Items where Author is "Venturini, Giulia"

2016

Rose, Anna M. and Shah, Amna Z. and Venturini, Giulia and Krishna, Abhay and Chakravarti, Aravinda and Rivolta, Carlo and Bhattacharya, Shomi S.. (2016) Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. Scientific Reports, 6. p. 19450.

2015

Saqib, Muhammad Arif Nadeem and Nikopoulos, Konstantinos and Ullah, Ehsan and Sher Khan, Falak and Iqbal, Jamila and Bibi, Rabia and Jarral, Afeefa and Sajid, Sundus and Nishiguchi, Koji M. and Venturini, Giulia and Ansar, Muhammad and Rivolta, Carlo. (2015) Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. Scientific Reports, 5. 09965.

Venturini, Giulia and Koskiniemi-Kuendig, Hanna and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2015) Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genetics in medicine, 17 (4). pp. 285-290.

2014

Rose, Anna M. and Shah, Amna Z. and Venturini, Giulia and Rivolta, Carlo and Rose, Geoffrey E. and Bhattacharya, Shomi S.. (2014) Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Annals of Human Genetics, 78. pp. 62-71.

Venturini, Giulia and Di Gioia, Silvio Alessandro and Harper, Shyana and Weigel-DiFranco, Carol and Rivolta, Carlo and Berson, Eliot L.. (2014) Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. PLoS ONE, 9 (3). e92479.

Hoggart, Clive J. and Venturini, Giulia and Mangino, Massimo and Gomez, Felicia and Ascari, Giulia and Zhao, Jing Hua and Teumer, Alexander and Winkler, Thomas W. and Tšernikova, Natalia and Luan, Jian'an and Mihailov, Evelin and Ehret, Georg B. and Zhang, Weihua and Lamparter, David and Esko, Tõnu and Macé, Aurelien and Rüeger, Sina and Bochud, Pierre-Yves and Barcella, Matteo and Dauvilliers, Yves and Benyamin, Beben and Evans, David M. and Hayward, Caroline and Lopez, Mary F. and Franke, Lude and Russo, Alessia and Heid, Iris M. and Salvi, Erika and Vendantam, Sailaja and Arking, Dan E. and Boerwinkle, Eric and Chambers, John C. and Fiorito, Giovanni and Grallert, Harald and Guarrera, Simonetta and Homuth, Georg and Huffman, Jennifer E. and Porteous, David and Generation Scotland Consortium, and LifeLines Cohort study, and Giant Consortium, and Moradpour, Darius and Iranzo, Alex and Hebebrand, Johannes and Kemp, John P. and Lammers, Gert J. and Aubert, Vincent and Heim, Markus H. and Martin, Nicholas G. and Montgomery, Grant W. and Peraita-Adrados, Rosa and Santamaria, Joan and Negro, Francesco and Schmidt, Carsten O. and Scott, Robert A. and Spector, Tim D. and Strauch, Konstantin and Völzke, Henry and Wareham, Nicholas J. and Yuan, Wei and Bell, Jordana T. and Chakravarti, Aravinda and Kooner, Jaspal S. and Peters, Annette and Matullo, Giuseppe and Wallaschofski, Henri and Whitfield, John B. and Paccaud, Fred and Vollenweider, Peter and Bergmann, Sven and Beckmann, Jacques S. and Tafti, Mehdi and Hastie, Nicholas D. and Cusi, Daniele and Bochud, Murielle and Frayling, Timothy M. and Metspalu, Andres and Jarvelin, Marjo-Riitta and Scherag, André and Smith, George Davey and Borecki, Ingrid B. and Rousson, Valentin and Hirschhorn, Joel N. and Rivolta, Carlo and Loos, Ruth J. F. and Kutalik, Zoltán. (2014) Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genetics, 10 (7). e1004508.

2013

Azzedine, Hamid and Zavadakova, Petra and Planté-Bordeneuve, Violaine and Vaz Pato, Maria and Pinto, Nuno and Bartesaghi, Luca and Zenker, Jennifer and Poirot, Olivier and Bernard-Marissal, Nathalie and Arnaud Gouttenoire, Estelle and Cartoni, Romain and Title, Alexandra and Venturini, Giulia and Médard, Jean-Jacques and Makowski, Edward and Schöls, Ludger and Claeys, Kristl G. and Stendel, Claudia and Roos, Andreas and Weis, Joachim and Dubourg, Odile and Leal Loureiro, José and Stevanin, Giovanni and Said, Gérard and Amato, Anthony and Baraban, Jay and LeGuern, Eric and Senderek, Jan and Rivolta, Carlo and Chrast, Roman. (2013) PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Human Molecular Genetics, 22 (20). pp. 4224-4232.

Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144.

2012

Venturini, Giulia and Rose, Anna M. and Shah, Amna Z. and Bhattacharya, Shomi S. and Rivolta, Carlo. (2012) CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genetics, 8 (11). e1003040.

Venturini, Giulia and Moulin, Alexandre P. and Deprez, Manuel and Uffer, Sylvie and Bottani, Armand and Zografos, Leonidas and Rivolta, Carlo. (2012) Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. Ophthalmology, 119 (4). pp. 857-864.