R. Pescini-Gobert

Type de document

Articles (7)

Co-auteur

Date

Source

Mot-clé

mutation (5) gène (5) Mutation (5) Patients (4) Patients (4) paysage (3) analyse (3) ADN (3) Phenotype (3) Genes (3) Retinal (Visual pigment) (3) Melanoma (3) Human beings (3) Landscapes (3) Families (3) DNA (3) Cells (3) Addition (3) Analysis (3) Pathogenesis (3) Number (3) représentation de paysage (3) tissu (corporel) (2) région (2) protéine (2) association (2) maladie (2) adulte (2) Development (2) Deletion (2)

Documents écrit par R. Pescini-Gobert (7) | parle de R. Pescini-Gobert (0)

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.
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
F.P. Ruberto et al. (2021)
Genomic and transcriptomic landscape of conjunctival melanoma.
K. Cisarova et al.
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
V.G. Peter et al.
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
I. El Zaoui et al. (3 juin 2019)
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
B. Royer-Bertrand et al. (3 nov. 2016)
A New CRB1 Rat Mutation Links Müller Glial Cells to Retinal Telangiectasia.
M. Zhao et al. (2015)