檢索結果 - Kálmán Tory

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  1. 1
    Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

    Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome 由 Kálmán Tory, Dóra K. Menyhárd, Stéphanie Woerner, Fabien Névo, Olivier Gribouval, Andrea Kerti, Pál Stráner, Christelle Arrondel, Evelyne Huynh Cong, Tivadar Tulassay, Géraldine Mollet, András Perczel, Corinne Antignac

    出版 2014
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    Carta
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  2. 2
    Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations

    Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations 由 Jonathan Hall, Marta Cortón, Fabian N. Fries, Jessica Obst, C Grünauer-Kloevekorn, Berthold Seitz, Maria della Volpe Waizel, Eszter Jávorszky, Kálmán Tory, Erika Maka, Maryam Amini, Shweta Suiwal, Tanja Stachon, Nóra Szentmáry

    出版 2025
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    Revisão
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  3. 3
    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis 由 Kálmán Tory, Caroline Rousset‐Rouvière, Marie‐Claire Gubler, Vincent Morinière, Audrey Pawtowski, C. Becker, C. Guyot, Sophie Gié, Yaacov Frishberg, Hubert Nivet, Georges Deschênes, Pierre Cochat, Marie‐France Gagnadoux, Sophie Saunier, Corinne Antignac, Rémi Salomon

    出版 2009
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    Artigo
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  4. 4
    Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

    Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) 由 Edgar A. Otto, Kálmán Tory, Massimo Attanasio, Weibin Zhou, Moumita Chaki, Yasaswi Paruchuri, Eric L. Wise, M T F Wolf, Boris Utsch, C. Becker, Gudrun Nürnberg, Peter Nürnberg, Ahmet Nayır, Sophie Saunier, Corinne Antignac, Friedhelm Hildebrandt

    出版 2009
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    Artigo
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  5. 5
    Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance

    Activating HSP72 in Rodent Skeletal Muscle Increases Mitochondrial Number and Oxidative Capacity and Decreases Insulin Resistance 由 Darren C. Henstridge, Clinton R. Bruce, Brian G. Drew, Kálmán Tory, Attila Kolonics, Emma Estévez, Jason Chung, Nadine Watson, Timothy B. Gardner, Robert S. Lee, Timothy Connor, Matthew J. Watt, Kevin Carpenter, Mark Hargreaves, Sean L. McGee, Andrea L. Hevener, Mark A. Febbraio

    出版 2014
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    Artigo
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  6. 6
    Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype

    Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: Correlations with phenotype 由 Fan Chen, Takeshi Kishida, Masahiro Yao, Thomas Hustad, Damjan Glavač, Michael Dean, James R. Gnarra, Mary Lou Orcutt, Fuh Mei Duh, G.M. Glenn, Jane Green, Y. Edward Hsia, James M. Lamiell, Hua Li, Ming Wei, Laura S. Schmidt, Kálmán Tory, Igor Kuzmin, Tom Stackhouse, Farida Latif, W. Marston Linehan, Michael I. Lerman, Berton Zbar

    出版 1995
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    Artigo
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  7. 7
    Genotype–phenotype associations in WT1 glomerulopathy

    Genotype–phenotype associations in WT1 glomerulopathy 由 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

    出版 2014
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    Artigo
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  8. 8
    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

    Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans 由 Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney‐Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna Lehman, Peter Trnka, Patrick Nitschké, Christine Bôle‐Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter Scambler, Shing H. Zhan, Steven J.M. Jones, Hülya Kayserili, Beyhan Tüysüz, Khemchand N Moorani, Alexandru R. Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt

    出版 2013
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    Artigo
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  9. 9
    Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis

    Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis 由 Eszter Balogh, Jennifer C. Chandler, Máté Varga, Mona Tahoun, Dóra K. Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Böckenhauer, Andrea Kerti, Hywel Williams, Veronica A. Kinsler, Wei‐Li Di, David Curtis, Maria Kolatsi‐Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felipe D’Arco, Marios Kaliakatsos, Jutta Köeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H. Saied, Salah Marzouk, Kata Kelen, Judit Götze, György Reusz, Tivadar Tulassay, François Dragon, Géraldine Mollet, Susanne Motameny, Hölger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J. Szabó, David A. Long, Kazunori Tomita, Corinne Antignac, Aoife Waters, Kálmán Tory

    出版 2020
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    Artigo
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  10. 10
    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

    The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies 由 Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry, Emilie Filhol, Yoann Martin, Marina Avramescu, Maxime Douillet, Vincent Morinière, Pauline Krug, Marc Jeanpierre, Kálmán Tory, Olivia Boyer, Anita Burgun, Aude Servais, Rémi Salomon, Alexandre Benmerah, Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Mohamad Zaidan, Sophie Saunier, Tania Attié‐Bitach, Valerie Comier-Daire, Jean‐Michel Rozet, Yaacov Frishberg, Brigitte Llanas, M. Broyer, Nabil Mohsin, Marie‐Alice Macher, Nicole Philip, Véronique Baudouin, D. Brackman, Chantal Loirat, Marina Charbit, Maud Dehennault, C. Guyot, Pierre Bataille, Mariet Elting, Georges Deschênes, Andrea Gropman, Geneviève Guest, Marie‐France Gagnadoux, Philippe Nicoud, Pierre Cochat, Bruno Ranchin, A Bensman, Anne‐Marie Guerrot, Bertrand Knebelmann, İlmay Bilge, Bruno Daniele, Stéphane Burtey, Caroline Rousset Rouvière, Valérie Caudwell, Denis Morin, Hélène Dollfus, Anne Maisin, Christian Hamel, Éric Bieth, Sophie Gié, Judith Goodship, G. Roussey, Hermine La Selve, Hubert Nivet, Lucie Bessenay, Mathilde Caillez, Jean Bernard Palcoux, Stéphane L. Benoit, Philippe Dubot, Marc Fila, Fabienne Giuliano, Daouya Iftene, M. Kessler, Thérèsa Kwon, A. Lahoche, Audrey Laurent, Anne-Laure Leclerc, David V. Milford, Thomas J. Neuhaus, Sylvie Odent, Philippe Eckart, Dominique Chauveau, Patrick Niaudet, Horacio A. Repetto, Sophie Taque, Alexandra Bruel, Alexandra Noel-Botte, Emma Allain Launay, Lisa Allard, Dany Anlicheau, Anne-Laure Adra, Arnaud Garnier, Arvind Nagra, Remy Baatard, Justine Bacchetta, Banu Sadıkoğlu, Christine Barnérias, Anne Barthélémy, Lina Basel, Nader Bassilios

    出版 2023
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    Artigo
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