Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Isabella Pisani"'
Autor:
Verena Klämbt, Youying Mao, Vimla Aggarwal, Arang Kim, Friedhelm Hildebrandt, Mohamad A. Mikati, Vandana Shashi, Anne H. O’Donnell-Luria, Vaidehi Jobanputra, Jeremiah Martino, Vivette D. D'Agati, Minxian Wang, Marcus R. Benz, Shoji Yano, Janine Altmüller, Ali G. Gharavi, Florian Buerger, Enrico Fiaccadori, Richard P. Lifton, Bodo B. Beck, Amy Kolb, Mordi Muorah, David Goldstein, Nina Mann, Martin R. Pollak, Dina Ahram, Heidi Cope, Gian Marco Ghiggeri, Jillian S. Parboosingh, Asmaa S. AbuMaziad, Kamal Khan, Ana C. Onuchic-Whitford, Louise Bier, Emma Pierce-Hoffman, Jonathan E. Zuckerman, Shrikant Mane, Moin A. Saleem, Amar J. Majmundar, Heidi L. Rehm, Ora Yadin, Erin L. Heinzen, Gina Y. Jin, Christelle Moufawad El Achkar, Konstantin Deutsch, Julia Hoefele, Ania Koziell, Gianluca Caridi, Talha Gunduz, Agnieszka Bierzynska, Korbinian M. Riedhammer, Monica Bodria, Ronen Schneider, Julian A. Martinez-Agosto, Thomas M. Kitzler, Shirlee Shril, Ulrike John-Kroegel, Howard Trachtman, Adele Mitrotti, Eleanor G. Seaby, Amanda V. Tyndall, Isabella Pisani, Patricia L. Weng, Tze Y Lim, A. Micheil Innes, John Musgrove, Simone Sanna-Cherchi, Erica E. Davis
Publikováno v:
Am J Hum Genet
Focal segmental glomerulosclerosis (FSGS) is the main pathology underlying steroid-resistant nephrotic syndrome (SRNS) and a leading cause of chronic kidney disease. Monogenic forms of pediatric SRNS are predominantly caused by recessive mutations, w
Autor:
Taner Basturk, Ali G. Gharavi, Patrick Hamilton, Nan Chen, Kai-Uwe Eckardt, Weiming Wang, Paul Brenchley, Olivia Balderes, Dong Ki Kim, Elisabet Ars, Antonio Amoroso, Mehmet Sukru Sever, Neil Ashman, Bartosz Foroncewicz, Dan Zhang, Maddalena Marasa, Francesca Lugani, Elion Hoxha, Mario Bonomini, Gang Liu, Detlef Bockenhauer, Hakki Arikan, Pietro A. Canetta, Bruno Vogt, Magdalena Durlik, Carlo Sidore, Abdulmecit Yildiz, Mehmet Koc, Magdalena Zoledziewska, Simone Sanna-Cherchi, Antonello Pani, Domenico Santoro, Francesca Zanoni, Landino Allegri, Matthias Kretzler, Ireneusz Habura, Claudia Izzi, Naomi Issler, Carmelita Marcantoni, Isabella Pisani, Monica Bodria, Hajeong Lee, Krzysztof Mucha, Ruth J. F. Loos, Lawrence H. Beck, Laura H. Mariani, Rolf A.K. Stahl, Eimear E. Kenny, Gonca E. Karahan, Pierre Ronco, Robert Kleta, Francesco Scolari, José Ballarín, Francesco Londrino, Bénédicte Stengel, Dario Roccatello, Atlas Khan, Belong Cho, Gerald B. Appel, Lili Liu, Xiaofan Hu, Savas Ozturk, Karla Mehl, Ming hui Zhao, Ruth J. Pepper, Shreeram Akilesh, Zhao Cui, Yifu Li, Anna Köttgen, Lambertus A. Kiemeney, Fatih Ozay, Jack F.M. Wetzels, Stephen H. Powis, Jun Zhang, Silvana Savoldi, Hong Ren, Matthias Wuttke, John O. Connolly, Yon Su Kim, Gianluigi Zaza, Chris Cheshire, Simona Granata, Andrew S. Bomback, Nurhan Seyahi, Donatella Spotti, Vladimir Tesar, Stephanie Dufek, Fernando C. Fervenza, Krzysztof Kiryluk, Barbara Moszczuk, Leszek Pączek, Agnieszka Perkowska-Ptasińska, Nikol Mladkova, Shelly Harris, Loreto Gesualdo, Hitoshi Suzuki, Jin Ho Park, Jana Reiterova, Julia M. Hofstra, Francesco Cucca, Li Lin, Laila Yasmin Mani, Sanjana Gupta, Ben Sprangers, Iuliana Ionita-Laza, Daniel C. Cattran, Gian Marco Ghiggeri, Sebahat Akgul, Horia Stanescu, Matthew G. Sampson, Piergiorgio Messa, Xialian Yu, Marieke J H Coenen, Hanna Debiec, Jingyuan Xie, Jing Xu, Yasar Caliskan, Raphael J. Rosen, Priya Krithivasan, Marco Galliani
