Výsledky vyhledávání - Beata S. Lipska‐Ziętkiewicz

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  1. 1
    Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

    Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry Autor Agnes Trautmann, Beata S. Lipska‐Ziętkiewicz, Franz Schaefer

    Vydáno 2018
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  2. 2
    Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group

    Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet–ESPN inherited glomerulopathy working group Autor Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Tuula Hölttä, Detlef Böckenhauer, Sandra Bérody, Elena Levtchenko, Marina Vivarelli, Hazel Webb, Dieter Haffner, Franz Schaefer, Olivia Boyer

    Vydáno 2020
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  3. 3
    Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group

    Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group Autor Olivia Boyer, Franz Schaefer, Dieter Haffner, Detlef Böckenhauer, Tuula Hölttä, Sandra Bérody, Hazel Webb, Marie Heselden, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Elena Levtchenko, Marina Vivarelli

    Vydáno 2021
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  4. 4
    Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

    Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice Autor Nine V.A.M. Knoers, Corinne Antignac, Carsten Bergmann, Karin Dahan, Sabrina Giglio, Laurence Heidet, Beata S. Lipska‐Ziętkiewicz, Marina Noris, Giuseppe Remuzzi, Rosa Vargas‐Poussou, Franz Schaefer

    Vydáno 2021
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  5. 5
    Digenic Alport Syndrome

    Digenic Alport Syndrome Autor Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, H. Rothe, Daniel P. Gale, Marina Aksenova, Agnė Čerkauskaitė, Olga Bielska, Beata S. Lipska‐Ziętkiewicz, Joel T. Gibson

    Vydáno 2022
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  6. 6
    ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

    ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS Autor Emine Korkmaz, Beata S. Lipska‐Ziętkiewicz, Olivia Boyer, Olivier Gribouval, Cécile Fourrage, Mansoureh Tabatabaei, Sven Schnaidt, Şafak Güçer, Figen Kaymaz, Mustafa Arıcı, Ayhan Dinçkan, Sevgı Mır, Aysun Karabay Bayazıt, Sevinç Emre, Ayşe Balat, Lesley Rees, Rukshana Shroff, Carsten Bergmann, Chebl Mourani, Corinne Antignac, Fatih Özaltın, Franz Schaefer

    Vydáno 2015
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  7. 7
    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

    <i>NPHS2</i>Mutations in Steroid-Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum Autor Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Névo, Evelyne Huynh-Cong, Vincent Morinière, Raphaëlle Campait, Elisabet Ars, Damien Brackman, Jacques Dantal, Philippe Eckart, Maddalena Gigante, Beata S. Lipska‐Ziętkiewicz, A. Liutkus, André Mégarbané, Nabil Mohsin, Fatih Özaltın, Moin A. Saleem, Franz Schaefer, Kenza Soulami, Roser Torrá, Nicolas Garcelon, Géraldine Mollet, Karin Dahan, Corinne Antignac

    Vydáno 2013
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  8. 8
    Genotype–phenotype associations in WT1 glomerulopathy

    Genotype–phenotype associations in WT1 glomerulopathy Autor Beata S. Lipska‐Ziętkiewicz, Bruno Ranchin, Paraskevas Iatropoulos, Jutta Gellermann, Anette Melk, Fatih Özaltın, Gianluca Caridi, Tomáš Seeman, Kálmán Tory, Augustina Jankauskiené, Aleksandra Żurowska, Maria Szczepańska, Anna Wasilewska, Jérôme Harambat, Agnes Trautmann, Amira Peco‐Antić, Halina Borzęcka, Anna Moczulska, Bassam Saeed, Radovan Bogdanović, Mukaddes Kalyoncu, Eva Šimková, Özlem Erdoğan, Kristina Vrljičak, Ana Teixeira, Marta Azócar, Franz Schaefer

    Vydáno 2014
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  9. 9
    The 2019 and 2021 International Workshops on Alport Syndrome

    The 2019 and 2021 International Workshops on Alport Syndrome Autor Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata S. Lipska‐Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P. Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torrá, Jeff H. Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, André Weinstock, Bertrand Knebelmann, Agnė Čerkauskaitė, Susie Gear, Oliver Groß, Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri

