These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
204 related articles for article (PubMed ID: 35456422)
41. Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network. Lorenz B; Tavares J; van den Born LI; Marques JP; Scholl HPN; Ophthalmic Res; 2021; 64(5):740-753. PubMed ID: 33684911 [TBL] [Abstract][Full Text] [Related]
42. Genetic testing for inherited retinal degenerations: Triumphs and tribulations. Branham K; Schlegel D; Fahim AT; Jayasundera KT Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):571-577. PubMed ID: 32865341 [TBL] [Abstract][Full Text] [Related]
43. An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials. Chiu W; Lin TY; Chang YC; Isahwan-Ahmad Mulyadi Lai H; Lin SC; Ma C; Yarmishyn AA; Lin SC; Chang KJ; Chou YB; Hsu CC; Lin TC; Chen SJ; Chien Y; Yang YP; Hwang DK Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33926102 [TBL] [Abstract][Full Text] [Related]
44. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. Sallum JMF; Motta FL; Arno G; Porto FBO; Resende RG; Belfort R Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):728-752. PubMed ID: 32865313 [TBL] [Abstract][Full Text] [Related]
45. Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Shevach E; Harel A; Storm T; Sagi M; Eli D; Merin S; Banin E; Sharon D Invest Ophthalmol Vis Sci; 2014 Feb; 55(2):1149-60. PubMed ID: 24474277 [TBL] [Abstract][Full Text] [Related]
49. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. Coppieters F; Casteels I; Meire F; De Jaegere S; Hooghe S; van Regemorter N; Van Esch H; Matuleviciene A; Nunes L; Meersschaut V; Walraedt S; Standaert L; Coucke P; Hoeben H; Kroes HY; Vande Walle J; de Ravel T; Leroy BP; De Baere E Hum Mutat; 2010 Oct; 31(10):E1709-66. PubMed ID: 20683928 [TBL] [Abstract][Full Text] [Related]
50. CRB1: one gene, many phenotypes. Ehrenberg M; Pierce EA; Cox GF; Fulton AB Semin Ophthalmol; 2013; 28(5-6):397-405. PubMed ID: 24138049 [TBL] [Abstract][Full Text] [Related]
51. Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Skorczyk-Werner A; Sowińska-Seidler A; Wawrocka A; Walczak-Sztulpa J; Krawczyński MR J Appl Genet; 2023 Feb; 64(1):89-104. PubMed ID: 36369640 [TBL] [Abstract][Full Text] [Related]
52. Toward an elucidation of the molecular genetics of inherited retinal degenerations. Farrar GJ; Carrigan M; Dockery A; Millington-Ward S; Palfi A; Chadderton N; Humphries M; Kiang AS; Kenna PF; Humphries P Hum Mol Genet; 2017 Aug; 26(R1):R2-R11. PubMed ID: 28510639 [TBL] [Abstract][Full Text] [Related]
53. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. Lin S; Vermeirsch S; Pontikos N; Martin-Gutierrez MP; Daich Varela M; Malka S; Schiff E; Knight H; Wright G; Jurkute N; Simcoe MJ; Yu-Wai-Man P; Moosajee M; Michaelides M; Mahroo OA; Webster AR; Arno G Ophthalmol Retina; 2024 Jul; 8(7):699-709. PubMed ID: 38219857 [TBL] [Abstract][Full Text] [Related]
54. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Simonelli F; Ziviello C; Testa F; Rossi S; Fazzi E; Bianchi PE; Fossarello M; Signorini S; Bertone C; Galantuomo S; Brancati F; Valente EM; Ciccodicola A; Rinaldi E; Auricchio A; Banfi S Invest Ophthalmol Vis Sci; 2007 Sep; 48(9):4284-90. PubMed ID: 17724218 [TBL] [Abstract][Full Text] [Related]
55. A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration. Mookherjee S; Chen HY; Isgrig K; Yu W; Hiriyanna S; Levron R; Li T; Colosi P; Chien W; Swaroop A; Wu Z Cell Rep; 2018 Oct; 25(3):611-623.e6. PubMed ID: 30332642 [TBL] [Abstract][Full Text] [Related]
56. 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]
57. Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). Weleber RG Ophthalmic Genet; 2002 Jun; 23(2):71-97. PubMed ID: 12187427 [TBL] [Abstract][Full Text] [Related]
58. Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies. Kamenarova K; Mihova K; Veleva N; Mermeklieva E; Mihaylova B; Dimitrova G; Oscar A; Shandurkov I; Cherninkova S; Kaneva R Mol Genet Genomic Med; 2022 Aug; 10(8):e1997. PubMed ID: 35656873 [TBL] [Abstract][Full Text] [Related]
59. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R Genet Test Mol Biomarkers; 2017 Feb; 21(2):66-73. PubMed ID: 28005406 [TBL] [Abstract][Full Text] [Related]