Cargando…

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

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. To date, 25 genes have been implicated in the pathogenesis of LCA. As gene therapy is becoming availab...

Descripción completa

Detalles Bibliográficos
Autores principales:	Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731562/ https://www.ncbi.nlm.nih.gov/pubmed/33308271 http://dx.doi.org/10.1186/s13023-020-01634-y

Ejemplares similares

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
por: Skorczyk-Werner, Anna, et al.
Publicado: (2022)

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

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

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
por: O'Connor, Keli, et al.
Publicado: (2022)

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
por: Ahmad, Adeel, et al.
Publicado: (2011)

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

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
por: Jacobson, Samuel G., et al.
Publicado: (2009)

Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
por: Faber, Siebren, et al.
Publicado: (2023)

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort
por: Zobor, Ditta, et al.
Publicado: (2023)

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
por: Wawrocka, Anna, et al.
Publicado: (2018)

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
por: Skorczyk, Anna, et al.
Publicado: (2012)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
por: Skorczyk-Werner, Anna, et al.
Publicado: (2018)

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

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
por: Ragi, Sara D., et al.
Publicado: (2019)

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)

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
por: Surl, Dongheon, et al.
Publicado: (2020)

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

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

Five novel CNGB3 gene mutations in Polish patients with achromatopsia
por: Wawrocka, Anna, et al.
Publicado: (2014)

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

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

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

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

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population
por: Zhong, Zilin, et al.
Publicado: (2019)

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

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

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

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
por: Padhy, Srikanta Kumar, et al.
Publicado: (2020)

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
por: Hosono, Katsuhiro, et al.
Publicado: (2015)

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
por: Soens, Zachry T., et al.
Publicado: (2016)

CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
por: Saberi, Mohammad, et al.
Publicado: (2019)

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
por: Liu, Jing, et al.
Publicado: (2017)

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
por: Khan, Shaheryar Ahmed, et al.
Publicado: (2019)

fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis
por: Ashtari, Manzar, et al.
Publicado: (2014)

Ultra wide field imaging of coats like response in Leber’s congenital amaurosis
por: Kumar, Vinod, et al.
Publicado: (2017)

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
por: Wang, Xia, et al.
Publicado: (2020)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

Pathogenicity Reclassification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy
por: Motta, Fabiana L., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_1il5old9dih5cia8ck0c46i1p4