4):709-735. PubMed ID: 35353227
[TBL] [Abstract][Full Text] [Related]
20. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.
Eisenberger T; Slim R; Mansour A; Nauck M; Nürnberg G; Nürnberg P; Decker C; Dafinger C; Ebermann I; Bergmann C; Bolz HJ
Orphanet J Rare Dis; 2012 Sep; 7():59. PubMed ID: 22938382
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]