Rosanna Pescini Gobert

Publications | Mémoires et thèses

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6 publications

2023 | 2022 | 2021 | 2019 |
2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter V.G., Kaminska K., Santos C., Quinodoz M., Cancellieri F., Cisarova K., Pescini Gobert R., Rodrigues R., Custódio S., Paris L.P. et al., 2023/03. PNAS nexus, 2 (3) pp. pgad043. Peer-reviewed.
[URN][DOI][Pmid][serval:BIB_5376D39C0896]
2022
Haematological changes from conception to childbirth: An indicator of major pregnancy complications.
Patxot M., Stojanov M., Ojavee S.E., Pescini Gobert R., Kutalik Z., Gavillet M., Baud D., Robinson M.R., 2022/08. European journal of haematology, 109 (5) pp. 566-575. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_296C163E9E74]
2021
 
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 W.L., Speck-Martins C.E., Carvalho D.R., Farage L. et al., 2021/04. Nature, 592 (7852) pp. 93-98. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3BBE7F51AD8]
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.
Ruberto F.P., Balzano S., Namburi P., Kimchi A., Pescini-Gobert R., Obolensky A., Banin E., Ben-Yosef T., Sharon D., Rivolta C., 2021. Molecular vision, 27 pp. 107-116. Peer-reviewed.
[URN][WoS][Pmid][serval:BIB_3B899AA4D66D]
2019
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter V.G., Quinodoz M., Pinto-Basto J., Sousa S.B., Di Gioia S.A., Soares G., Ferraz Leal G., Silva E.D., Pescini Gobert R., Miyake N. et al., 2019/12. Genetics in medicine, 21 (12) pp. 2734-2743. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_E8A5E155FB34]
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. et al., 2019/06/03. Investigative ophthalmology & visual science, 60 (7) pp. 2764-2772. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_81CE283BA696]
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