Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Rosanna Pescini-Gobert"'
Autor:
Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini-Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Publikováno v:
PLoS Genetics, Vol 16, Iss 12, p e1009201 (2020)
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 poorly characterized from a genomic point o
Externí odkaz:
https://doaj.org/article/6d13f01c6aab43f98a7237adb4d4366b
Autor:
Marion Patxot, Miloš Stojanov, Sven Erik Ojavee, Rosanna Pescini Gobert, Zoltán Kutalik, Mathilde Gavillet, David Baud, Matthew R. Robinson
Publikováno v:
European journal of haematologyREFERENCES. 109(5)
About 800 women die every day worldwide from pregnancy-related complications, including excessive blood loss, infections and high-blood pressure (World Health Organization, 2019). To improve screening for high-risk pregnancies, we set out to identify
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ad6ab0941431c2ae740e9dc9a4ccc7f
https://pubmed.ncbi.nlm.nih.gov/36059200
https://pubmed.ncbi.nlm.nih.gov/36059200
Autor:
Belinda Campos-Xavier, Noriko Miyake, Andrea Superti-Furga, Gabriela Ferraz Leal, Mathieu Quinodoz, Sérgio B. Sousa, Elizabeth C. Engle, Virginie G. Peter, Silvio Alessandro Di Gioia, Naomichi Matsumoto, Jorge Pinto-Basto, Carlo Rivolta, Sheila Unger, Frederic Shapiro, Rosanna Pescini Gobert, Eduardo D. Silva, Gabriela Soares
Publikováno v:
Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Purpose We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with sc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e920781a864ddd0dd5e644573d533de
https://doi.org/10.1038/s41436-019-0595-x
https://doi.org/10.1038/s41436-019-0595-x
Autor:
Rosanna Pescini-Gobert, Luciano Farage, Mathieu Quinodoz, Stefan Mundlos, Srilakshmi Rajagopal, Andreas Magg, Sara Balzano, Phillip Grote, Wing Lee Chan, Alessa R. Ringel, Daniel R. Carvalho, Malte Spielmann, Sheila Unger, Belinda Campos-Xavier, Giulia Cova, Regina Albuquerque, Beryl Royer-Bertrand, Florence Niel-Bütschi, Sheela Nampoothiri, Michael I. Robson, Charles Marques Lourenço, Bernd Timmermann, Guillaume Andrey, Carlo Rivolta, Carlos E. Speck-Martins, Lars Wittler, Verena Heinrich, Cesar Augusto Prada-Medina, Luisa Bonafé, Andrea Superti-Furga, Lila Allou, Robert Schöpflin, Carole Chiesa
Publikováno v:
Nature (2021)
Nature
Nature
Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks1, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show that genetic ablation of a lncRNA locus on human
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97517091f766d74245c65c68bee42eaa
https://archive-ouverte.unige.ch/unige:149472
https://archive-ouverte.unige.ch/unige:149472
Autor:
Rosanna Pescini-Gobert, Beryl Royer-Bertrand, Ikram El Zaoui, Leonidas Zografos, Serge Leyvraz, Nicolo Riggi, Carlo Rivolta, Alexandre Moulin, Marc Folcher, Michael Nicolas, Katarina Cisarova, Virginie G. Peter, Donata Rimoldi, Ann Schalenbourg
Publikováno v:
PLoS Genetics, Vol 16, Iss 12, p e1009201 (2020)
PLoS Genetics
PLoS genetics, vol. 16, no. 12, pp. e1009201
PLoS Genetics
PLoS genetics, vol. 16, no. 12, pp. e1009201
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 poorly characterized from a genomic point o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a3eb0b18a9b07247281064ff06625a
https://doaj.org/article/6d13f01c6aab43f98a7237adb4d4366b
https://doaj.org/article/6d13f01c6aab43f98a7237adb4d4366b
Autor:
Francesco Paolo, Ruberto, Sara, Balzano, Prasanthi, Namburi, Adva, Kimchi, Rosanna, Pescini-Gobert, Alexey, Obolensky, Eyal, Banin, Tamar, Ben-Yosef, Dror, Sharon, Carlo, Rivolta
Publikováno v:
Molecular Vision
Purpose Heterozygous mutations in the gene PRPF31, encoding a pre-mRNA splicing factor, cause autosomal dominant retinitis pigmentosa (adRP) with reduced penetrance. At the molecular level, pathogenicity results from haploinsufficiency, as the larges
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dfe4f2f935bedf61bffc7f4be8171c47
https://pubmed.ncbi.nlm.nih.gov/33907366
https://pubmed.ncbi.nlm.nih.gov/33907366
Autor:
Fanny Schmidt, Monique van den Eijnden, Rosanna Pescini Gobert, Gabriela P Saborio, Susanna Carboni, Chantal Alliod, Sandrine Pouly, Susan M Staugaitis, Ranjan Dutta, Bruce Trapp, Rob Hooft van Huijsduijnen
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40457 (2012)
Multiple sclerosis (MS) is a neuroinflammatory disease characterized by a progressive loss of myelin and a failure of oligodendrocyte (OL)-mediated remyelination, particularly in the progressive phases of the disease. An improved understanding of the
Externí odkaz:
https://doaj.org/article/8575d61af49245e7b5900332fdbc6c00
Autor:
Jonathan Thévenet, Rosanna Pescini Gobert, Robertus Hooft van Huijsduijnen, Christoph Wiessner, Yves Jean Sagot
Publikováno v:
PLoS ONE, Vol 6, Iss 6, p e21519 (2011)
Genetic variants of Leucine-Rich Repeat Kinase 2 (LRRK2) are associated with a significantly enhanced risk for Parkinson disease, the second most common human neurodegenerative disorder. Despite major efforts, our understanding of LRRK2 biological fu
Externí odkaz:
https://doaj.org/article/7775a445e7dd4b72ae9f6ca566f00ad6
Autor:
Serge Leyvraz, Beryl Royer-Bertrand, Laureen Vallat, Leonidas Zografos, Carlo Rivolta, Giovanni Ciriello, Donata Rimoldi, Nicolo Riggi, Rosanna Pescini-Gobert, Ikram El Zaoui, Ann Schalenbourg, Alexandre Moulin, Matteo Torsello, Robert J. Klein, Franck Raynaud, Daniel E. Speiser, Katarina Cisarova, Michael Nicolas
Publikováno v:
American journal of human genetics
American journal of human genetics, vol. 99, no. 5, pp. 1190-1198
American journal of human genetics, vol. 99, no. 5, pp. 1190-1198
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 of tumor-control pairs in 33 samples (24
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::230ee35aae2441c8bc1433362a5e57d4
Autor:
Marie José Frossard, Nicolas Martinier, Rosanna Pescini Gobert, Ursula Boschert, Corinne Brana, Timothy J. Seabrook
Publikováno v:
Neuropathology and Applied Neurobiology. 40:564-578
Aims Sphingosine-1-phosphate receptor (S1PR) modulating therapies are currently in the clinic or undergoing investigation for multiple sclerosis (MS) treatment. However, the expression of S1PRs is still unclear in the central nervous system under nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a518ab9b0485c139e62b3f59f342a286
https://doi.org/10.1111/nan.12048
https://doi.org/10.1111/nan.12048