    Vydáno 2022
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  10. 10
    Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

    Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife Autor Aleksandra Żurowska, Olga Bielska, Patrycja Daca‐Roszak, Maciej Jankowski, Maria Szczepańska, Dagmara Roszkowska-Bjanid, Elżbieta Kuźma-Mroczkowska, Małgorzata Pańczyk-Tomaszewska, Anna Moczulska, Dorota Drożdż, Despina Hadjipanagi, Constantinos Deltas, Danuta Ostalska‐Nowicka, Alina Rabiega, Janina Taraszkiewicz, Katarzyna Taranta‐Janusz, Anna Wieczorkiewicz-Płaza, Katarzyna Jobs, Judyta Mews, Kinga Musiał, Anna Jakubowska, Hanna Nosek, Anna Jander, Constantina Koutsofti, Anna Stanisławska‐Sachadyn, Dominka Kuleszo, Ewa Ziętkiewicz, Beata S. Lipska‐Ziętkiewicz

    Vydáno 2020
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  11. 11
    Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children

    Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children Autor Agnes Trautmann, Monica Bodria, Fatih Özaltın, Alaleh Gheisari, Anette Melk, Marta Azócar, Ali Anarat, Salim Çalışkan, Francesco Emma, Jutta Gellermann, Jun Oh, Esra Baskın, Joanna Książek, Giuseppe Remuzzi, Özlem Erdoğan, Sema Akman, Ladislav Dušek, Tinatin Davitaia, Ozan Özkaya, Fotiοs Papachristou, Piotr Adamczyk, Tomasz Urasiński, Sara Testa, Rafael T. Krmar, Lidia Hyla‐Klekot, Andrea Pasini, Zeynep Birsin Özçakar, P. Sallay, Nilgün Çakar, Mónica Galanti, Joëlle Terzic, Bilal Aoun, Alberto Caldas Afonso, Hanna Szymanik-Grzelak, Beata S. Lipska‐Ziętkiewicz, Sven Schnaidt, Franz Schaefer

    Vydáno 2015
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  12. 12
    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy Autor Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M. Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset‐Rouvière, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna-­Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Vydáno 2022
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  13. 13
    Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

    Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency Autor Stefania Drovandi, Beata S. Lipska‐Ziętkiewicz, Fatih Özaltın, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M. Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L. Stenton, А.Н. Цыгин, Kar Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F. Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun, Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz–Chmielewska, Marc Fila, Anne M. Durkan, Tanja Kersnik Levart, İsmail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R. Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, Franz Schaefer, Sergey Baiko, Lina María Serna‐Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska‐Ziętkiewicz, Irena Bałasz–Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzęcka, А.Н. Цыгин, Larisa Prikhodina, Radovan Bogdanović, Ali Anarat, Fatih Özaltın, Sevgı Mır, Svitlana Fomina, Thomas Klopstock, Holger Prokisch, Cornelia Kornblum, Hong Xu, Qian Shen, Jia Rao, Cuihua Liu, Shuzhen Sun, Fang Deng, Yang Dong, Xiaowen Wang, Jiangwei Luan

    Vydáno 2022
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  14. 14
    Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

    Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children Autor Agnes Trautmann, Sven Schnaidt, Beata S. Lipska‐Ziętkiewicz, Monica Bodria, Fatih Özaltın, Francesco Emma, Ali Anarat, Anette Melk, Marta Azócar, Jun Oh, Bassam Saeed, Alaleh Gheisari, Salim Çalışkan, Jutta Gellermann, Lina María Serna‐Higuita, Augustina Jankauskiené, Dorota Drożdż, Sevgı Mır, Ayşe Balat, Maria Szczepańska, Dušan Paripović, Aleksandra Żurowska, Radovan Bogdanović, Alev Yılmaz, Bruno Ranchin, Esra Baskın, Özlem Erdoğan, Giuseppe Remuzzi, Piotr Adamczyk, Elżbieta Kuźma-Mroczkowska, Mieczysław Litwin, Luisa Murer, Marcin Tkaczyk, Helena Jardim, Anna Wasilewska, Nikoleta Printza, Kibriya Fidan, Eva Šimková, Halina Borzęcka, Hagen Staude, Katharina Hees, Franz Schaefer

