检索结果 - Julia Hoefele

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  1. 1
    Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

    Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies 由 Moumita Chaki, Julia Hoefele, Susan J. Allen, Gokul Ramaswami, Sabine Janssen, Carsten Bergmann, John R. Heckenlively, Edgar A. Otto, Friedhelm Hildebrandt

    出版 2011
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  2. 2
    Lifelong effect of therapy in young patients with the <i>COL4A5</i> Alport missense variant p.(Gly624Asp): a prospective cohort study

    Lifelong effect of therapy in young patients with the <i>COL4A5</i> Alport missense variant p.(Gly624Asp): a prospective cohort study 由 Jan Boeckhaus, Julia Hoefele, Korbinian M. Riedhammer, Mato Nagel, Bodo B. Beck, Mira Choi, Maik Gollasch, Carsten Bergmann, Joseph Sonntag, Victoria Troesch, Johanna Stock, Oliver Groß

    出版 2022
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  3. 3
    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis

    Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis 由 Pawaree Saisawat, Velibor Tasić, Virginia Vega-Warner, Elijah O. Kehinde, Barbara Günther, Rannar Airik, Jeffrey W. Innis, Bethan E. Hoskins, Julia Hoefele, Edgar A. Otto, Friedhelm Hildebrandt

    出版 2011
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  4. 4
    Evidence of Oligogenic Inheritance in Nephronophthisis

    Evidence of Oligogenic Inheritance in Nephronophthisis 由 Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole, Edgar A. Otto, Ulla T. Schultheiß, Georges DeCombining Circumflex Accentschenes, Massimo Attanasio, Boris Utsch, Corinne Antignac, Friedhelm Hildebrandt

    出版 2007
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  5. 5
    A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

    A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution 由 Edgar A. Otto, Julia Hoefele, Rainer Ruf, Adelheid M. Mueller, Karl S. Hiller, Matthias T. F. Wolf, Maria J. Schuermann, Achim Becker, Ralf Birkenhäger, Ralf Sudbrak, Hans Christian Hennies, Peter Nürnberg, Friedhelm Hildebrandt

    出版 2002
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  6. 6
    Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome

    Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid–Resistant Nephrotic Syndrome 由 Anja Büscher, Bodo B. Beck, Anette Melk, Julia Hoefele, Birgitta Kranz, Daniel Bamborschke, Sabrina Baig, Bärbel Lange-Sperandio, Theresa Jungraithmayr, Lutz T. Weber, Markus J. Kemper, Burkhard Tönshoff, Peter F. Hoyer, Martin Konrad, Stefanie Weber

    出版 2015
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  7. 7
    Expert consensus guidelines for the genetic diagnosis of Alport syndrome

    Expert consensus guidelines for the genetic diagnosis of Alport syndrome 由 Judy Savige, Francesca Ariani, Francesca Mari, Mirella Bruttini, Alessandra Renieri, Oliver Groß, Constantinos Deltas, Frances Flinter, Jie Ding, Daniel P. Gale, Mato Nagel, Michael Yau, Lev Shagam, Roser Torrá, Elisabet Ars, Julia Hoefele, Guido Garosi, Helen Storey

    出版 2018
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  8. 8
    Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

    Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease 由 Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle, Andreas Venghaus, Valeska Frank, Henry Fehrenbach, Tobias Hampel, Lars Pape, Annegret Buske, Jón J. Jónsson, Nanette Sarioglu, Antónia Santos, José Carlos Ferreira, Jan U. Becker, Reinhold Cremer, Julia Hoefele, Marcus R. Benz, Lutz T. Weber, Reinhard Buettner, Klaus Zerres

    出版 2011
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  9. 9
    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

    KANK deficiency leads to podocyte dysfunction and nephrotic syndrome 由 Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E. Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun‐yi Zhu, Julia Hoefele, Lutz T. Weber, Ľudmila Podracká, A Böör, Henry Fehrenbach, Jeffrey W. Innis, Joseph Washburn, Shawn Levy, Richard P. Lifton, Edgar A. Otto, Zhe Han, Friedhelm Hildebrandt

    出版 2015
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  10. 10
    Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

    Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination 由 Edgar A. Otto, Bernhard Schermer, Tomoko Obara, John F. O’Toole, Karl S. Hiller, Adelheid M. Mueller, Rainer Ruf, Julia Hoefele, Frank Beekmann, Daniel Landau, John W. Foreman, Judith A. Goodship, Tom Strachan, Andreas Kispert, Matthias T. F. Wolf, M. F. Gagnadoux, Hubert Nivet, Corinne Antignac, Gerd Walz, Iain A. Drummond, Thomas Benzing, Friedhelm Hildebrandt

    出版 2003
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  11. 11
    The 2019 and 2021 International Workshops on Alport Syndrome

    The 2019 and 2021 International Workshops on Alport Syndrome 由 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

    出版 2022
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  12. 12
    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset

    Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset 由 Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, Theresa Brunet, Matias Wagner, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Ján Necpál, David Weise, Sandrina Weber, Brit Mollenhauer, Claudia Trenkwalder, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Annette Hackenberg, Veronika Pilshofer, Urania Kotzaeridou, Eva Maria Christina Schwaibold, Julia Hoefele, Mélanie Waldenberger, Christian Gieger, Annette Peters, Thomas Meitinger, Barbara Schormair, Juliane Winkelmann, Konrad Oexle

    出版 2021
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  13. 13
    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

    ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling 由 Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W. Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B. Beck, Olivier Gribouval, Weibin Zhou, Katrina A. Diaz, S. Natarajan, Roger C. Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S. Schoeb, Buğsu Övünç, Yaacov Frishberg, Neveen A. Soliman, Hanan Fathy, Heike Goebel, Julia Hoefele, Lutz T. Weber, Jeffrey W. Innis, Christian Faul, Zhe Han, Joseph Washburn, Corinne Antignac, Shawn Levy, Edgar A. Otto, Friedhelm Hildebrandt

    出版 2013
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  14. 14
    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center 由 Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matěj Škorvánek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, A. Sebastian Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner

    出版 2021
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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 由 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

    出版 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 由 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

    出版 2021
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  17. 17
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome 由 Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    出版 2020
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  18. 18
    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency 由 Stefano Vavassori, Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset, Christopher Fraser, Seraina Prader, Xianfei Gao, Luise A. Schuch, Matias Wagner, Julia Hoefele, Maria Elena Maccari, Ying Zhu, George Elakis, Michael T. Gabbett, Maria Forstner, Heymut Omran, Thomas Kaiser, Christina Keßler, Heike Olbrich, Patrick Frosk, Abduarahman Almutairi, Craig D. Platt, Megan Elkins, Sabrina Weeks, Tamar Rubin, Raquel Planas, Tommaso Marchetti, Danil Koovely, Verena Klämbt, Neveen A. Soliman, Sandra von Hardenberg, Christian Klemann, Ulrich Baumann, Dominic Lenz, Andreas Klein‐Franke, Martin Schwemmle, Michael Huber, Ekkehard Sturm, Steffen Hartleif, Karsten Häffner, Charlotte Gimpel, Barbara Brotschi, Guido F. Laube, Tayfun Güngör, Michael F. Buckley, Raimund Kottke, Christian Staufner, Friedhelm Hildebrandt, Simone Reu‐Hofer, Solange Moll, Achim Weber, Hundeep Kaur, Stephan Ehl, Sebastian Hiller, Raif S. Geha, Tony Roscioli, Matthias Griese, Jana Pachlopnik Schmid

    出版 2021
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  19. 19
    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 由 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

    出版 2022
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  20. 20
    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 由 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

    出版 2022
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