부산대학교 도서관

Saei H; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Estebe B; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Goudin N; Necker Bioimage Analysis Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UAR 3633, Paris, France.; Esmailpour M; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Haure J; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Gribouval O; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Arrondel C; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Moriniere V; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Tian P; Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, United Kingdom.; Lennon R; Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, United Kingdom.; Department of Paediatric Nephrology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.; Antignac C; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Mollet G; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Dorval G; Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Le Moal P; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Knebelmann B; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Hummel A; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Gribouval O; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.; Anglicheau D; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Legendre C; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Morinière V; Genetic Department, Necker Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Heidet L; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.; Pediatric Nephrology Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Dorval G; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.; Genetic Department, Necker Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Antignac C; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.; Genetic Department, Necker Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Servais A; Nephrology and Transplantation Department, Inherited Kidney Diseases Reference Center, Necker-Enfants Malades University Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.; Inserm U1163, Laboratoire des Maladies Rénales Héréditaires, Imagine Institute, Université Paris Cité, Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101579321 Publication Model: eCollection Cited Medium: Print ISSN: 2048-8505 (Print) Linking ISSN: 20488505 NLM ISO Abbreviation: Clin Kidney J Subsets: PubMed not MEDLINE

Berody, S.; Heidet, L.; Gribouval, O.; Harambat, Jerome; Niaudet, P.; Baudouin, V.; Bacchetta, J.; Boudaillez, B.; Dehennault, M.; de Parscau, L.; Dunand, O.; Flodrops, H.; Fila, M.; Garnier, A.; Louillet, F.; Macher, M. A.; May, A.; Merieau, E.; Monceaux, F.; Pietrement, C.; Rousset-Rouviere, C.; Roussey, G.; Taque, S.; Tenenbaum, J.; Ulinski, T.; Vieux, R.; Zaloszyc, A.; Moriniere, V.; Salomon, R.; Boyer, O.

Nephrology Dialysis Transplantation. 34:458-467

Marsili L; Université de Lille, ULR7364 RADEME, Hôpital Universitaire de Lille, Service de Génétique Clinique, Lille, France.; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Mantecon M; Institut Imagine, Genetics of Mitochondrial Diseases, Université Paris Cité, Inserm UMR 1163, Paris, France.; Arrondel C; Institut Imagine, Laboratory of Inherited Kidney Diseases, Université Paris Cité, Inserm UMR U1163, Paris, France.; Barcia G; Institut Imagine, Genetics of Mitochondrial Diseases, Université Paris Cité, Inserm UMR 1163, Paris, France.; APHP-Centre, Service de Médecine Génomique Des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Assouline Z; APHP-Centre, Service de Médecine Génomique Des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France.; Gribouval O; Institut Imagine, Laboratory of Inherited Kidney Diseases, Université Paris Cité, Inserm UMR U1163, Paris, France.; Wellesley D; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK.; Harrison V; Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, UK.; Marijon P; Laboratoire de Biologie Médicale MultiSites SeqOIA, Paris, France.; Colson C; Université de Lille, ULR7364 RADEME, Hôpital Universitaire de Lille, Service de Génétique Clinique, Lille, France.; Stichelbout M; Centre de Biologie-Pathologie de Lille, Hôpital Universitaire de Lille, Lille, France.; Gubler MC; Institut Imagine, Laboratory of Inherited Kidney Diseases, Université Paris Cité, Inserm UMR U1163, Paris, France.; Antignac C; Institut Imagine, Laboratory of Inherited Kidney Diseases, Université Paris Cité, Inserm UMR U1163, Paris, France.; Rotig A; Institut Imagine, Genetics of Mitochondrial Diseases, Université Paris Cité, Inserm UMR 1163, Paris, France.; Heidet L; Institut Imagine, Laboratory of Inherited Kidney Diseases, Université Paris Cité, Inserm UMR U1163, Paris, France. laurence.heidet@aphp.fr.; Laboratoire de Biologie Médicale MultiSites SeqOIA, Paris, France. laurence.heidet@aphp.fr.; APHP-Centre, Service de Néphrologie Pédiatrique, Centre de Référence Des Maladies Rénales Héréditaires de L'Enfant Et de L'Adulte (MARHEA), Hôpital Universitaire Necker-Enfants Malades, 149 Rue de Sèvres, 75015, Paris, France. laurence.heidet@aphp.fr.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Kachmar J; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.; Saei H; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.; Morinière V; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Heidet L; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Pediatric Nephrology Department, MARHEA Reference Center, Necker-Enfants Malades Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Knebelmann B; Department of Nephrology, MARHEA Reference Center, Necker-Enfants Malades Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Gribouval O; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.; Mautret-Godefroy M; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Burtey S; Inserm, C2VN, INRAE, C2VN, Aix-Marseille University, Marseille, France; Nephrology and Renal Transplantation Center, AP-HM Hôpital de la Conception, Marseille, France.; Vuiblet V; Department of Nephrology, CHU de Reims, Reims, France; Department of Pathology, CHU de Reims, Reims, France; Artificial Intelligence Institute, Reims Champagne-Ardenne University, CHU de Reims, Reims, France.; Alla A; Department of Nephrology, CHRU de Nancy, Nancy, France.; Ibalanky A; Department of Nephrology, Groupe Hospitalier Sud Ile-de-France, Melun, France.; Moranne O; Nephrology-Dialysis-Apheresis Unit, University Hospital Caremeau Nîmes, Montpellier University, Nîmes, France.; Nizon M; Medical Genetics Department, CHU Hôtel Dieu, Nantes, France.; Savenkoff B; Department of Nephrology, CHR Metz-Thionville, Metz, France.; Nitschké P; Bioinformatics Platform, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.; Antignac C; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France.; Dorval G; Hereditary Kidney Diseases Laboratory, Inserm UMR 1163, Imagine Institute, Paris Cité University, Paris, France; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address: guillaume.dorval@inserm.fr.

