CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

por Venturini, Giulia, Rose, Anna M., Shah, Amna Z., Bhattacharya, Shomi S., Rivolta, Carlo
Publicado 2012

Molecular Mechanisms Underlying Vascular Liver Diseases: Focus on Thrombosis

por Giuli, Lucia, Pallozzi, Maria, Venturini, Giulia, Gasbarrini, Antonio, Ponziani, Francesca Romana, Santopaolo, Francesco
Publicado 2023

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

por Rose, Anna M, Shah, Amna Z, Venturini, Giulia, Rivolta, Carlo, Rose, Geoffrey E, Bhattacharya, Shomi S
Publicado 2013

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

por Rose, Anna M., Shah, Amna Z., Venturini, Giulia, Krishna, Abhay, Chakravarti, Aravinda, Rivolta, Carlo, Bhattacharya, Shomi S.
Publicado 2016

In vivo analysis of onset and progression of retinal degeneration in the Nr2e3(rd7/rd7) mouse model of enhanced S-cone sensitivity syndrome

por Venturini, Giulia, Kokona, Despina, Steiner, Beatrice L., Bulla, Emanuele G., Jovanovic, Joel, Zinkernagel, Martin S., Escher, Pascal
Publicado 2021

Author Correction: In vivo analysis of onset and progression of retinal degeneration in the Nr2e3(rd7/rd7) mouse model of enhanced S-cone sensitivity syndrome

por Venturini, Giulia, Kokona, Despina, Steiner, Beatrice L., Bulla, Emanuele G., Jovanovic, Joel, Zinkernagel, Martin S., Escher, Pascal
Publicado 2021

Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

por Venturini, Giulia, Di Gioia, Silvio Alessandro, Harper, Shyana, Weigel-DiFranco, Carol, Rivolta, Carlo, Berson, Eliot L.
Publicado 2014

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies

por Saqib, Muhammad Arif Nadeem, Nikopoulos, Konstantinos, Ullah, Ehsan, Sher Khan, Falak, Iqbal, Jamila, Bibi, Rabia, Jarral, Afeefa, Sajid, Sundus, Nishiguchi, Koji M., Venturini, Giulia, Ansar, Muhammad, Rivolta, Carlo
Publicado 2015

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

por Hoggart, Clive J., Venturini, Giulia, Mangino, Massimo, Gomez, Felicia, Ascari, Giulia, Zhao, Jing Hua, Teumer, Alexander, Winkler, Thomas W., Tšernikova, Natalia, Luan, Jian'an, Mihailov, Evelin, Ehret, Georg B., Zhang, Weihua, Lamparter, David, Esko, Tõnu, Macé, Aurelien, Rüeger, Sina, Bochud, Pierre-Yves, Barcella, Matteo, Dauvilliers, Yves, Benyamin, Beben, Evans, David M., Hayward, Caroline, Lopez, Mary F., Franke, Lude, Russo, Alessia, Heid, Iris M., Salvi, Erika, Vendantam, Sailaja, Arking, Dan E., Boerwinkle, Eric, Chambers, John C., Fiorito, Giovanni, Grallert, Harald, Guarrera, Simonetta, Homuth, Georg, Huffman, Jennifer E., Porteous, David, Moradpour, Darius, Iranzo, Alex, Hebebrand, Johannes, Kemp, John P., Lammers, Gert J., Aubert, Vincent, Heim, Markus H., Martin, Nicholas G., Montgomery, Grant W., Peraita-Adrados, Rosa, Santamaria, Joan, Negro, Francesco, Schmidt, Carsten O., Scott, Robert A., Spector, Tim D., Strauch, Konstantin, Völzke, Henry, Wareham, Nicholas J., Yuan, Wei, Bell, Jordana T., Chakravarti, Aravinda, Kooner, Jaspal S., Peters, Annette, Matullo, Giuseppe, Wallaschofski, Henri, Whitfield, John B., Paccaud, Fred, Vollenweider, Peter, Bergmann, Sven, Beckmann, Jacques S., Tafti, Mehdi, Hastie, Nicholas D., Cusi, Daniele, Bochud, Murielle, Frayling, Timothy M., Metspalu, Andres, Jarvelin, Marjo-Riitta, Scherag, André, Smith, George Davey, Borecki, Ingrid B., Rousson, Valentin, Hirschhorn, Joel N., Rivolta, Carlo, Loos, Ruth J. F., Kutalik, Zoltán
Publicado 2014