Zobrazeno 1 - 10
of 1 349
pro vyhledávání: '"Jeanpierre, C."'
Autor:
Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Nguyen TT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye., Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Li Y; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Assia Batzir N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Saygılı S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Wimmers V; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Kim GJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany., Chrysanthou M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Bakey Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Sofrin-Drucker E; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Rathkolb B; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany., Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Hölter SM; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany., Seisenberger C; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Haug S; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Schlosser P; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA., Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany; Deutsches Institut für Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, Germany., Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Wuttke M; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Hrabe de Angelis M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany; German Center for Diabetes Research (DZD), Neuherberg, Germany; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, Germany., Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Akgün Doğan Ö; Department of Pediatrics, Division of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, School of Medicine, Istanbul, Türkiye., Özlük Y; Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye., Taşdemir M; Department of Pediatric Nephrology, Istinye University Faculty of Medicine, Istanbul, Türkiye., Ağbaş A; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Çalışkan S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Weber RG; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany; Department of Medicine IV, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Jeanpierre C; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France., Saunier S; Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris Cité, INSERM UMR 1163, Paris, France., Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA., Hildebrandt F; Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Basel-Salmon L; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel; Felsenstein Medical Research Center, Petah Tikva, Israel., Borovitz Y; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Institute of Nephrology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel., Wu K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Antony D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Matschkal J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Schaaf CW; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Rogg M; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Schell C; Institute of Surgical Pathology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany., Köttgen A; Institute of Genetic Epidemiology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany., Arnold SJ; Institute of Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany., Ozaltin F; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Türkiye; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Nephrogenetics Laboratory, Hacettepe University Faculty of Medicine, Sihhiye, Ankara, Türkiye; Center for Genomics and Rare Diseases, Hacettepe University, Sihhiye, Ankara, Türkiye. Electronic address: fozaltin@hacettepe.edu.tr., Schmidts M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; Center for Pediatrics and Adolescent Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, Freiburg, Germany. Electronic address: miriam.schmidts@uniklinik-freiburg.de., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, TUM School of Medicine and Health, Munich, Germany. Electronic address: julia.hoefele@tum.de.
Publikováno v:
Kidney international [Kidney Int] 2024 Apr; Vol. 105 (4), pp. 844-864. Date of Electronic Publication: 2023 Dec 26.
Autor:
Jordan P; APHP Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Dorval G; APHP Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France.; APHP Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Universitaire Necker-Enfants Malades, Paris, France., Arrondel C; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France., Morinière V; APHP Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Tournant C; APHP Service de Génétique, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Audrezet MP; Service de Génétique moléculaire, Génétique, Génomique et Biotechnologies, UMR 1078, Hôpital Universitaire de Brest, Brest, France., Michel-Calemard L; Service Biochimie Biologie Moléculaire Grand Est, Hospices Civils de Lyon, Groupement Hospitalier Est, CBPE, Bron, France., Putoux A; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France., Labalme A; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, Bron, France., Whalen S; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France., Loeuillet L; APHP Service d'Embryofœtopathologie, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Martinovic J; APHP Service de Fœtopathologie, Hôpital Universitaire Antoine Béclère, Clamart, France., Attie-Bitach T; APHP Service d'Embryofœtopathologie, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Inserm U 1163, Institut Imagine, Université de Paris, Paris, France., Bessières B; APHP Service d'Embryofœtopathologie, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Inserm U 1163, Institut Imagine, Université de Paris, Paris, France., Schaefer E; Service de Génétique Médicale, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Scheidecker S; Service de Génétique Médicale, Institut de Génétique médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Lambert L; Service de Génétique Médicale, Centre Hospitalier Régional Universitaire de Nancy, Nancy, France., Beneteau C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Patat O; Service de Génétique Médicale, Centre Hospitalier Universitaire de Toulouse, Toulouse, France., Boute-Benejean O; Service de Génétique Médicale, Hôpital Jeanne de Flandre, Centre Hospitalier Universitaire de Lille, Lille, France., Molin A; Service de Génétique Médicale, Centre Hospitalier Universitaire de Caen, Caen, France., Guimiot F; APHP Service d'Embryo-Fœtopathologie, Hôpital Universitaire Robert Debré, Paris, France., Fontanarosa N; Service de Gynécologie, Centre Hospitalier de Grasse, Grasse, France., Nizon M; Service de Génétique Médicale, CHU Nantes, L'institut Du Thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Lefebvre M; APHP Service de Pathologie fœtale, Hôpital Universitaire Armand Trousseau, Paris, France., Jeanpierre C; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France., Saunier S; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France., Heidet L; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires Institut Imagine, Université de Paris, Paris, France.; APHP Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Publikováno v:
Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 347-361. Date of Electronic Publication: 2022 Jan 10.