Publisher: W.B. Saunders Country of Publication: United States NLM ID: 8110075 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-6838 (Electronic) Linking ISSN: 02726386 NLM ISO Abbreviation: Am J Kidney Dis Subsets: MEDLINE

Dirix M; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Gribouval O; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Arrondel C; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Benjelloun S; Laboratoires de biologie médicale SeqOIA, Paris, France.; Boyer O; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte MARHEA, Hôpital Necker-Enfants Malades, Paris, France.; Charbit M; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte MARHEA, Hôpital Necker-Enfants Malades, Paris, France.; Antignac C; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Service de Médecine Génomique des Maladies Rares, APHP, Université Paris-Cité, France.; Heidet L; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte MARHEA, Hôpital Necker-Enfants Malades, Paris, France.; Dorval G; INSERM U1163, Laboratoire des Maladies Rénales Héréditaires, Institut Imagine, Université Paris-Cité, France.; Service de Médecine Génomique des Maladies Rares, APHP, Université Paris-Cité, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Colin, Estelle; Cong, Huynh; Mollet, G.; Guichet, Agnés; Gribouval, O.; Arrondel, C.; Boyer, O.; Daniel, Laurent; Gubler, M.; Ekinci, Z.; Tsimaratos, M.; Chabrol, Brigitte; Boddaert, Nathalie; Verloes, Alain; Chevrollier, Arnaud; Gueguen, Naïg; Desquiret-Dumas, Valérie; Ferré, Marc; Procaccio, Vincent; Richard, L.; Funalot, Benoit; Moncla, Anne; Bonneau, Dominique; Antignac, Corinne

American Journal of Human Genetics

Bouchireb, K.; Boyer, O.; Gribouval, O.; Nevo, F.; Huynh-Cong, E.; Morinière, V.; Campait, R.; Ars, E.; Brackman, D.; Dantal, J.; Eckart, P.; Gigante, M.; Liutkus, A.; Megarbane, A.; Mohsin, N.; Ozaltin, F.; Saleem, M.; Schaefer, F.; Soulami, K.; Torra, R.; Garcelon, N.; Mollet, G.; Dahan, K.; Antignac, C.

