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Items: 9

1.

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD 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.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0595-x. [Epub ahead of print]

PMID:
31263216
2.

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.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2764-2772. doi: 10.1167/iovs.18-26508.

PMID:
31247083
3.

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.

Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13.

4.

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.

J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015.

5.

Immunohistochemical detection of sphingosine-1-phosphate receptor 1 and 5 in human multiple sclerosis lesions.

Brana C, Frossard MJ, Pescini Gobert R, Martinier N, Boschert U, Seabrook TJ.

Neuropathol Appl Neurobiol. 2014 Aug;40(5):564-78. doi: 10.1111/nan.12048.

PMID:
23551178
6.

Identification of VHY/Dusp15 as a regulator of oligodendrocyte differentiation through a systematic genomics approach.

Schmidt F, van den Eijnden M, Pescini Gobert R, Saborio GP, Carboni S, Alliod C, Pouly S, Staugaitis SM, Dutta R, Trapp B, Hooft van Huijsduijnen R.

PLoS One. 2012;7(7):e40457. doi: 10.1371/journal.pone.0040457. Epub 2012 Jul 11.

7.

Regulation of LRRK2 expression points to a functional role in human monocyte maturation.

Thévenet J, Pescini Gobert R, Hooft van Huijsduijnen R, Wiessner C, Sagot YJ.

PLoS One. 2011;6(6):e21519. doi: 10.1371/journal.pone.0021519. Epub 2011 Jun 27.

8.

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.

J Neurosci Res. 2010 Sep;88(12):2546-57. doi: 10.1002/jnr.22434.

PMID:
20544820
9.

Transcription factor-induced, phased bending of the E-selectin promoter.

Meacock S, Pescini-Gobert R, DeLamarter JF, Hooft van Huijsduijnen R.

J Biol Chem. 1994 Dec 16;269(50):31756-62.

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