Publikováno v:
Nature Communications
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael; Bodria, Monica; Zanoni, Francesca; Zhang, Yun; Krithivasan, Priya; ... (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nature communications, 11(1), p. 1600. Nature Publishing Group 10.1038/s41467-020-15383-w
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Nature Communications, 11
Nature Communications, 11, 1
Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Hu, X, Yu, X, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, R J, Bodria, M, Zanoni, F, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, P A, Bomback, A S, Appel, G B, Sanna-Cherchi, S, Sampson, M G, Mariani, L H, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, L-Y, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, S U, Sever, M S, Zhang, D, Hamilton, P, Kleta, R & Brenchley, P 2020, ' The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis ', Nature Communications, vol. 11, no. 1, pp. 1600 . https://doi.org/10.1038/s41467-020-15383-w
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Communications, Vol 11, Iss 1, Pp 1-18 (2020)
Xie, Jingyuan; Liu, Lili; Mladkova, Nikol; Li, Yifu; Ren, Hong; Wang, Weiming; Cui, Zhao; Lin, Li; Hu, Xiaofan; Yu, Xialian; Xu, Jing; Liu, Gang; Caliskan, Yasar; Sidore, Carlo; Balderes, Olivia; Rosen, Raphael; Bodria, Monica; Zanoni, Francesca; Zhang, Yun; Krithivasan, Priya; ... (2020). The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis. Nature communications, 11(1), p. 1600. Nature Publishing Group 10.1038/s41467-020-15383-w
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
Nature Communications, 11
Nature Communications, 11, 1
Xie, J, Liu, L, Mladkova, N, Li, Y, Ren, H, Wang, W, Cui, Z, Hu, X, Yu, X, Liu, G, Caliskan, Y, Sidore, C, Balderes, O, Rosen, R J, Bodria, M, Zanoni, F, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, P A, Bomback, A S, Appel, G B, Sanna-Cherchi, S, Sampson, M G, Mariani, L H, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, L-Y, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, S U, Sever, M S, Zhang, D, Hamilton, P, Kleta, R & Brenchley, P 2020, ' The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis ', Nature Communications, vol. 11, no. 1, pp. 1600 . https://doi.org/10.1038/s41467-020-15383-w
Vogt, Bruno/0000-0002-1548-6387; Dufek, Stephanie/0000-0002-6323-6673; Liu, Lili/0000-0002-2622-9669; Paczek, Leszek/0000-0003-0160-3009; Cui, Zhao/0000-0002-5837-1926; amoroso, antonio/0000-0002-9437-9407; Rosen, Raphael/0000-0003-1025-1965; Loos, R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2891f6f81e786be552d26cf13e755862
https://hdl.handle.net/11424/243224
https://hdl.handle.net/11424/243224
Autor:
Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk
Publikováno v:
Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Group
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2, 824 cases and 21, 498 controls. Affected individuals carried a signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277
https://ruj.uj.edu.pl/xmlui/handle/item/108818
https://ruj.uj.edu.pl/xmlui/handle/item/108818