Human Mutation. 35(2):178-186

Kachmar J; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Boyer O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Lipska-Ziętkiewicz B; Centre for Rare Diseases and Clinical Genetics Unit, Medical University of Gdansk, Gdansk, Poland.; Morinière V; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Gribouval O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Heidet L; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de néphrologie pédiatrique Centre de Référence MARHEA, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.; Balasz-Chmielewska I; Department of Pediatrics, Nephrology and Hypertension, Medical University of Gdansk, Gdansk, Poland.; Benetti E; Pediatric Nephrology Unit, Padua University Hospital, Padua, Italy.; Cloarec S; Service de Néphrologie-Hémodialyse pédiatrique, Centre de compétence Maladies Rénales Rares, CHRU Tours-Clocheville, Tours, France.; Csaicsich D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Decramer S; Pediatric Nephrology Unit, Toulouse University Hospital; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest, SoRare; INSERM U1048, Institute of Cardiovascular and Metabolic Diseases, Toulouse, France.; Gellermann J; Klinik für Pädiatrie/Nephrologie, Charité Campus Virchox-Klinikum, Berlin, Germany.; Guigonis V; Pediatrics, Hôpital de la mère et de l'enfant, Limoges, France.; Hogan J; Pediatric Nephrology, Hôpital Universitaire Robert-Debré; Paris Translational Research Center for Organ Transplantation, Inserm UMR-S970, Université Paris Cité, Paris, France.; Bayazit AK; Division of Pediatric Nephrology, Cukurova University, Adana, Türkiye.; Melk A; Children's Hospital, Hannover Medical School, Hannover, Germany.; Nigmatullina N; National Research Center for Maternal and Child Heatlh, Astana, Kazakhstan.; Oh J; Pediatric Nephrology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ozaltin F; Department of Pediatric Nephrology, Hacettepe University, Faculty of Medicine, Sihhiye, Ankara, Türkiye.; Ranchin B; Pediatric Nephrology Unit, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, Lyon, France.; Tsimaratos M; Faculté de médecine de Marseille, Université de la Méditerranée, Marseille, France.; Trautmann A; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany.; Antignac C; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Schaefer F; Department of Pediatric Nephrology, Center for Pediatric and Adolescent Medicine, University of Heidelberg, Germany.; Dorval G; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Imagine Institute for Genetic Diseases, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance publique, Hôpitaux de Paris (AP-HP), Paris, France.

Publisher: Elsevier Country of Publication: United States NLM ID: 101684752 Publication Model: eCollection Cited Medium: Internet ISSN: 2468-0249 (Electronic) Linking ISSN: 24680249 NLM ISO Abbreviation: Kidney Int Rep Subsets: PubMed not MEDLINE

Saei H; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Masson C; Bioinformatics Platform, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Morinière V; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Kachmar J; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Heidet L; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Pediatric Nephrology Department, MARHEA Reference Center, Necker Enfants Malades Hospital, AP-HP, Paris, France.; Gribouval O; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Antignac C; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Dorval G; Laboratory of Hereditary Kidney Diseases, Inserm UMR 1163, Imagine Institute, Université Paris Cité, Paris, France.; Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

Publisher: Wolters Kluwer Health, on behalf of the American Society of Nephrology Country of Publication: United States NLM ID: 9013836 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-3450 (Electronic) Linking ISSN: 10466673 NLM ISO Abbreviation: J Am Soc Nephrol Subsets: MEDLINE; In Process

Zingg-Schenk, A; Bacchetta, J; Corvol, P; Michaud, A; Stallmach, T; Cochat, P; Gribouval, O; Gubler, M C; Neuhaus, T J

European Journal of Pediatrics. 167:311-316

Gerber, S; Rozet, JM; Takezawa, S; Coutinho dos Santos, L; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frézal, J; Ferraz, F; Yu-Umesono, R; Munnich, A; Kaplan, J

Human Genetics. 107:276-284

Lenkkeri, U; Männikkö, M; McCready, P; Lamerdin, J; Gribouval, O; Niaudet, P; Antignac, C; Kashtan, CE; Holmberg, C; Olsen, A

AMERICAN JOURNAL OF HUMAN GENETICS. 64(1):51-61

Town, M.; Jean, G.; Cherqui, S.; Attard, M.; Forestier, L.; Whitmore, S.; Callen, D.; Gribouval, O.; Broyer, M.; Bates, G.; van't Hoff, W.; Antignac, C.

