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Page 1
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, Raynaud F, Zografos L, Schalenbourg A, Speiser D, Nicolas M, Vallat L, Klein R, Leyvraz S, Ciriello G, Riggi N, Moulin AP, Rivolta C. Royer-Bertrand B, et al. Among authors: pescini gobert r. Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745836 Free PMC article.
Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.
El Zaoui I, Bucher M, Rimoldi D, Nicolas M, Kaya G, Pescini Gobert R, Bedoni N, Schalenbourg A, Sakina E, Zografos L, Leyvraz S, Riggi N, Rivolta C, Moulin AP. El Zaoui I, et al. Among authors: pescini gobert r. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2764-2772. doi: 10.1167/iovs.18-26508. Invest Ophthalmol Vis Sci. 2019. PMID: 31247083
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B. Peter VG, et al. Among authors: pescini gobert r. Genet Med. 2019 Dec;21(12):2734-2743. doi: 10.1038/s41436-019-0595-x. Epub 2019 Jul 2. Genet Med. 2019. PMID: 31263216 Free PMC article.
Genomic and transcriptomic landscape of conjunctival melanoma.
Cisarova K, Folcher M, El Zaoui I, Pescini-Gobert R, Peter VG, Royer-Bertrand B, Zografos L, Schalenbourg A, Nicolas M, Rimoldi D, Leyvraz S, Riggi N, Moulin AP, Rivolta C. Cisarova K, et al. Among authors: pescini gobert r. PLoS Genet. 2020 Dec 31;16(12):e1009201. doi: 10.1371/journal.pgen.1009201. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33383577 Free PMC article.
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, Pescini Gobert R, Rodrigues R, Custódio S, Paris LP, Sousa AB, Coutinho Santos L, Rivolta C. Peter VG, et al. Among authors: pescini gobert r. PNAS Nexus. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043. eCollection 2023 Mar. PNAS Nexus. 2023. PMID: 36909829 Free PMC article.
A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.
Zhao M, Andrieu-Soler C, Kowalczuk L, Paz Cortés M, Berdugo M, Dernigoghossian M, Halili F, Jeanny JC, Goldenberg B, Savoldelli M, El Sanharawi M, Naud MC, van Ijcken W, Pescini-Gobert R, Martinet D, Maass A, Wijnholds J, Crisanti P, Rivolta C, Behar-Cohen F. Zhao M, et al. Among authors: pescini gobert r. J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015. J Neurosci. 2015. PMID: 25878282 Free PMC article.
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, Chiesa C, Niel-Bütschi F, Wittler L, Timmermann B, Spielmann M, Robson MI, Ringel A, Heinrich V, Cova G, Andrey G, Prada-Medina CA, Pescini-Gobert R, Unger S, Bonafé L, Grote P, Rivolta C, Mundlos S, Superti-Furga A. Allou L, et al. Among authors: pescini gobert r. Nature. 2021 Apr;592(7852):93-98. doi: 10.1038/s41586-021-03208-9. Epub 2021 Feb 10. Nature. 2021. PMID: 33568816
Chemical inducers and transcriptional markers of oligodendrocyte differentiation.
Joubert L, Foucault I, Sagot Y, Bernasconi L, Duval F, Alliod C, Frossard MJ, Pescini Gobert R, Curchod ML, Salvat C, Nichols A, Pouly S, Rommel C, Roach A, Hooft van Huijsduijnen R. Joubert L, et al. J Neurosci Res. 2010 Sep;88(12):2546-57. doi: 10.1002/jnr.22434. J Neurosci Res. 2010. PMID: 20544820
13 results