217 related articles for article (PubMed ID: 20673862)
1. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D; Collin RW; Banin E; van den Born LI; Coene KL; Siemiatkowska AM; Zelinger L; Khan MI; Lefeber DJ; Erdinest I; Testa F; Simonelli F; Voesenek K; Blokland EA; Strom TM; Klaver CC; Qamar R; Banfi S; Cremers FP; Sharon D; den Hollander AI
Am J Hum Genet; 2010 Aug; 87(2):199-208. PubMed ID: 20673862
[TBL] [Abstract][Full Text] [Related]
2. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
[TBL] [Abstract][Full Text] [Related]
3. A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.
Li L; Nakaya N; Chavali VR; Ma Z; Jiao X; Sieving PA; Riazuddin S; Tomarev SI; Ayyagari R; Riazuddin SA; Hejtmancik JF
Am J Hum Genet; 2010 Sep; 87(3):400-9. PubMed ID: 20797688
[TBL] [Abstract][Full Text] [Related]
4. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
Bandah-Rozenfeld D; Mizrahi-Meissonnier L; Farhy C; Obolensky A; Chowers I; Pe'er J; Merin S; Ben-Yosef T; Ashery-Padan R; Banin E; Sharon D
Am J Hum Genet; 2010 Sep; 87(3):382-91. PubMed ID: 20705279
[TBL] [Abstract][Full Text] [Related]
5. Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Khan MI; Collin RW; Arimadyo K; Micheal S; Azam M; Qureshi N; Faradz SM; den Hollander AI; Qamar R; Cremers FP
Mol Vis; 2010 Dec; 16():2753-9. PubMed ID: 21179430
[TBL] [Abstract][Full Text] [Related]
6. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
[TBL] [Abstract][Full Text] [Related]
7. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.
Zobor D; Balousha G; Baumann B; Wissinger B
Mol Vis; 2014; 20():178-82. PubMed ID: 24520187
[TBL] [Abstract][Full Text] [Related]
8. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Bocquet B; Marzouka NA; Hebrard M; Manes G; Sénéchal A; Meunier I; Hamel CP
Mol Vis; 2013; 19():2487-500. PubMed ID: 24339724
[TBL] [Abstract][Full Text] [Related]
9. Heterogeneity in the progression of retinal pathologies in mice harboring patient mimicking Impg2 mutations.
Williams BN; Draper A; Lang PF; Lewis TR; Smith AL; Mayerl SJ; Rougié M; Simon JM; Arshavsky VY; Greenwald SH; Gamm DM; Pinilla I; Philpot BD
Hum Mol Genet; 2024 Feb; 33(5):448-464. PubMed ID: 37975905
[TBL] [Abstract][Full Text] [Related]
10. Human retinal organoids harboring IMPG2 mutations exhibit a photoreceptor outer segment phenotype that models advanced retinitis pigmentosa.
Mayerl SJ; Bajgai S; Ludwig AL; Jager LD; Williams BN; Bacig C; Stoddard C; Sinha D; Philpot BD; Gamm DM
Stem Cell Reports; 2022 Nov; 17(11):2409-2420. PubMed ID: 36206764
[TBL] [Abstract][Full Text] [Related]
11. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.
Khateb S; Zelinger L; Ben-Yosef T; Merin S; Crystal-Shalit O; Gross M; Banin E; Sharon D
PLoS One; 2012; 7(12):e51566. PubMed ID: 23251578
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
Huang Y; Zhang J; Li C; Yang G; Liu M; Wang QK; Tang Z
BMC Med Genet; 2010 Aug; 11():121. PubMed ID: 20696082
[TBL] [Abstract][Full Text] [Related]
14. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.
Zelinger L; Banin E; Obolensky A; Mizrahi-Meissonnier L; Beryozkin A; Bandah-Rozenfeld D; Frenkel S; Ben-Yosef T; Merin S; Schwartz SB; Cideciyan AV; Jacobson SG; Sharon D
Am J Hum Genet; 2011 Feb; 88(2):207-15. PubMed ID: 21295282
[TBL] [Abstract][Full Text] [Related]
15. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Azam M; Khan MI; Gal A; Hussain A; Shah ST; Khan MS; Sadeque A; Bokhari H; Collin RW; Orth U; van Genderen MM; den Hollander AI; Cremers FP; Qamar R
Mol Vis; 2009 Dec; 15():2526-34. PubMed ID: 19960070
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
Pach J; Kohl S; Gekeler F; Zobor D
Mol Vis; 2013; 19():1350-5. PubMed ID: 23805042
[TBL] [Abstract][Full Text] [Related]
17. Homozygous and heterozygous retinal phenotypes in families harbouring
Khan AO; Al Teneiji AM
Ophthalmic Genet; 2019 Jun; 40(3):247-251. PubMed ID: 31264916
[No Abstract] [Full Text] [Related]
18. Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
Kuehn MH; Stone EM; Hageman GS
Invest Ophthalmol Vis Sci; 2001 Dec; 42(13):3123-9. PubMed ID: 11726612
[TBL] [Abstract][Full Text] [Related]
19. Pathogenic variants in
Olivier G; Corton M; Intartaglia D; Verbakel SK; Sergouniotis PI; Le Meur G; Dhaenens CM; Naacke H; Avila-Fernández A; Hoyng CB; Klevering J; Bocquet B; Roubertie A; Sénéchal A; Banfi S; Muller A; Hamel CL; Black GC; Conte I; Roosing S; Zanlonghi X; Ayuso C; Meunier I; Manes G
J Med Genet; 2021 Aug; 58(8):570-578. PubMed ID: 32817297
[TBL] [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]