Nature Genetics. 18:319-324

Bedin M; Laboratory of Epithelial Biology and Disease and.; Boyer O; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.; Department of Pediatric Nephrology and.; Servais A; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.; Department of Nephrology, Necker Hospital, Assistance Publique Hôpitaux de Paris (APHP), Paris, France.; Li Y; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Villoing-Gaudé L; Laboratory of Epithelial Biology and Disease and.; Tête MJ; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.; Cambier A; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.; Hogan J; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.; Baudouin V; Department of Pediatric Nephrology and Transplantation, Robert-Debré Hospital, APHP, Paris, France.; Krid S; Department of Pediatric Nephrology and.; Bensman A; Department of Pediatric Nephrology and.; Lammens F; Centre Hospitalier Régional Universitaire de Lille, Lille, France.; Louillet F; Centre Hospitalier Universitaire de Rouen, Rouen, France.; Ranchin B; Department of Pediatric Nephrology, Hospices Civils de Lyon, Bron, France.; Vigneau C; Centre Hospitalier Universitaire de Rennes, INSERM U1085 IRSET-9, Rennes, France.; Bouteau I; Centre Hospitalier Universitaire de Poitiers, Poitiers, France.; Isnard-Bagnis C; Department of Nephrology, Pitié Salpetrière Hospital, Paris, France.; Mache CJ; Children's Hospital, Medical University Graz, Graz, Austria.; Schäfer T; Renal Division, University Medical Center Freiburg, Freiburg, Germany.; Pape L; Department of Pediatric Kidney, Liver and Metabolic Disease, Hannover Medical School, Hannover, Germany.; Gödel M; Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Huber TB; Department of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Benz M; Kindernephrologie Dachau, Dachau, Germany.; Klaus G; Department of Child and Adolescent Medicine, University Medical Center Marburg-Giessen, Marburg, Germany.; Hansen M; KfH-Nierenzentrum für Kinder und Jugendliche und Clementine-Kinderhospital, Frankfurt, Germany.; Latta K; KfH-Nierenzentrum für Kinder und Jugendliche und Clementine-Kinderhospital, Frankfurt, Germany.; Gribouval O; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.; Morinière V; Department of Genetics, Necker Hospital, APHP, Paris, France.; Tournant C; Department of Genetics, Necker Hospital, APHP, Paris, France.; Grohmann M; Center for Human Genetics, Bioscientia, Ingelheim, Germany.; Center for Human Genetics, Mainz, Germany.; Kuhn E; Center for Human Genetics, Bioscientia, Ingelheim, Germany.; Wagner T; Center for Human Genetics, Bioscientia, Ingelheim, Germany.; Bole-Feysot C; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.; Jabot-Hanin F; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.; Nitschké P; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.; Bioinformatics Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Université de Paris, Paris, France.; Ahluwalia TS; Steno Diabetes Center Copenhagen, Gentofte, Denmark.; Köttgen A; Institute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Andersen CBF; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Bergmann C; Center for Human Genetics, Bioscientia, Ingelheim, Germany.; Center for Human Genetics, Mainz, Germany.; Renal Division, Department of Medicine, University Hospital Freiburg, Freiburg, Germany.; Antignac C; Laboratory of Hereditary Kidney Disease, Imagine Institute, INSERM U1163, Université de Paris, Paris, France.; Department of Genetics, Necker Hospital, APHP, Paris, France.; Simons M; Laboratory of Epithelial Biology and Disease and.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Gribouval O; Inserm U1163, Institut Imagine, University Paris Descartes, Paris, France.; Boyer O; Inserm U1163, Institut Imagine, University Paris Descartes, Paris, France.; Pediatric Nephrology Department, Necker Hospital, APHP, Paris, France.; Knebelmann B; Nephrology and Transplantation Department, Necker Hospital, APHP, Paris, France.; Karras A; Nephrology Department, European Georges Pompidou Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Dantal J; Nephrology Department, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Fourrage C; Bioinformatic Platform, Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Paris, France.; Alibeu O; Genomic Platform, Inserm UMR1163, Paris Descartes Sorbonne Paris Cité University, Paris, France.; Hogan J; Pediatric Nephrology Department, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Dossier C; Pediatric Nephrology Department, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Tête MJ; Inserm U1163, Institut Imagine, University Paris Descartes, Paris, France.; Antignac C; Inserm U1163, Institut Imagine, University Paris Descartes, Paris, France.; Genetic Department, Necker Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Servais A; Inserm U1163, Institut Imagine, University Paris Descartes, Paris, France.; Nephrology and Transplantation Department, Necker Hospital, APHP, Paris, France.

