Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Christoph J. Mache"'
Autor:
Mathilda Bedin, Olivia Boyer, Aude Servais, Yong Li, Laure Villoing-Gaudé, Marie-Josephe Tête, Alexandra Cambier, Julien Hogan, Veronique Baudouin, Saoussen Krid, Albert Bensman, Florie Lammens, Ferielle Louillet, Bruno Ranchin, Cecile Vigneau, Iseline Bouteau, Corinne Isnard-Bagnis, Christoph J. Mache, Tobias Schäfer, Lars Pape, Markus Gödel, Tobias B. Huber, Marcus Benz, Günter Klaus, Matthias Hansen, Kay Latta, Olivier Gribouval, Vincent Morinière, Carole Tournant, Maik Grohmann, Elisa Kuhn, Timo Wagner, Christine Bole-Feysot, Fabienne Jabot-Hanin, Patrick Nitschké, Tarunveer S. Ahluwalia, Anna Köttgen, Christian Brix Folsted Andersen, Carsten Bergmann, Corinne Antignac, Matias Simons
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 11 (2022)
Externí odkaz:
https://doaj.org/article/01f10fc3644d4890add9690ba176560b
Autor:
Aline Azabdaftari, Henrike L. Sczakiel, Magdalena Danyel, Benno Kohlmaier, Christoph J. Mache, Amelie Stalke, Eva‐Doreen Pfister, Julia Thumfart, Stephan Henning, A. S. Knisely, Philip Bufler
Publikováno v:
Liver International. 43:1089-1095
Autor:
Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism.
Context Kenny–Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the ph
Autor:
Heidi Schigt, Martin Bald, Bram C J van der Eerden, Lars Gal, Barnabas P Ilenwabor, Martin Konrad, Michael A Levine, Dong Li, Christoph J Mache, Sharon Mackin, Colin Perry, Francisco J Rios, Karl Peter Schlingmann, Ben Storey, Christine M Trapp, Annemieke J M H Verkerk, M Carola Zillikens, Rhian M Touyz, Ewout J Hoorn, Joost G J Hoenderop, Jeroen H F de Baaij
Publikováno v:
Journal of Clinical Endocrinology and Metabolism, 108, 7
This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670cbb8dceb90db560f97cbf60245182
https://repository.ubn.ru.nl/handle/2066/294291
https://repository.ubn.ru.nl/handle/2066/294291
Autor:
Marie-Josèphe Tête, Matthias Hansen, Florie Lammens, Tobias Schäfer, Albert Bensman, Alexandra Cambier, Tobias B. Huber, Christoph J. Mache, Elisa Kuhn, Christian Brix Folsted Andersen, Corinne Isnard-Bagnis, Tarunveer S. Ahluwalia, Günter Klaus, Mathilda Bedin, Fabienne Jabot-Hanin, Julien Hogan, Laure Villoing-Gaudé, Timo Wagner, Patrick Nitschke, Carole Tournant, Marcus R. Benz, Maik Grohmann, Markus Gödel, Aude Servais, Corinne Antignac, Cécile Vigneau, Ferielle Louillet, Christine Bole-Feysot, Véronique Baudouin, Iseline Bouteau, Lars Pape, Kay Latta, Carsten Bergmann, Yong Li, Vincent Morinière, Saoussen Krid, Olivier Gribouval, Olivia Boyer, Bruno Ranchin, Anna Köttgen, Matias Simons
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
Bedin, M, Boyer, O, Servais, A, Li, Y, Villoing-Gaudé, L, Tête, M J, Cambier, A, Hogan, J, Baudouin, V, Krid, S, Bensman, A, Lammens, F, Louillet, F, Ranchin, B, Vigneau, C, Bouteau, I, Isnard-Bagnis, C, MacHe, C J, Schäfer, T, Pape, L, Gödel, M, Huber, T B, Benz, M, Klaus, G, Hansen, M, Latta, K, Gribouval, O, Morinière, V, Tournant, C, Grohmann, M, Kuhn, E, Wagner, T, Bole-Feysot, C, Jabot-Hanin, F, Nitschké, P, Ahluwalia, T S, Köttgen, A, Andersen, C B F, Bergmann, C, Antignac, C & Simons, M 2020, ' Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function ', Journal of Clinical Investigation, vol. 130, no. 1, pp. 335-344 . https://doi.org/10.1172/JCI129937
Journal of Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
Bedin, M, Boyer, O, Servais, A, Li, Y, Villoing-Gaudé, L, Tête, M J, Cambier, A, Hogan, J, Baudouin, V, Krid, S, Bensman, A, Lammens, F, Louillet, F, Ranchin, B, Vigneau, C, Bouteau, I, Isnard-Bagnis, C, MacHe, C J, Schäfer, T, Pape, L, Gödel, M, Huber, T B, Benz, M, Klaus, G, Hansen, M, Latta, K, Gribouval, O, Morinière, V, Tournant, C, Grohmann, M, Kuhn, E, Wagner, T, Bole-Feysot, C, Jabot-Hanin, F, Nitschké, P, Ahluwalia, T S, Köttgen, A, Andersen, C B F, Bergmann, C, Antignac, C & Simons, M 2020, ' Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function ', Journal of Clinical Investigation, vol. 130, no. 1, pp. 335-344 . https://doi.org/10.1172/JCI129937
