Publications et données de P. Farinelli

Documents écrit par P. Farinelli (6) | parle de P. Farinelli (6)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

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D.M. Panneman et al. (2023)

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Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs is challenging since >280 genes are associated with...

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

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K. Nikopoulos et al. (28 juin 2019)

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Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused by ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify a disruptive Alu insertion and a nonsense variant (p.Arg1933*) in the ciliary gene RP1, neithe...

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

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N. Bedoni et al. (15 oct. 2016)

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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

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K. Nikopoulos et al. (1 sept. 2016)

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Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pi...

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

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F. Coppieters et al. (4 août 2016)

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Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr),...

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

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S.A. Di Gioia et al. (2015)

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Defects in FAM161A, a protein of unknown function localized at the cilium of retinal photoreceptor cells, cause retinitis pigmentosa, a form of hereditary blindness. By using different fragments of this protein as baits to screen cDNA libraries of human and bovine retinas, we defined a yeast two-hyb...

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Livres et chapitres d'ouvrages

(1 avr. 2022)

Livres et chapitres d'ouvrages

Knjiga z okroglo številko 10 je luč sveta ugledala v jubilejnem 20. letu delovanja Historičnega seminarja ZRC SAZU. Na podlagi predavanj v ciklu je nastalo devet za monografijo predelanih, razširjenih in z znanstvenim aparatom opremljenih razprav. K. Oder piše o razvoju Železarne Ravne in njenem pom...

F. Bouchard, P. Farinelli (dir.), Les régions slovènes entre XVIIIe et XIXe siècles: plurilinguisme et transferts culturels

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Équipe de recherche Fabula

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