C. Rivolta

Discipline

Biological anthropology (9) Psychology (4) Economies and finances (2)

Type

Articles (75) Reviews (1) Others (1)

Co-author

Date

Source

Keyword

gene (42) mutation (38) Mutation (38) Human beings (37) analysis (35) Analysis (35) Patients (34) Patients (34) disease (33) Genes (33) disease (33) Families (31) Retinal (Visual pigment) (28) DNA (26) DNA (26) Retinitis pigmentosa (25) protein (22) novel (22) Phenotype (21) Cells (18) Cases (16) Cases (16) association (15) Social groups (15) Retinal degeneration (15) Expression (14) Family (14) region (13) Eye (13) Diseases (13)

Documents written by C. Rivolta (75) | is about C. Rivolta (0)

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression.
S. Malka et al. (Sep 5, 2024)
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.
S. Bibert et al. (May 10, 2024)
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
M. Quinodoz et al. (Apr 4, 2024)
Fine-tuning FAM161A gene augmentation therapy to restore retinal function.
Y. Arsenijevic et al.
GNB1-Related Rod-Cone Dystrophy: A Case Report.
G.M. Conti et al. (2024)
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
G.M. Conti et al. (2024)
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
V.G. Peter et al.
A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.
M. Ullah et al. (2023)
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
D.M. Panneman et al. (2023)
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
S. Van de Sompele et al. (Nov 3, 2022)
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
G. Povysil et al.
A first update on mapping the human genetic architecture of COVID-19
G. A. Pathak et al.
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.
K. Nardou et al. (Mar 19, 2022)
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
M. Quinodoz et al. (Mar 3, 2022)
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
A.U. Rehman et al. (Sep 29, 2021)
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
S. Lebon et al. (Sep 10, 2021)
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.
A.B. Gonçalves et al. (Jul 14, 2021)
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
R. Sangermano et al. (Jun 29, 2021)
New variants and in silico analyses in GRK1 associated Oguchi disease.
J.A. Poulter et al.
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
K.M. Nishiguchi et al. (Jan 29, 2021)
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
M. Quinodoz et al. (Jan 22, 2021)
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
F.P. Ruberto et al. (2021)
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients.
J. Lourenco et al. (2021)
Genomic and transcriptomic landscape of conjunctival melanoma.
K. Cisarova et al.
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies.
A. Salmaninejad et al. (Nov 10, 2020)

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