519 related articles for article (PubMed ID: 26103963)
1. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Souied E; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
Orphanet J Rare Dis; 2015 Jun; 10():85. PubMed ID: 26103963
[TBL] [Abstract][Full Text] [Related]
2. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
[TBL] [Abstract][Full Text] [Related]
3. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.
Audo I; Mohand-Saïd S; Dhaenens CM; Germain A; Orhan E; Antonio A; Hamel C; Sahel JA; Bhattacharya SS; Zeitz C
Hum Mutat; 2012 Jan; 33(1):73-80. PubMed ID: 22052604
[TBL] [Abstract][Full Text] [Related]
4. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
[TBL] [Abstract][Full Text] [Related]
5. Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.
Fernandez-San Jose P; Corton M; Blanco-Kelly F; Avila-Fernandez A; Lopez-Martinez MA; Sanchez-Navarro I; Sanchez-Alcudia R; Perez-Carro R; Zurita O; Sanchez-Bolivar N; Lopez-Molina MI; Garcia-Sandoval B; Riveiro-Alvarez R; Ayuso C
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2173-82. PubMed ID: 25698705
[TBL] [Abstract][Full Text] [Related]
6. Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
El Shamieh S; Boulanger-Scemama E; Lancelot ME; Antonio A; Démontant V; Condroyer C; Letexier M; Saraiva JP; Mohand-Saïd S; Sahel JA; Audo I; Zeitz C
Biomed Res Int; 2015; 2015():485624. PubMed ID: 25692139
[TBL] [Abstract][Full Text] [Related]
7. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A; Skorczyk-Werner A; Wicher K; Niedziela Z; Ploski R; Rydzanicz M; Sykulski M; Kociecki J; Weisschuh N; Kohl S; Biskup S; Wissinger B; Krawczynski MR
Mol Vis; 2018; 24():326-339. PubMed ID: 29769798
[TBL] [Abstract][Full Text] [Related]
8. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
Smith M; Whittock N; Searle A; Croft M; Brewer C; Cole M
Eye (Lond); 2007 Sep; 21(9):1220-5. PubMed ID: 17041576
[TBL] [Abstract][Full Text] [Related]
9. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E; Mohand-Saïd S; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Sahel JA; Zeitz C; Audo I
Int J Mol Sci; 2019 Sep; 20(19):. PubMed ID: 31574917
[TBL] [Abstract][Full Text] [Related]
10. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of
Sung YC; Yang CH; Yang CM; Lin CW; Huang DS; Huang YS; Hu FR; Chen PL; Chen TC
Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261146
[TBL] [Abstract][Full Text] [Related]
11. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
[TBL] [Abstract][Full Text] [Related]
12. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C; Laurent-Coriat C; Mayer C; Poch O; Mohand-Saïd S; Prévot C; Antonio A; Boyard F; Condroyer C; Michiels C; Blanchard S; Letexier M; Saraiva JP; Sahel JA; Audo I; Zeitz C
PLoS One; 2016; 11(12):e0168271. PubMed ID: 27977773
[TBL] [Abstract][Full Text] [Related]
13. GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Jiang F; Xu K; Zhang X; Xie Y; Bai F; Li Y
Doc Ophthalmol; 2015 Oct; 131(2):105-14. PubMed ID: 26298565
[TBL] [Abstract][Full Text] [Related]
14. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C
JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216
[TBL] [Abstract][Full Text] [Related]
15. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
Birtel J; Gliem M; Mangold E; Müller PL; Holz FG; Neuhaus C; Lenzner S; Zahnleiter D; Betz C; Eisenberger T; Bolz HJ; Charbel Issa P
PLoS One; 2018; 13(12):e0207958. PubMed ID: 30543658
[TBL] [Abstract][Full Text] [Related]
16. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Audo I; Bujakowska K; Mohand-Saïd S; Lancelot ME; Moskova-Doumanova V; Waseem NH; Antonio A; Sahel JA; Bhattacharya SS; Zeitz C
BMC Med Genet; 2010 Oct; 11():145. PubMed ID: 20939871
[TBL] [Abstract][Full Text] [Related]
17. ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB; Grau T; Bernd A; Zrenner E; Jägle H; Renner AB; Kellner U; Rudolph G; Jacobson SG; Cideciyan AV; Schaich S; Kohl S; Wissinger B
Eur J Hum Genet; 2008 Jul; 16(7):812-9. PubMed ID: 18285826
[TBL] [Abstract][Full Text] [Related]
18. CDHR1 mutations in retinal dystrophies.
Stingl K; Mayer AK; Llavona P; Mulahasanovic L; Rudolph G; Jacobson SG; Zrenner E; Kohl S; Wissinger B; Weisschuh N
Sci Rep; 2017 Aug; 7(1):6992. PubMed ID: 28765526
[TBL] [Abstract][Full Text] [Related]
19. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C; Navarro J; Azizzadeh Pormehr L; Méjécase C; Neves LM; Letellier C; Condroyer C; Albadri S; Amprou A; Antonio A; Ben-Yacoub T; Wohlschlegel J; Andrieu C; Serafini M; Bianco L; Antropoli A; Nassisi M; El Shamieh S; Chantot-Bastaraud S; Mohand-Saïd S; Smirnov V; Sahel JA; Del Bene F; Audo I
Genet Med; 2024 Jun; 26(6):101081. PubMed ID: 38293907
[TBL] [Abstract][Full Text] [Related]
20. Cone rod dystrophies.
Hamel CP
Orphanet J Rare Dis; 2007 Feb; 2():7. PubMed ID: 17270046
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
