326 related articles for article (PubMed ID: 28944237)
1. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and
Neuhaus C; Eisenberger T; Decker C; Nagl S; Blank C; Pfister M; Kennerknecht I; Müller-Hofstede C; Charbel Issa P; Heller R; Beck B; Rüther K; Mitter D; Rohrschneider K; Steinhauer U; Korbmacher HM; Huhle D; Elsayed SM; Taha HM; Baig SM; Stöhr H; Preising M; Markus S; Moeller F; Lorenz B; Nagel-Wolfrum K; Khan AO; Bolz HJ
Mol Genet Genomic Med; 2017 Sep; 5(5):531-552. PubMed ID: 28944237
[TBL] [Abstract][Full Text] [Related]
2. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Usher syndrome in Denmark: mutation spectrum and some clinical observations.
Dad S; Rendtorff ND; Tranebjærg L; Grønskov K; Karstensen HG; Brox V; Nilssen Ø; Roux AF; Rosenberg T; Jensen H; Møller LB
Mol Genet Genomic Med; 2016 Sep; 4(5):527-539. PubMed ID: 27957503
[TBL] [Abstract][Full Text] [Related]
5. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache LH; Hartel BP; van Wijk E; Meester-Smoor MA; Cremers FP; de Baere E; de Zaeytijd J; van Schooneveld MJ; Cremers CW; Dagnelie G; Hoyng CB; Bergen AA; Leroy BP; Pennings RJ; van den Born LI; Klaver CC
Ophthalmology; 2016 May; 123(5):1151-60. PubMed ID: 26927203
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C; Griffoin JM; Arnaud B; Hamel C
Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
[TBL] [Abstract][Full Text] [Related]
7. Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S; Rendtorff ND; Kann E; Albrechtsen A; Mehrjouy MM; Bak M; Tommerup N; Tranebjærg L; Rosenberg T; Jensen H; Møller LB
Eur J Hum Genet; 2015 Dec; 23(12):1646-51. PubMed ID: 25804404
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
Kaiserman N; Obolensky A; Banin E; Sharon D
Arch Ophthalmol; 2007 Feb; 125(2):219-24. PubMed ID: 17296898
[TBL] [Abstract][Full Text] [Related]
10. Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.
Eandi CM; Dallorto L; Spinetta R; Micieli MP; Vanzetti M; Mariottini A; Passerini I; Torricelli F; Alovisi C; Marchese C
Sci Rep; 2017 Nov; 7(1):15681. PubMed ID: 29142287
[TBL] [Abstract][Full Text] [Related]
11. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M; Oishi A; Gotoh N; Ogino K; Higasa K; Iida K; Makiyama Y; Morooka S; Matsuda F; Yoshimura N
Invest Ophthalmol Vis Sci; 2014 Oct; 55(11):7369-75. PubMed ID: 25324289
[TBL] [Abstract][Full Text] [Related]
12. Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.
Li X; Huang S; Yuan Y; Lu Y; Zhang D; Wang X; Yuan H; Han W; Dai P
Acta Otolaryngol; 2019 Jun; 139(6):479-486. PubMed ID: 31035849
[TBL] [Abstract][Full Text] [Related]
13. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Nájera C; Beneyto M; Blanca J; Aller E; Fontcuberta A; Millán JM; Ayuso C
Hum Mutat; 2002 Jul; 20(1):76-7. PubMed ID: 12112664
[TBL] [Abstract][Full Text] [Related]
14. An update on the genetics of usher syndrome.
Millán JM; Aller E; Jaijo T; Blanco-Kelly F; Gimenez-Pardo A; Ayuso C
J Ophthalmol; 2011; 2011():417217. PubMed ID: 21234346
[TBL] [Abstract][Full Text] [Related]
15. Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Jouret G; Poirsier C; Spodenkiewicz M; Jaquin C; Gouy E; Arndt C; Labrousse M; Gaillard D; Doco-Fenzy M; Lebre AS
Otol Neurotol; 2019 Jan; 40(1):121-129. PubMed ID: 30531642
[TBL] [Abstract][Full Text] [Related]
16. The usher syndromes.
Keats BJ; Corey DP
Am J Med Genet; 1999 Sep; 89(3):158-66. PubMed ID: 10704190
[TBL] [Abstract][Full Text] [Related]
17. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C; Riahi Z; Chantot-Bastaraud S; Smagghe L; Letexier M; Marcaillou C; Lefèvre GM; Hardelin JP; El-Amraoui A; Singh-Estivalet A; Mohand-Saïd S; Kohl S; Kurtenbach A; Sliesoraityte I; Zobor D; Gherbi S; Testa F; Simonelli F; Banfi S; Fakin A; Glavač D; Jarc-Vidmar M; Zupan A; Battelino S; Martorell Sampol L; Claveria MA; Catala Mora J; Dad S; Møller LB; Rodriguez Jorge J; Hawlina M; Auricchio A; Sahel JA; Marlin S; Zrenner E; Audo I; Petit C
Eur J Hum Genet; 2016 Dec; 24(12):1730-1738. PubMed ID: 27460420
[TBL] [Abstract][Full Text] [Related]
18. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
Beneyto MM; Cuevas JM; Millán JM; Espinós C; Mateu E; González-Cabo P; Baiget M; Doménech M; Bernal S; Ayuso C; García-Sandoval B; Trujillo MJ; Borrego S; Antiñolo G; Carballo M; Nájera C
Ophthalmic Genet; 2000 Jun; 21(2):123-8. PubMed ID: 10916187
[TBL] [Abstract][Full Text] [Related]
19. Identification of a novel MYO7A mutation in Usher syndrome type 1.
Cheng L; Yu H; Jiang Y; He J; Pu S; Li X; Zhang L
Oncotarget; 2018 Jan; 9(2):2295-2303. PubMed ID: 29416772
[TBL] [Abstract][Full Text] [Related]
20. Genetic screening of Russian Usher syndrome patients toward selection for gene therapy.
Ivanova ME; Trubilin VN; Atarshchikov DS; Demchinsky AM; Strelnikov VV; Tanas AS; Orlova OM; Machalov AS; Overchenko KV; Markova TV; Golenkova DM; Anoshkin KI; Volodin IV; Zaletaev DV; Pulin AA; Nadelyaeva II; Kalinkin AI; Barh D
Ophthalmic Genet; 2018 Dec; 39(6):706-713. PubMed ID: 30358468
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]