1143 related articles for article (PubMed ID: 28761320)
1. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
[TBL] [Abstract][Full Text] [Related]
2. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Yang P; Chiang PW; Weleber RG; Pennesi ME
JAMA Ophthalmol; 2015 Jun; 133(6):653-61. PubMed ID: 25789692
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B; Li J; Fernandez-San Jose P; Liu Y; March M; Pellegrino R; Golhar R; Corton M; Blanco-Kelly F; López-Molina MI; García-Sandoval B; Guo Y; Tian L; Liu X; Guan L; Zhang J; Keating B; Xu X; Hakonarson H; Ayuso C
PLoS One; 2015; 10(7):e0133624. PubMed ID: 26197217
[TBL] [Abstract][Full Text] [Related]
6. Incomplete penetrance of
Chapi M; Sabbaghi H; Suri F; Alehabib E; Rahimi-Aliabadi S; Jamali F; Jamshidi J; Emamalizadeh B; Darvish H; Mirrahimi M; Ahmadieh H; Daftarian N
Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
[No Abstract] [Full Text] [Related]
7. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Conti GM; Vaclavik V; Rivolta C; Escher P; Schorderet DF; Munier FL; Tran HV
Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664
[TBL] [Abstract][Full Text] [Related]
8. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
[TBL] [Abstract][Full Text] [Related]
9. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
Kitiratschky VB; Nagy D; Zabel T; Zrenner E; Wissinger B; Kohl S; Jägle H
Br J Ophthalmol; 2008 Aug; 92(8):1086-91. PubMed ID: 18653602
[TBL] [Abstract][Full Text] [Related]
10. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
Lines MA; Hébert M; McTaggart KE; Flynn SJ; Tennant MT; MacDonald IM
Ophthalmology; 2002 Oct; 109(10):1862-70. PubMed ID: 12359607
[TBL] [Abstract][Full Text] [Related]
11. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Poloschek CM; Bach M; Lagrèze WA; Glaus E; Lemke JR; Berger W; Neidhardt J
Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4253-65. PubMed ID: 20335603
[TBL] [Abstract][Full Text] [Related]
12. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Maubaret CG; Vaclavik V; Mukhopadhyay R; Waseem NH; Churchill A; Holder GE; Moore AT; Bhattacharya SS; Webster AR
Invest Ophthalmol Vis Sci; 2011 Dec; 52(13):9304-9. PubMed ID: 22039234
[TBL] [Abstract][Full Text] [Related]
13. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
Perez-Carro R; Corton M; Sánchez-Navarro I; Zurita O; Sanchez-Bolivar N; Sánchez-Alcudia R; Lelieveld SH; Aller E; Lopez-Martinez MA; López-Molina MI; Fernandez-San Jose P; Blanco-Kelly F; Riveiro-Alvarez R; Gilissen C; Millan JM; Avila-Fernandez A; Ayuso C
Sci Rep; 2016 Jan; 6():19531. PubMed ID: 26806561
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
[TBL] [Abstract][Full Text] [Related]
15. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
Zhu X; Li X; Tian W; Yang Y; Sun K; Li S; Zhu X
Mol Med Rep; 2020 Jul; 22(1):193-200. PubMed ID: 32319668
[TBL] [Abstract][Full Text] [Related]
16. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G
BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902
[TBL] [Abstract][Full Text] [Related]
17. Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing.
Xiao J; Guo X; Wang Y; Shao M; Wei X; Du L; Li L; Sun Y; Yang Y
Eur J Ophthalmol; 2017 Nov; 27(6):791-796. PubMed ID: 28430325
[TBL] [Abstract][Full Text] [Related]
18. Expanding the retinal phenotype of
Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E
Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053
[TBL] [Abstract][Full Text] [Related]
19.
Daftarian N; Mirrahimi M; Sabbaghi H; Moghadasi A; Zal N; Dehghan Banadaki H; Ahmadieh H; Suri F
Ophthalmic Genet; 2019 Oct; 40(5):436-442. PubMed ID: 31618092
[No Abstract] [Full Text] [Related]
20. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
Méndez-Vidal C; González-Del Pozo M; Vela-Boza A; Santoyo-López J; López-Domingo FJ; Vázquez-Marouschek C; Dopazo J; Borrego S; Antiñolo G
Mol Vis; 2013; 19():2187-95. PubMed ID: 24227914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]