Cargando…

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited...

Descripción completa

Detalles Bibliográficos
Autores principales:	Srilekha, Sundaramurthy, Arokiasamy, Tharigopala, Srikrupa, Natarajan N., Umashankar, Vetrivel, Meenakshi, Swaminathan, Sen, Parveen, Kapur, Suman, Soumittra, Nagasamy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493089/ https://www.ncbi.nlm.nih.gov/pubmed/26147992 http://dx.doi.org/10.1371/journal.pone.0131679

Ejemplares similares

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis
por: Ramprasad, Vedam Lakshmi, et al.
Publicado: (2008)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis
por: Srikrupa, Natarajan N., et al.
Publicado: (2021)

Association of polymorphisms in the intron of TCF4 gene to late-onset Fuchs endothelial corneal dystrophy: An Indian cohort study
por: Rao, Bhavna S, et al.
Publicado: (2017)

Prevalence of primary mutations in Leber hereditary optic neuropathy: A five-year report from a tertiary eye care center in India
por: Sundaramurthy, Srilekha, et al.
Publicado: (2021)

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
por: Bocquet, Béatrice, et al.
Publicado: (2013)

Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort
por: Malaichamy, Sivasankar, et al.
Publicado: (2014)

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants
por: Sarkar, Hajrah, et al.
Publicado: (2021)

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
por: Sudha, Dhandayuthapani, et al.
Publicado: (2018)

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India
por: Sen, Parveen, et al.
Publicado: (2023)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
por: Panneman, Daan M., et al.
Publicado: (2023)

Psychometric Validation of the ViSIO-PRO and ViSIO-ObsRO in Retinitis Pigmentosa and Leber Congenital Amaurosis
por: Fischer, M. Dominik, et al.
Publicado: (2023)

Molecular characterization of Leber congenital amaurosis in Koreans
por: Seong, Moon-Woo, et al.
Publicado: (2008)

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family
por: Zobor, Ditta, et al.
Publicado: (2014)

NMNAT1 mutations cause Leber congenital amaurosis
por: Falk, Marni J, et al.
Publicado: (2012)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
por: Garg, Abhimanyu, et al.
Publicado: (2022)

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
por: Arno, Gavin, et al.
Publicado: (2016)

A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration
por: Ali, Manir, et al.
Publicado: (2008)

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening
por: Chen, Jianjun, et al.
Publicado: (2017)

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
por: Han, Jinu, et al.
Publicado: (2017)

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations
por: Huang, Chu-Hsuan, et al.
Publicado: (2021)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

SLC7A14 linked to autosomal recessive retinitis pigmentosa
por: Jin, Zi-Bing, et al.
Publicado: (2014)

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
por: Li, Lin, et al.
Publicado: (2017)

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
por: Melillo, Paolo, et al.
Publicado: (2012)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
por: Weisschuh, Nicole, et al.
Publicado: (2018)

Novel mutation identified in Leber congenital amaurosis - a case report
por: Sato, Shigeru, et al.
Publicado: (2020)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2020)

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
por: Berger, Silke, et al.
Publicado: (2023)

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber’s congenital amaurosis in unrelated Chinese patients
por: Huang, Hui, et al.
Publicado: (2017)

Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family
por: Pojda-Wilczek, Dorota, et al.
Publicado: (2022)

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
por: Lenaers, Guy, et al.
Publicado: (2023)

A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa
por: Winkler, Paige A., et al.
Publicado: (2013)

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice
por: van Huet, Ramon A. C., et al.
Publicado: (2015)

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
por: Habib, Faiza, et al.
Publicado: (2023)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_c5dgccunnju730g5ho56j86c2e