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Quoted phrase not found in phrase index: "Leber congenital amaurosis 7"
Page 1
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L. Radha Rama Devi A, et al. Pediatr Neurol. 2020 May;106:43-49. doi: 10.1016/j.pediatrneurol.2020.01.012. Epub 2020 Feb 4. Pediatr Neurol. 2020. PMID: 32139166
RESULTS: All of the cases were stratified into pure Joubert syndrome (62.7%), Joubert syndrome with retinal disease (22.0%), polydactyly (8.5%), and liver (1.7%) and kidney (1.7%) involvement. Joubert syndrome-related disorders include Meckel-Gruber syndrome …
RESULTS: All of the cases were stratified into pure Joubert syndrome (62.7%), Joubert syndrome with retinal disease (22.0%), polydact …
The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.
Kannabiran C. Kannabiran C. Ophthalmic Genet. 2020 Dec;41(6):513-517. doi: 10.1080/13816810.2020.1807025. Epub 2020 Aug 17. Ophthalmic Genet. 2020. PMID: 32799588 Review.
Mutations in the SPATA7 gene are associated with congenital and early-onset forms of retinal dystrophy. METHODS: Papers and review articles on SPATA7 were retrieved from the PubMed database using the search terms "SPATA7" and "spermatogenesis-associated protein 7". …
Mutations in the SPATA7 gene are associated with congenital and early-onset forms of retinal dystrophy. METHODS: Papers and review ar …
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).
Skorczyk-Werner A, Niedziela Z, Stopa M, Krawczyński MR. Skorczyk-Werner A, et al. Orphanet J Rare Dis. 2020 Dec 11;15(1):345. doi: 10.1186/s13023-020-01634-y. Orphanet J Rare Dis. 2020. PMID: 33308271 Free PMC article.
BACKGROUND: Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital blindness in children and the most severe form of inherited retinal dystrophies. ...CONCLUSIONS: This study provides the first molecula …
BACKGROUND: Leber congenital amaurosis (LCA) is a rare retinal disease that is the most frequent cause of congenital …
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. Simonelli F, et al. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4284-90. doi: 10.1167/iovs.07-0068. Invest Ophthalmol Vis Sci. 2007. PMID: 17724218
PURPOSE: To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis. ...Mutations occurred more frequently in the RPE65 (8.4%), CRB1 (7.4%), and GUCY2D (5.2%) genes. …
PURPOSE: To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to p …
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene.
Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choi W, Sheplock R, Swider M, Kosyk MS, Schwartz SB, Stone EM, Fishman GA. Jacobson SG, et al. Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2609-2622. doi: 10.1167/iovs.17-21560. Invest Ophthalmol Vis Sci. 2017. PMID: 28510626 Free article.
PURPOSE: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with a common intronic mutation in the CEP290 gene. ...Mobility scores were consistent with FST sensitivities. In patients examined with …
PURPOSE: To determine efficacy outcome measures for clinical trials of Leber congenital amaurosis (LCA) associated with …
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Ophthalmology. 2005 Feb;112(2):349-56. doi: 10.1016/j.ophtha.2004.08.023. Ophthalmology. 2005. PMID: 15691574
OBJECTIVE: To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to cause Leber congenital amaurosis (LCA). DESIGN: Observational prospective comparative study. ...RESULTS: Of the …
OBJECTIVE: To determine the clinical phenotypes in carriers with probable disease-causing sequence variations in 1 of 6 genes established to …
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.
Garcia-Cazorla À, Mochel F, Lamari F, Saudubray JM. Garcia-Cazorla À, et al. J Inherit Metab Dis. 2015 Jan;38(1):19-40. doi: 10.1007/s10545-014-9776-6. Epub 2014 Nov 21. J Inherit Metab Dis. 2015. PMID: 25413954 Free article. Review.
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPLA6-associated diseases, extending from Boucher-Neuhauser syndrome via Gordon Holmes syndrome to spastic ataxia and pure hereditary spastic p …
Many apparently well clinically defined syndromes are not distinct entities, but rather clusters on a continuous spectrum, like for the PNPL …
Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.
Kay C, Audo I, Naujoks C, Spera C, Fischer MD, Green J, Durham T, Williamson N, Bradley H, Barclay M, Sims J, Banhazi J, Patalano F. Kay C, et al. J Patient Rep Outcomes. 2023 Jul 19;7(1):74. doi: 10.1186/s41687-023-00610-x. J Patient Rep Outcomes. 2023. PMID: 37466759 Free PMC article.
BACKGROUND: Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) are rare inherited retinal degenerative disorders. ...The ViSIO-PRO and ObsRO items were well understood by participants and relevant across genotypes. The instructions, 7-day r …
BACKGROUND: Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA) are rare inherited retinal degenerative diso …
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. Zou X, et al. Retina. 2019 Oct;39(10):2040-2052. doi: 10.1097/IAE.0000000000002242. Retina. 2019. PMID: 30134391
RESULTS: Twenty-five different mutations of RDH12 were identified in the 38 families. Six of these variants were novel. Val146Asp was observed at the highest frequency (23.7%), and it was followed by Arg62Ter (14.5%) and Thr49Met (9.2%). Twenty-three probands were d …
RESULTS: Twenty-five different mutations of RDH12 were identified in the 38 families. Six of these variants were novel. Val146Asp was obs …
43 results