תוצאות חיפוש - Anna Materna‐Kiryluk
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Whole-Exome Sequencing in Adults With Chronic Kidney Disease מאת Sneh Lata, Maddalena Marasà, Yifu Li, David Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Milo Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan G. Nestor, Lindsey M. Slater, Vivette D. D’Agati, Marcin Zaniew, Anna Materna‐Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A. Newton, Maya K. Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A. Canetta, Andrew S. Bomback, Gerald B. Appel, Corinne Antignac, Glen S. Markowitz, Christine Kim Garcia, Krzysztof Kiryluk, Simone Sanna‐Cherchi, Ali G. Gharavi
יצא לאור 2017Artigo -
2
Paper 6: EUROCAT member registries: Organization and activities מאת Ruth Greenlees, Amanda J. Neville, Marie‐Claude Addor, Emmanuelle Amar, Larraitz Arriola, Marian K. Bakker, Ingeborg Barišić, Patricia A. Boyd, Elisa Calzolari, Bérénice Doray, Elizabeth S. Draper, Dan J. Stein, Ester Garne, Miriam Gatt, Martin Haeusler, Karin Källén, Babak Khoshnood, Anna Latos‐Bieleńska, María‐Luisa Martínez‐Frías, Anna Materna‐Kiryluk, Carlos Matias Dias, Bob McDonnell, Carmel Mullaney, Vera Nelen, Mary O’Mahony, Anna Pierini, Annette Queißer‐Luft, Hanitra Randrianaivo–Ranjatoélina, Judith Rankin, Anke Rißmann, Annukka Ritvanen, Joaquín Salvador, A Šípek, David Tucker, Christine Verellen‐Dumoulin, Diana Wellesley, Wladimir Wertelecki
יצא לאור 2011Revisão -
3
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations מאת Simone Sanna‐Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita‐Laza, Valentina Capone, David Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A. Otto, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Katarina Vukojević, Igor Pediaditakis, Gabriel S. Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, J. A. E. van Wijk, Adela Arapović, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasić, Gian Marco Ghiggeri, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Shrikant Mane, David B. Goldstein, Richard P. Lifton, Nicholas Katsanis, Erica E. Davis, Ali G. Gharavi
יצא לאור 2017Artigo -
4
Mutations in <i>DSTYK</i> and Dominant Urinary Tract Malformations מאת Simone Sanna‐Cherchi, Rosemary V. Sampogna, Natalia Papeta, Katherine Burgess, Shannon N. Nees, Benjamin J. Perry, Monica Young Choi, Monica Bodria, Ying Liu, Patricia L. Weng, Vladimir J. Lozanovski, Miguel Verbitsky, Francesca Lugani, Roel Sterken, Neal Paragas, Gianluca Caridi, Alba Carrea, M. Dagnino, Anna Materna‐Kiryluk, Giuseppe Santamaria, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Nilgun Kacak, B. Bianco, Stefania Giberti, Maddalena Gigante, Giorgio Piaggio, Loreto Gesualdo, D. Kosuljandic Vukic, Katarina Vukojević, Mirna Saraga‐Babić, Marijan Saraga, Zoran Gucev, L Allegri, Anna Latos‐Bieleńska, D. Casu, Matthew W. State, Francesco Scolari, Roberto Ravazzolo, Krzysztof Kiryluk, Qais Al‐Awqati, Vivette D. D’Agati, Iain A. Drummond, Velibor Tasić, Richard P. Lifton, Gian Marco Ghiggeri, Ali G. Gharavi
יצא לאור 2013Artigo -
5
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations מאת Simone Sanna‐Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess, Monica Bodria, Matthew G. Sampson, Dexter Hadley, Shannon N. Nees, Miguel Verbitsky, Brittany J. Perry, Roel Sterken, Vladimir J. Lozanovski, Anna Materna‐Kiryluk, Cristina Barlassina, Akshata Kini, Valentina Corbani, Alba Carrea, Danio Somenzi, Corrado Murtas, Nadica Ristoska-Bojkovska, Claudia Izzi, Beatrice Bianco, Marcin Zaniew, Hana Flögelová, Patricia L. Weng, Nilgun Kacak, Stefania Giberti, Maddalena Gigante, Adela Arapović, Kristina Drnašin, Gianluca Caridi, Simona Curioni, Franca Allegri, Anita Ammenti, Stefania Ferretti, Vinicio Goj, Luca Bernardo, Vaidehi Jobanputra, Wendy K. Chung, Richard P. Lifton, Stephan Sanders, Matthew W. State, Lorraine N. Clark, Marijan Saraga, Sandosh Padmanabhan, Anna F. Dominiczak, Tatiana Foroud, Loreto Gesualdo, Zoran Gucev, Landino Allegri, Anna Latos‐Bieleńska, Daniele Cusi, Francesco Scolari, Velibor Tasić, Hákon Hákonarson, Gian Marco Ghiggeri, Ali G. Gharavi
יצא לאור 2012Artigo -
6