Autor:
Petzold F; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France; Division of Nephrology, Department of Endocrinology, Nephrology, and Rheumatology, University Hospital Leipzig, Leipzig, Germany., Billot K; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Chen X; Université de Paris, Imagine Institute, Data Science Platform, INSERM UMR 1163, Paris, France; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France., Henry C; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Filhol E; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Martin Y; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Avramescu M; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France; Department of Pediatry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Douillet M; Université de Paris, Imagine Institute, Data Science Platform, INSERM UMR 1163, Paris, France; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France., Morinière V; Assistance Publique des Hôpitaux de Paris (AP-HP), Génétique Moléculaire, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Krug P; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France; Department of Pediatry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Jeanpierre C; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Tory K; Ist Department of Pediatrics, Semmelweis University, Budapest, Hungary., Boyer O; Department of Pediatry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, AP-HP, Université de Paris, Paris, France., Burgun A; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France; Department of Medical Informatics, Hôpital Necker-Enfants Malades, AP-HP, Paris, France; PaRis Artificial Intelligence Research InstitutE (PRAIRIE), Paris, France., Servais A; Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, AP-HP, Université de Paris, Paris, France., Salomon R; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France; Department of Pediatry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Benmerah A; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Heidet L; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France; Department of Pediatry, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Nephrology and Transplantation Department, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Necker Hospital, AP-HP, Université de Paris, Paris, France., Garcelon N; Université de Paris, Imagine Institute, Data Science Platform, INSERM UMR 1163, Paris, France; Centre de Recherche des Cordeliers, Sorbonne Université, INSERM, Université de Paris, Paris, France., Antignac C; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France., Zaidan M; Service de Néphrologie et Transplantation, Assistance Publique des Hôpitaux de Paris (AP-HP), Université Paris-Saclay, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France; Centre de Compétence Maladies Rares « Syndrome Néphrotique Idiopathique », Hôpital de Bicêtre, Le Kremlin-Bicêtre, France., Saunier S; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Paris, France. Electronic address: sophie.saunier@inserm.fr.
Publikováno v:
Kidney international [Kidney Int] 2023 Aug; Vol. 104 (2), pp. 378-387. Date of Electronic Publication: 2023 May 23.
Autor:
Van Heyningen, V., Bickmore, W. A., Seawright, A., Fletcher, J. M., Maule, J., Fekete, G., Gessler, M., Bruns, G. A. P., Huerre-Jeanpierre, C., Junien, C., Williams, B. R. G., Hastie, N. D.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1990 Jul 01. 87(14), 5383-5386.
Externí odkaz:
https://www.jstor.org/stable/2355090
Autor:
Henry, I., Grandjouan, S., Couillin, P., Barichard, F., Huerre-Jeanpierre, C., Glaser, T., Philip, T., Lenoir, G., Chaussain, J. L., Junien, C.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1989 May 01. 86(9), 3247-3251.
