184 related articles for article (PubMed ID: 28586915)
1. Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Khan KN; El-Asrag ME; Ku CA; Holder GE; McKibbin M; Arno G; Poulter JA; Carss K; Bommireddy T; Bagheri S; Bakall B; Scholl HP; Raymond FL; Toomes C; Inglehearn CF; Pennesi ME; Moore AT; Michaelides M; Webster AR; Ali M;
Invest Ophthalmol Vis Sci; 2017 Jun; 58(7):2906-2914. PubMed ID: 28586915
[TBL] [Abstract][Full Text] [Related]
2. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S; van den Born LI; Sangermano R; Banfi S; Koenekoop RK; Zonneveld-Vrieling MN; Klaver CC; van Lith-Verhoeven JJ; Cremers FP; den Hollander AI; Hoyng CB
Ophthalmology; 2015 Jan; 122(1):170-9. PubMed ID: 25227500
[TBL] [Abstract][Full Text] [Related]
3. Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
Hull S; Owen N; Islam F; Tracey-White D; Plagnol V; Holder GE; Michaelides M; Carss K; Raymond FL; Rozet JM; Ramsden SC; Black GC; Perrault I; Sarkar A; Moosajee M; Webster AR; Arno G; Moore AT
Invest Ophthalmol Vis Sci; 2016 Mar; 57(3):1053-62. PubMed ID: 26968735
[TBL] [Abstract][Full Text] [Related]
4. MFSD8 gene mutations; evidence for phenotypic heterogeneity.
Zare-Abdollahi D; Bushehri A; Alavi A; Dehghani A; Mousavi-Mirkala M; Effati J; Miratashi SAM; Dehani M; Jamali P; Khorram Khorshid HR
Ophthalmic Genet; 2019 Apr; 40(2):141-145. PubMed ID: 31006324
[TBL] [Abstract][Full Text] [Related]
5. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
Ku CA; Hull S; Arno G; Vincent A; Carss K; Kayton R; Weeks D; Anderson GW; Geraets R; Parker C; Pearce DA; Michaelides M; MacLaren RE; Robson AG; Holder GE; Heon E; Raymond FL; Moore AT; Webster AR; Pennesi ME
JAMA Ophthalmol; 2017 Jul; 135(7):749-760. PubMed ID: 28542676
[TBL] [Abstract][Full Text] [Related]
6. Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Bauwens M; Storch S; Weisschuh N; Ceuterick-de Groote C; De Rycke R; Guillemyn B; De Jaegere S; Coppieters F; Van Coster R; Leroy BP; De Baere E
Clin Genet; 2020 Mar; 97(3):426-436. PubMed ID: 31721179
[TBL] [Abstract][Full Text] [Related]
7. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M; Siintola E; Dvorakova L; Vlaskova H; Turnbull J; Topcu M; Yuksel D; Gokben S; Minassian BA; Elleder M; Mole SE; Lehesjoki AE
Brain; 2009 Mar; 132(Pt 3):810-9. PubMed ID: 19201763
[TBL] [Abstract][Full Text] [Related]
8. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
Arno G; Hull S; Carss K; Dev-Borman A; Chakarova C; Bujakowska K; van den Born LI; Robson AG; Holder GE; Michaelides M; Cremers FP; Pierce E; Raymond FL; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4806-13. PubMed ID: 27623334
[TBL] [Abstract][Full Text] [Related]
9. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
[TBL] [Abstract][Full Text] [Related]
10. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Dev Borman A; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT
Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3927-38. PubMed ID: 22570351
[TBL] [Abstract][Full Text] [Related]
11. Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO
Ophthalmic Genet; 2019 Feb; 40(1):60-63. PubMed ID: 30822235
[TBL] [Abstract][Full Text] [Related]
12. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
13. Novel
Priluck AZ; Breazzano MP
Ophthalmic Genet; 2023 Apr; 44(2):186-190. PubMed ID: 35801630
[TBL] [Abstract][Full Text] [Related]
14. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
15. Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with
Poncet AF; Grunewald O; Vaclavik V; Meunier I; Drumare I; Pelletier V; Bocquet B; Todorova MG; Le Moing AG; Devos A; Schorderet DF; Jobic F; Defoort-Dhellemmes S; Dollfus H; Smirnov VM; Dhaenens CM
Int J Mol Sci; 2022 Apr; 23(8):. PubMed ID: 35457110
[TBL] [Abstract][Full Text] [Related]
16. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
Suga A; Mizota A; Kato M; Kuniyoshi K; Yoshitake K; Sultan W; Yamazaki M; Shimomura Y; Ikeo K; Tsunoda K; Iwata T
Invest Ophthalmol Vis Sci; 2016 Aug; 57(10):4255-63. PubMed ID: 27548899
[TBL] [Abstract][Full Text] [Related]
17. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu D; Dragostin O; Dica A; Hoffman-Zacharska D; Gos M; Bastian AE; Gherghiceanu M; Rolfs A; Nahavandi N; Craiu M; Iliescu C
Eur J Paediatr Neurol; 2015 Jan; 19(1):78-86. PubMed ID: 25439737
[TBL] [Abstract][Full Text] [Related]
18. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C; Terracciano A; Simonati A; Discepoli G; Cannelli N; Claps D; Crow YJ; Bianchi M; Kitzmuller C; Longo D; Tavoni A; Franzoni E; Tessa A; Veneselli E; Boldrini R; Filocamo M; Williams RE; Bertini ES; Biancheri R; Carrozzo R; Mole SE; Santorelli FM
Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
[TBL] [Abstract][Full Text] [Related]
19. Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
Birtel J; Gliem M; Mangold E; Tebbe L; Spier I; Müller PL; Holz FG; Neuhaus C; Wolfrum U; Bolz HJ; Charbel Issa P
Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3950-3959. PubMed ID: 28785766
[TBL] [Abstract][Full Text] [Related]
20. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab A; AlTalbishi A; Rosin B; Kanaan M; Kamal L; Swaroop A; Chowers I; Banin E; Sharon D; Khateb S
Acta Ophthalmol; 2019 Sep; 97(6):e877-e886. PubMed ID: 30925032
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
