168 related articles for article (PubMed ID: 35033039)
1. 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]
2. 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]
3. 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]
4. Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
Zhang S; Li J; Li S; Yang Y; Yang M; Yang Z; Zhu X; Zhang L
Ophthalmic Genet; 2018 Aug; 39(4):487-491. PubMed ID: 29693493
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
Cui Y; Zhao KX; Wang L; Wang Q; Zhang W; Chen WY; Wang LM
Zhonghua Yan Ke Za Zhi; 2003 Jan; 39(1):28-32. PubMed ID: 12760810
[TBL] [Abstract][Full Text] [Related]
8. A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
Ullah M; Rehman AU; Folcher M; Ullah A; Usman F; Rashid A; Khan B; Quinodoz M; Ansar M; Rivolta C
Ophthalmic Res; 2023; 66(1):878-884. PubMed ID: 37094557
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Sothilingam V; Garcia Garrido M; Jiao K; Buena-Atienza E; Sahaboglu A; Trifunović D; Balendran S; Koepfli T; Mühlfriedel R; Schön C; Biel M; Heckmann A; Beck SC; Michalakis S; Wissinger B; Seeliger MW; Paquet-Durand F
Hum Mol Genet; 2015 Oct; 24(19):5486-99. PubMed ID: 26188004
[TBL] [Abstract][Full Text] [Related]
13. P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.
Khan AA; Waryah YM; Iqbal M; Azhar Baig HM; Rafique M; Waryah AM
J Pak Med Assoc; 2021 Mar; 71(3):816-821. PubMed ID: 34057927
[TBL] [Abstract][Full Text] [Related]
14. Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Kuehlewein L; Straßer T; Blumenstock G; Stingl K; Fischer MD; Wilhelm B; Zrenner E; Wissinger B; Kohl S; Weisschuh N; Zobor D;
Invest Ophthalmol Vis Sci; 2022 May; 63(5):9. PubMed ID: 35533076
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Screening gene mutations of the beta subunit of phosphodiesterase in the Chinese retinitis pigmentosa patients].
Cui Y; Wang L; Zhao KX; Wang Q; Chen WY; Wang LM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Jun; 20(3):200-2. PubMed ID: 12778443
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers.
Chen X; Sheng X; Liu G; Liu Y; Li H; Xie P; Liu Q; Yan B; Zhao C
Curr Mol Med; 2018; 18(5):306-311. PubMed ID: 30289068
[TBL] [Abstract][Full Text] [Related]
19. Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa.
Takahashi VKL; Takiuti JT; Jauregui R; Lima LH; Tsang SH
Ophthalmic Genet; 2018 Oct; 39(5):610-614. PubMed ID: 30153077
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]