Externí odkaz:
https://www.jstor.org/stable/33843
Autor:
Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Nguyen TT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands., Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye., Calzada-Wack J; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Li Y; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany., Saygılı S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Wimmers V; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany., Kim GJ; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany., Chrysanthou M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands., Bakey Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany., Kraiger M; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Sanz-Moreno A; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Amarie OV; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Rathkolb B; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, 81377, Germany.; German Center for Diabetes Research (DZD), Neuherberg, 85764, Germany., Klein-Rodewald T; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Garrett L; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Hölter SM; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany., Seisenberger C; Institute of Molecular Animal Breeding and Biotechnology, Gene Center, Ludwig-Maximilians-University Munich, Munich, 81377, Germany., Haug S; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany., Marschall S; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Wurst W; Institute of Developmental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; Chair of Developmental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany.; Deutsches Institut fur Neurodegenerative Erkrankungen (DZNE) Site Munich, Munich, 81377, Germany.; Munich Cluster for Systems Neurology (SyNergy), Adolf-Butenandt-Institut, Ludwig-Maximilians-University Munich, Munich, 81377, Germany., Fuchs H; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Gailus-Durner V; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany., Wuttke M; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany., de Angelis MH; Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, 85764, Germany.; German Center for Diabetes Research (DZD), Neuherberg, 85764, Germany.; Chair of Experimental Genetics, TUM School of Life Sciences (SoLS), Technical University of Munich, Freising, 85354, Germany., Ćomić J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Doğan ÖA; Department of Pediatric Genetics, Acibadem Mehmet Ali Aydinlar University, Faculty of Medicine, Istanbul, Türkiye., Özlük Y; Department of Pathology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Türkiye., Taşdemir M; Department of Pediatric Nephrology, Istinye University School of Medicine, Liv Hospital, Istanbul, Türkiye., Ağbaş A; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Canpolat N; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Ćalışkan S; Department of Pediatric Nephrology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye., Weber R; Department of Human Genetics, Hannover Medical School, Hannover, 30625, Germany., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Jeanpierre C; Inserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France., Saunier S; Inserm U1163, Laboratoire des Maladies Renales Hereditaires Institut Imagine, Université de Paris, Paris, France., Lim TY; Department of Medicine, Division of Nephrology, Columbia University, New York, New York, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Wu K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands., Antony D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany., Matschkal J; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Schaaf C; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Renders L; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Schmaderer C; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Heemann U; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany., Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and University Medical Center Freiburg, 79106 Freiburg, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany., Arnold S; Institute of Experimental and Clinical Pharmacology and Toxicology II, Faculty of Medicine, University of Freiburg and, BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University, Freiburg, 79104, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany., Ozaltin F; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, 06100, Türkiye.; Department of Pediatric Nephrology, Hacettepe University Faculty of Medicine, 06100, Sihhiye, Ankara, Türkiye., Schmidts M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, 79106, Germany.; CIBSS - Center for Integrative Biological Signaling Studies, University of Freiburg, 79106 Freiburg, Germany., Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, 81675, Germany.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Mar 22. Date of Electronic Publication: 2023 Mar 22.
Autor:
Dorval G; APHP, Service de Génétique moléculaire, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France.; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Jeanpierre C; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Morinière V; APHP, Service de Génétique moléculaire, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France., Tournant C; APHP, Service de Génétique moléculaire, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France., Bessières B; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France., Attié-Bittach T; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France.; Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Amiel J; Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; APHP, Service de Génétique, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France., Spaggari E; APHP, Service d'Obstétrique et Médecine fœtale, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France., Ville Y; APHP, Service d'Obstétrique et Médecine fœtale, Hôpital universitaire Necker-Enfants malades, F-75015, Paris, France.; EA 7328, Université de Paris, Paris, France., Merieau E; Service de Néphrologie pédiatrique, Hôpital universitaire de Tours, Tours, France., Gubler MC; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Saunier S; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Heidet L; Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. laurence.heidet@aphp.fr.; APHP, Service de Néphrologie pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants malades, 149 rue de Sèvres, F-75015, Paris, France. laurence.heidet@aphp.fr.
Publikováno v:
Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2021 Aug; Vol. 36 (8), pp. 2361-2369. Date of Electronic Publication: 2021 Feb 13.
Autor:
Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Y. -J., Na, Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmolinski, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., Sanna-Cherchi, S.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::e76e82371969da1ace2675a33cb05ca0
http://hdl.handle.net/11570/3148929
http://hdl.handle.net/11570/3148929
Autor:
Auber, F., Lortat-Jacob, S., Sarnacki, S., Jaubert, F., Salomon, R., Thibaud, E., Jeanpierre, C., Nihoul-Fékété, C.
Publikováno v:
In Journal of Pediatric Surgery January 2003 38(1):124-129
Autor:
Han, Ji Yoon1 (AUTHOR) han024@catholic.ac.kr, Gwack, Jin2,3 (AUTHOR) gwackjin@jbnu.ac.kr, Kim, Tae Yun4 (AUTHOR) cseokim@jbnu.ac.kr, Park, Joonhong3,5 (AUTHOR) cseokim@jbnu.ac.kr
Publikováno v:
International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p9823. 12p.