195 related articles for article (PubMed ID: 18723146)
1. A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH; Tsui I; Chou CL; Zernant J; Haamer E; Iranmanesh R; Tosi J; Allikmets R
Am J Ophthalmol; 2008 Nov; 146(5):780-8. PubMed ID: 18723146
[TBL] [Abstract][Full Text] [Related]
2. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P
Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873
[TBL] [Abstract][Full Text] [Related]
3. Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
Kim C; Kim KJ; Bok J; Lee EJ; Kim DJ; Oh JH; Park SP; Shin JY; Lee JY; Yu HG
Mol Vis; 2012; 18():2398-410. PubMed ID: 23049240
[TBL] [Abstract][Full Text] [Related]
4. Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
Shen S; Sujirakul T; Tsang SH
Ophthalmic Genet; 2014 Sep; 35(3):142-50. PubMed ID: 24828262
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A; Charif M; Bouzidi A; Amalou G; Kandil M; Barakat A; Lenaers G
Mol Vis; 2021; 27():17-25. PubMed ID: 33633436
[TBL] [Abstract][Full Text] [Related]
6. Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L; Zobor D; Andreasson SO; Ayuso C; Banfi S; Bocquet B; Bernd AS; Biskup S; Boon CJF; Downes SM; Fischer MD; Holz FG; Kellner U; Leroy BP; Meunier I; Nasser F; Rosenberg T; Rudolph G; Stingl K; Thiadens AAHJ; Wilhelm B; Wissinger B; Zrenner E; Kohl S; Weisschuh N;
JAMA Ophthalmol; 2020 Dec; 138(12):1241-1250. PubMed ID: 33057649
[TBL] [Abstract][Full Text] [Related]
7. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA
Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
[TBL] [Abstract][Full Text] [Related]
8. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
9. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
Aziz N; Ullah M; Rashid A; Hussain Z; Shah K; Awan A; Khan M; Ullah I; Rehman AU
BMC Ophthalmol; 2023 Mar; 23(1):116. PubMed ID: 36959549
[TBL] [Abstract][Full Text] [Related]
10. Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
Dvir L; Srour G; Abu-Ras R; Miller B; Shalev SA; Ben-Yosef T
Am J Hum Genet; 2010 Aug; 87(2):258-64. PubMed ID: 20655036
[TBL] [Abstract][Full Text] [Related]
11. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S; Nassisi M; Bujakowska KM; Méjécase C; Condroyer C; Antonio A; Foussard M; Démontant V; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
JAMA Ophthalmol; 2019 Jun; 137(6):669-679. PubMed ID: 30998820
[TBL] [Abstract][Full Text] [Related]
12. Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
Kurata K; Hosono K; Hotta Y
Doc Ophthalmol; 2018 Aug; 137(1):47-56. PubMed ID: 30027431
[TBL] [Abstract][Full Text] [Related]
13. Clinical Phenotype of
Kuehlewein L; Zobor D; Stingl K; Kempf M; Nasser F; Bernd A; Biskup S; Cremers FPM; Khan MI; Mazzola P; Schäferhoff K; Heinrich T; Haack TB; Wissinger B; Zrenner E; Weisschuh N; Kohl S
Int J Mol Sci; 2021 Feb; 22(5):. PubMed ID: 33673512
[TBL] [Abstract][Full Text] [Related]
14. Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.
Li Y; Li R; Dai H; Li G
BMC Ophthalmol; 2022 Jan; 22(1):27. PubMed ID: 35033039
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family.
Siemiatkowska AM; Astuti GD; Arimadyo K; den Hollander AI; Faradz SM; Cremers FP; Collin RW
Mol Vis; 2012; 18():2411-9. PubMed ID: 23077400
[TBL] [Abstract][Full Text] [Related]
17. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S
Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672
[TBL] [Abstract][Full Text] [Related]
18. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
Dryja TP; Rucinski DE; Chen SH; Berson EL
Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062
[TBL] [Abstract][Full Text] [Related]
19. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
[TBL] [Abstract][Full Text] [Related]
20. Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Kuniyoshi K; Sakuramoto H; Yoshitake K; Ikeo K; Furuno M; Tsunoda K; Kusaka S; Shimomura Y; Iwata T
Doc Ophthalmol; 2015 Aug; 131(1):71-9. PubMed ID: 25827439
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
