Rosanna Pescini-Gobert
Overview
Explore the profile of Rosanna Pescini-Gobert including associated specialties, affiliations and a list of published articles.
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5
Citations
182
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Recent Articles
1.
Ruberto F, Balzano S, Namburi P, Kimchi A, Pescini-Gobert R, Obolensky A, et al.
Mol Vis
. 2021 Apr;
27:107-116.
PMID: 33907366
Purpose: Heterozygous mutations in the gene , encoding a pre-mRNA splicing factor, cause autosomal dominant retinitis pigmentosa (adRP) with reduced penetrance. At the molecular level, pathogenicity results from haploinsufficiency, as...
2.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schopflin R, et al.
Nature
. 2021 Feb;
592(7852):93-98.
PMID: 33568816
Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show...
3.
Cisarova K, Folcher M, El Zaoui I, Pescini-Gobert R, Peter V, Royer-Bertrand B, et al.
PLoS Genet
. 2020 Dec;
16(12):e1009201.
PMID: 33383577
Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively...
4.
Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, et al.
Am J Hum Genet
. 2016 Oct;
99(5):1190-1198.
PMID: 27745836
Uveal melanoma (UM) is a rare intraocular tumor that, similar to cutaneous melanoma, originates from melanocytes. To gain insights into its genetics, we performed whole-genome sequencing at very deep coverage...
5.
Zhao M, Andrieu-Soler C, Kowalczuk L, Cortes M, Berdugo M, Dernigoghossian M, et al.
J Neurosci
. 2015 Apr;
35(15):6093-106.
PMID: 25878282
We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal...