检索结果 - Zoran Gucev
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Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder 由 Zoran Gucev, Velibor Tasić, Aleksandra Jančevska, Marina Krstevska Konstantinova, Nada Pop‐Jordanova, Zoran Trajkovski, Leslie G. Biesecker
出版 2008Artigo -
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Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 由 Duncan B. Sparrow, Aideen M. McInerney‐Leo, Zoran Gucev, Brooke Gardiner, Mhairi Marshall, Paul Leo, Deborah L. Chapman, Velibor Tasić, Abduhadi Shishko, Matthew A. Brown, Emma L. Duncan, Sally L. Dunwoodie
出版 2013Artigo -
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Fourteen Monogenic Genes Account for 15% of Nephrolithiasis/Nephrocalcinosis 由 Jan Halbritter, Michelle A. Baum, Ann Marie Hynes, Sarah J. Rice, David T. Thwaites, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jonathan D. Porath, Daniela A. Braun, Ari J. Wassner, Caleb P. Nelson, Velibor Tasić, John A. Sayer, Friedhelm Hildebrandt
出版 2014Artigo -
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Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis 由 Daniela A. Braun, Jennifer A. Lawson, Heon Yung Gee, Jan Halbritter, Shirlee Shril, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, Brittany Fisher, Leslie Spaneas, Jennifer D. Varner, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Friedhelm Hildebrandt
出版 2016Artigo -
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Mutations in SLC26A1 Cause Nephrolithiasis 由 Heon Yung Gee, Ikhyun Jun, Daniela A. Braun, Jennifer A. Lawson, Jan Halbritter, Shirlee Shril, Caleb P. Nelson, Weizhen Tan, Deborah R. Stein, Ari J. Wassner, Michael A. Ferguson, Zoran Gucev, John A. Sayer, Danko Milošević, Michelle A. Baum, Velibor Tasić, Min Goo Lee, Friedhelm Hildebrandt
出版 2016Artigo -
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Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3 由 Delanie B. Macedo, Ana Paula Abreu, Ana Claudia S. Reis, Luciana Ribeiro Montenegro, Andrew Dauber, Daiane Beneduzzi, Priscilla Cukier, Letícia Ferreira Gontijo Silveira, Milena Gurgel Teles, Rona S. Carroll, Gil Guerra‐Júnior, Guilherme Guaragna‐Filho, Zoran Gucev, Ivo J.P. Arnhold, Margaret de Castro, Ayrton Custódio Moreira, Carlos Eduardo Martinelli, Joel N. Hirschhorn, Berenice B. Mendonça, Vinícius Nahime Brito, Sonir Roberto Rauber Antonini, Ursula B. Kaiser, Ana Cláudia Latronico
出版 2014Artigo -
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Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA 由 Marjorie J. Lindhurst, Victoria E R Parker, Felicity Payne, Julie C. Sapp, Simon A. Rudge, Julie Harris, Alison M. Witkowski, Zuo‐Feng Zhang, Matthijs Groeneveld, Clare L. Scott, Allan Daly, Susan Huson, Laura L. Tosi, Michael L. Cunningham, Thomas N. Darling, Joseph S. Geer, Zoran Gucev, V. Reid Sutton, Christos Tziotzios, Adrian K. Dixon, Timothy R. Helliwell, Stephen O’Rahilly, David B. Savage, Michael J.O. Wakelam, Inês Barroso, Leslie G. Biesecker, Robert K. Semple
出版 2012Artigo -
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Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum 由 Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E R Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan Huson, Richard W. Whitehousé, Eveliina Jakkula, I. P. Grant, Meena Balasubramanian, Kate Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin D. Clark, Elizabeth A. Sellars, Loren Peña, Vidya Krishnamurty, Andrew Y. Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasić, John M. Graham, Joseph S. Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker
出版 2014Artigo -
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Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis 由 Ankana Daga, Amar J. Majmundar, Daniela A. Braun, Heon Yung Gee, Jennifer A. Lawson, Shirlee Shril, Tilman Jobst‐Schwan, Asaf Vivante, David Schapiro, Weizhen Tan, Jillian K. Warejko, Eugen Widmeier, Caleb P. Nelson, Hanan Fathy, Zoran Gucev, Neveen A. Soliman, Seema Hashmi, Jan Halbritter, Margarita Halty, Jameela A. Kari, Sherif M. El-Desoky, Michael A. Ferguson, Michael J.G. Somers, Avram Z. Traum, Deborah R. Stein, Ghaleb H. Daouk, Nancy Rodig, A. Katz, Christian Hanna, Andrew L. Schwaderer, John A. Sayer, Ari J. Wassner, Shrikant Mane, Richard P. Lifton, Danko Milošević, Velibor Tasić, Michelle A. Baum, Friedhelm Hildebrandt
出版 2017Artigo -
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Mutations in <i>DSTYK</i> and Dominant Urinary Tract Malformations 由 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
出版 2013Artigo -
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<i>TBX6</i>Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis 由 Nan Wu, Ming Xuan, Jianqiu Xiao, Zhihong Wu, Xiaoli Chen, Marwan Shinawi, Joseph Shen, Gaobo Yu, Jiaqi Liu, Hua Xie, Zoran Gucev, Shiyuan Liu, Ni Yang, Hussam Al‐Kateb, Jin Chen, Jian Zhang, Nik Hauser, T Zhang, Velibor Tasić, P Liu, Lei Su, Xiaodong Pan, Chunyu Liu, L Wang, Jianxiong Shen, Jianxiong Shen, Y Chen, T Zhang, Jian Zhang, Kwong Wai Choy, Jin Wang, Q Wang, Shihua Li, Weichen Zhou, J. Guo, Yipeng Wang, C Zhang, Hong Zhao, Yu An, Yu Zhao, Jin Wang, Zhihong Liu, Yueming Zuo, Yun Tian, Xisheng Weng, V. Reid Sutton, H Wang, Yulong Ming, S Kulkarni, Tao P. Zhong, Philip F. Giampietro, Sally L. Dunwoodie, Sau Wai Cheung, X Zhang, Jin Li, James R. Lupski, Guixing Qiu, Feng Zhang
出版 2015Artigo -
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Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations 由 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
出版 2012Artigo -
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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome 由 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
出版 2017Artigo -
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Treatment and long-term outcome in primary distal renal tubular acidosis 由 Sergio Camilo Lopez-Garcia, Francesco Emma, Stephen B. Walsh, Marc Fila, Nakysa Hooman, Marcin Zaniew, Aurélia Bertholet‐Thomas, Giacomo Colussi, Kathrin Burgmaier, Elena Levtchenko, Jyoti Sharma, Jyoti Singhal, Neveen A. Soliman, Gema Ariceta, Biswanath Basu, Luisa Murer, Velibor Tasić, А.Н. Цыгин, Stéphane Decramer, Helena Gil‐Peña, Linda Koster‐Kamphuis, Claudio La Scola, Jutta Gellermann, Martin Konrad, Marc R. Liliën, Telma Francisco, Despoina Tramma, Peter Trnka, Selçuk Yüksel, Rosa Caruso, Milan Chromek, Zelal Ekinci, Giovanni Gambaro, Jameela A. Kari, Jens König, Francesca Taroni, Julia Thumfart, Francesco Trepiccione, Louise Winding, Elke Wühl, Ayşe Ağbaş, А. Г. Белькевич, Rosa Vargas‐Poussou, Anne Blanchard, Giovanni Conti, Olivia Boyer, İsmail Dursun, Ayşe Seda Pınarbaşı, Engin Melek, Marius Miglinas, Robert Novo, Andrew Mallett, Danko Milošević, Maria Szczepańska, Sarah Wente, Hae Il Cheong, Rajiv Sinha, Zoran Gucev, Stephanie Dufek, Daniela Iancu, Amira Peco‐Antić, Amrit Kaur, Antonino Paglialunga, Aude Servais, Branko Lutovac, Ewout J. Hoorn, Hadas Shasha‐Lavsky, Jérôme Harambat, Astrid Godron-Dubrasquet, Kathrin Buder, Lise Allard, Ludwig Patzer, М.В. Шумихина, Matthias Hansen, Nikoleta Printza, Nuran Küçük, Ortraud Beringer, Rajendra Bhimma, Rimantė Čerkauskienė, Thomas J. Neuhaus, Valbona Stavileci, Tim Ulinski, Nida Dinçel, Nilufar Mohebbi, Robert Kleta, Franz Schaefer, Detlef Böckenhauer
出版 2018Artigo -
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Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux 由 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
出版 2021Artigo
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