Journal of Clinical Investigation, 2020, 130 (1), pp.335-344. ⟨10.1172/JCI129937⟩
International audience; BACKGROUNDProteinuria is considered an unfavorable clinical condition that accelerates renal and cardiovascular disease. However, it is not clear whether all forms of proteinuria are damaging. Mutations in CUBN cause Imerslund
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5e56a3b0812f91e03721198759a655
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02445305
https://hal-univ-rennes1.archives-ouvertes.fr/hal-02445305
Autor:
Chantal Loirat, Gema Ariceta, Gianluigi Ardissino, Galina Generolova, Anne-Laure Lapeyraque, Christoph Gasteyger, Donata Cresseri, Åsa Lommelé, Franz Schaefer, Johan Vande Walle, Marie Scully, Lisa Sartz, Leena Martola, Daniel Landau, Patricia Hirt-Minkowski, Natalya Lvovna Kozlovskaya, Nicholas J.A. Webb, Michal Malina, Nicole M. Isbel, Eric Rondeau, Andrew M. Siedlecki, Larry A. Greenbaum, Masayo Ogawa, Fadi Fakhouri, Varant Kupelian, Christoph Licht, Annick Massart, Véronique Frémeaux-Bacchi, M. Blasco, Sally Johnson, Christoph J. Mache
Publikováno v:
Kidney International. 94:408-418
Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The Global aHUS Registry collects real-world data on the natural history of the disease. Here we characterize end-stage renal disease (ESRD)-free survival, the ra
Autor:
Holger Hubmann, Berndt Urlesberger, Mirjam Pocivalnik, B Acham-Roschitz, Christoph J. Mache, Martin Häusler, M Bruckner
Publikováno v:
Zeitschrift für Geburtshilfe und Neonatologie.
Autor:
Séverine Bär, Anne Boland, Hélène Blanché, Steven McGinn, Dominique Martin-Coignard, Katja Kloth, Hélène Dollfus, Elise Schaefer, Corinne Stoetzel, Anne-Sophie Leuvrey, Sophie Scheidecker, Günter Klaus, Jean Muller, Jean-François Deleuze, Eva Decker, Véronique Geoffroy, Charline Henry, Christoph J. Mache, Manuela Antin, Carsten Bergmann, Marion Delbarre, Ariane Kröll, Jean-Michel Rozet, Sylvie Friant, Isabelle Perrault, Sophie Saunier
Publikováno v:
Human Mutation. 39:983-992
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using
Autor:
Chantal Loirat, Gianluigi Ardissino, Franz Schaefer, Lisa Sartz, Anne-Laure Lapeyraque, Andrew M. Siedlecki, Miquel Blasco, Leena Martola, Daniel Landau, Masayo Ogawa, Véronique Frémeaux-Bacchi, Sally Johnson, Gema Ariceta, Michal Malina, Johan Vande Walle, Galina Generolova, Christoph J. Mache, David J. Cohen, Nicole M. Isbel, Fadi Fakhouri, Patricia Hirt-Minkowski, Christoph Gasteyger, Annick Massart, Eric Rondeau, Nicholas J.A. Webb, Jennifer James Eggleston, Larry A. Greenbaum, Natalya Lvovna Kozlovskaya, Marie Scully, Christoph Licht, Leonard Woodward, Donata Cresseri
Publikováno v:
KIDNEY INTERNATIONAL REPORTS
Kidney International Reports
Kidney International Reports
Introduction Recurrence of atypical hemolytic uremic syndrome (aHUS) in renal allografts is common, leading to dialysis and graft failure. Pretransplant versus posttransplant initiation of eculizumab treatment in patients with aHUS has not been rigor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da58c29591dc495c7a8e57995587a82
https://biblio.ugent.be/publication/8605450
https://biblio.ugent.be/publication/8605450
Publikováno v:
Pediatric Urogenital Radiology ISBN: 9783319392004
Many children who suffer from congenital, hereditary, or severe acquired renal disease have a substantially diminished number of functioning nephrons. Loss of nephrons cannot be replaced by new units, and recovery is impossible. Consequently, accordi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cf13186dd33b7717e40b54f002155f3
https://doi.org/10.1007/978-3-319-39202-8_34
https://doi.org/10.1007/978-3-319-39202-8_34