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome מאת Esther López-Rivera, Yangfan P. Liu, Miguel Verbitsky, Blair R. Anderson, Valentina Capone, Edgar A. Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J. Steers, David Fasel, Katarina Vukojević, Rong Deng, Silvia E. Racedo, Qingxue Liu, Max Werth, Rik Westland, Asaf Vivante, Gabriel S. Makar, Monica Bodria, Matthew G. Sampson, Christopher E. Gillies, Virginia Vega-Warner, Mariarosa Maiorana, Donald Petrey, Barry Honig, Vladimir J. Lozanovski, Rémi Salomon, Laurence Heidet, Wassila Carpentier, Dominique Gaillard, Alba Carrea, Loreto Gesualdo, Daniele Cusi, Claudia Izzi, Francesco Scolari, J. A. E. van Wijk, Adela Arapović, Mirna Saraga‐Babić, Marijan Saraga, Nenad Kunac, Ali Samii, Donna M. McDonald‐McGinn, T. Blaine Crowley, Elaine H. Zackai, Dorota Drożdż, Monika Miklaszewska, Marcin Tkaczyk, Przemysław Sikora, Maria Szczepańska, Małgorzata Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, Marcin Zaniew, John M. Darlow, Prem Puri, David Barton, E Casolari, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Hákon Hákonarson, Hana Flögelová, Velibor Tasić, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Landino Allegri, Craig S. Wong, Iain A. Drummond, Vivette D. D’Agati, Akira Imamoto, Jonathan Barasch, Friedhelm Hildebrandt, Krzysztof Kiryluk, Richard P. Lifton, Bernice E. Morrow, Marc Jeanpierre, Virginia E. Papaioannou, Gian Marco Ghiggeri, Ali G. Gharavi, Nicholas Katsanis, Simone Sanna‐Cherchi
יצא לאור 2017Artigo -
7
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux מאת Miguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, Atlas Khan, Sarah E. Graham, Maddalena Marasà, Hyun-Woo Kim, Tze Y. Lim, Patricia L. Weng, Elena Sánchez, Adele Mitrotti, Dina Ahram, Francesca Zanoni, David Fasel, Rik Westland, Matthew G. Sampson, Jun Y. Zhang, Monica Bodria, Byum Hee Kil, Shirlee Shril, Loreto Gesualdo, Fabio Torri, Francesco Scolari, Claudia Izzi, J. A. E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, David Barton, Mark G. Dobson, Prem Puri, Susan L. Furth, Bradley A. Warady, Isabella Pisani, Enrico Fiaccadori, Landino Allegri, Maria Ludovica Degl’Innocenti, Giorgio Piaggio, Shumyle Alam, Maddalena Gigante, Gianluigi Zaza, Pasquale Esposito, Fangming Lin, Ana Cristina Simões e Silva, Andrzej Brodkiewicz, Dorota Drożdż, Katarzyna Zachwieja, Monika Miklaszewska, Maria Szczepańska, Piotr Adamczyk, Marcin Tkaczyk, Daria Tomczyk, Przemysław Sikora, Małgorzata Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, Marcin Zaniew, Vladimir J. Lozanovski, Zoran Gucev, Iuliana Ionita‐Laza, Ian B. Stanaway, David R. Crosslin, Craig S. Wong, Friedhelm Hildebrandt, Jonathan Barasch, Eimear E. Kenny, Ruth J. F. Loos, Brynn Levy, Gian Marco Ghiggeri, Hákon Hákonarson, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, John M. Darlow, Velibor Tasić, Cristen J. Willer, Krzysztof Kiryluk, Simone Sanna‐Cherchi, Cathy Mendelsohn, Ali G. Gharavi
יצא לאור 2021Artigo -
8
The copy number variation landscape of congenital anomalies of the kidney and urinary tract מאת Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, J. A. E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drożdż, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemysław Sikora, Tomasz Jarmoliński, Maria Katarzyna Borszewska-Kornacka, Robert Pawluch, Maria Szczepańska, Piotr Adamczyk, Małgorzata Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasić, Isabella Pisani, Landino Allegri, Lida Rodas, Josep M. Campistol, Marc Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora Marques de Miranda, Eduardo A. Oliveira, Ana Cristina Simões e Silva, Jonathan Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Feng Zhang, Hákon Hákonarson, Virginia E. Papaioannou, Cathy Mendelsohn, Ali G. Gharavi, Simone Sanna‐Cherchi
יצא לאור 2018Artigo -
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Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract מאת Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, J. A. E. van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drożdż, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemysław Sikora, Tomasz Jarmoliński, Maria Katarzyna Borszewska-Kornacka, Robert Pawluch, Maria Szczepańska, Piotr Adamczyk, Małgorzata Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasić, Isabella Pisani, Landino Allegri, Lida Rodas, Josep M. Campistol, Marc Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora Marques de Miranda, Eduardo A. Oliveira, Ana Cristina Simões e Silva, Jonathan Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos‐Bieleńska, Anna Materna‐Kiryluk, Feng Zhang, Hákon Hákonarson, Virginia E. Papaioannou, Cathy Mendelsohn, Ali G. Gharavi, Simone Sanna‐Cherchi
יצא לאור 2019Errata/Corrigenda
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Gene
Medicine
Urinary system
Copy-number variation
Genome
Kidney
Locus (genetics)
Environmental health
Internal medicine
Population
Comparative genomic hybridization
Endocrinology
Exome
Exome sequencing
Zebrafish
Allelic heterogeneity
Anatomy
Astrophysics
Bioinformatics
Computer science
Computer security
Confidentiality
Congenital malformations
DiGeorge syndrome
Disease
Evolutionary biology
Family medicine
Genetic testing