    Vydáno 2017
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  15. 15
    Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

    Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria Autor Judy Savige, Helen Storey, E. Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, H. Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuševa Martić, Asheeta Gupta, Albertien M. van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al‐Rabadi, Kathleen Claes, Anniek Corveleyn, Elke Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierżyńska, Concetta Gangemi, Beata S. Lipska‐Ziętkiewicz

    Vydáno 2021
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  16. 16
    Guidelines for Genetic Testing and Management of Alport Syndrome

    Guidelines for Genetic Testing and Management of Alport Syndrome Autor Judy Savige, Beata S. Lipska‐Ziętkiewicz, E. Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlína Plevová, Peter H. Byers, Agnė Čerkauskaitė, Martin C. Gregory, Rimantė Čerkauskienė, Danica Galešić Ljubanović, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, H. Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuševa Martić, Asheeta Gupta, Albertien M. van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al‐Rabadi, Kathleen Claes, Anniek Corveleyn, Elke Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierżyńska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter

    Vydáno 2021
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  17. 17
    Genetic screening in adolescents with steroid-resistant nephrotic syndrome

    Genetic screening in adolescents with steroid-resistant nephrotic syndrome Autor Beata S. Lipska‐Ziętkiewicz, Paraskevas Iatropoulos, Ramona Maranta, Gianluca Caridi, Fatih Özaltın, Ali Anarat, Ayşe Balat, Jutta Gellermann, Agnes Trautmann, Özlem Erdoğan, Bassam Saeed, Sevinç Emre, Radovan Bogdanović, Marta Azócar, Irena Bałasz–Chmielewska, Elisa Benetti, Salim Çalışkan, Sevgı Mır, Anette Melk, Pelin Ertan, Esra Baskın, Helena Jardim, Tinatin Davitaia, Anna Wasilewska, Dorota Drożdż, Maria Szczepańska, Augustina Jankauskiené, Lina María Serna‐Higuita, Gianluigi Ardissino, Ozan Özkaya, Elżbieta Kuźma-Mroczkowska, Oğuz Söylemezoğlu, Bruno Ranchin, Anna Medyńska, Marcin Tkaczyk, Amira Peco‐Antić, İpek Akil, Tomasz Jarmoliński, Piotr Adamczyk, Ladislav Dušek, Giacomo D. Simonetti, Faysal Gök, Alaleh Gheissari, Francesco Emma, Rafael T. Krmar, Michel Fischbach, Nikoleta Printza, Eva Šimková, Caterina Mele, Gian Marco Ghiggeri, Franz Schaefer

    Vydáno 2013
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  18. 18
    Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

    Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference Autor Anna Köttgen, Émilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Böckenhauer, Olivier Devuyst, José C. Florez, Kevin Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Groß, Lisa M. Guay‐Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V.A.M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska‐Ziętkiewicz, Kathy Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna‐Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Suszták, Bamidele O. Tayo, Roser Torrá, Albertien M. van Eerde, André Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer­, Ali G. Gharavi

    Vydáno 2022
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  19. 19
    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

    Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome Autor Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, H. Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska‐Ziętkiewicz, Melanie Chan, Omid Sadeghi‐Alavijeh, Daniel P. Gale, J. C. Ambrose, P. Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, C. E. H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, R. E. Foulger, Tom Fowler, Pedro Furió‐Tarí, A. Giess, J. M. Hackett, Dina Halai, Angela Hamblin, S. A. Henderson, J. E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, L. J. Jones, D. Kasperaviciute, Melis Kayikci, A. Kousathanas, L. Lahnstein, Kim Lawson, S. E. A. Leigh, Ivone Leong, F. J. Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Chris A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. R. Smith, S. C. Smith, Alona Sosinsky, W. Spooner, H. E. Stevens, Alexander Stuckey, Razia Sultana Mohammad, M. Tanguy, Elaine Thomas, S. R. Thompson, Carolyn Tregidgo, Arianna Tucci, Edward E. Walsh, S. A. Watters, M. J. Welland, Eric O. Williams, Kate Witkowska, S. M. Wood, Magdalena Zarowiecki, Agnė Čerkauskaitė, Judy Savige

    Vydáno 2022
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