Publisher: Oxford University Press Country of Publication: England NLM ID: 8706402 Publication Model: Print Cited Medium: Internet ISSN: 1460-2385 (Electronic) Linking ISSN: 09310509 NLM ISO Abbreviation: Nephrol Dial Transplant Subsets: MEDLINE

Arrondel C; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Missoury S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.; Patat J; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Menara G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Collinet B; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, UMR7590 CNRS/Sorbonne-Université, UPMC, Paris, France.; Liger D; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Durand D; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Gribouval O; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Boyer O; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.; Buscara L; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Martin G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Machuca E; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Nevo F; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Lescop E; Institut de Chimie des Substances Naturelles, CNRS UPR2301, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.; Braun DA; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Boschat AC; Mass Spectrometry Facility, INSERM UMR1163, Imagine Institute, Paris, France.; Sanquer S; Service de Biochimie métabolomique et protéomique, Hôpital Necker-Enfants Malades, Paris, France.; INSERM UMR-S1124, Université de Paris, Paris, France.; Guerrera IC; Proteomics Platform 3P5-Necker, Université de Paris-Structure Fédérative de Recherche Necker, Inserm US24/CNRS, UMS3633, Paris, France.; Revy P; Inserm UMR1163, Laboratory of Genome Dynamics in the Immune System, Labellisé Ligue contre le Cancer, Université de Paris, Imagine Institute, Paris, France.; Parisot M; Genomics Core Facility, Structure Fédérative de Recherche Necker, INSERM U1163 and Inserm US24/CNRS UMS3633, Université de Paris, Paris, France.; Masson C; Bioinformatics Platform, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Boddaert N; Department of Pediatric Radiology, and Imagine Institute, INSERM UMR 1163 and INSERM U1000, Université de Paris, Hôpital Necker-Enfants Malades, Paris, France.; Charbit M; Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.; Decramer S; Department of Pediatric Nephrology-Internal Medicine, Purpan Hospital, Toulouse, France.; Novo R; Pediatric Nephrology Unit, University Hospital of Lille, Lille, France.; Macher MA; Department of Pediatric Nephrology, AP-HP, Robert Debre Hospital, Paris, France.; Ranchin B; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.; Bacchetta J; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.; Laurent A; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.; Collardeau-Frachon S; Department of Pathology, Hospices Civils de Lyon-Hôpital Femme-Mère-Enfant, Claude Bernard Lyon 1 University, Bron, France.; van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.; Hildebrandt F; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Magen D; Pediatric Nephrology Institute-Rambam Health Care Campus-Technion Faculty of Medicine, Haifa, Israel.; Antignac C; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.; Department of Genetics, AP-HP, Necker Hospital, Paris, France.; van Tilbeurgh H; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France. herman.van-tilbeurgh@i2bc.paris-saclay.fr.; Mollet G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France. geraldine.mollet@inserm.fr.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Nandrot, E; Slingsby, C; Basak, A; Cherif-Chefchaouni, M; Benazzouz, B; Hajaji, Y; Boutayeb, S; Gribouval, O; Arbogast, L; Berraho, A; Abitbol, M; Hilal, L

Journal of Medical Genetics. Apr 01, 2003 40(4):262-267

Boisson M; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Arrondel C; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Cagnard N; Plateforme Bio-Informatique, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Morinière V; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Arkoub ZA; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Saei H; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Heidet L; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Néphrologie Pédiatrique Centre de Référence Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Kachmar J; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Hummel A; Service de Néphrologie Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Knebelmann B; Service de Néphrologie Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Bonnet-Dupeyron MN; Service de Biologie Médicale, Centre Hospitalier de Valence, Valence, France.; Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; Izzedine H; Department of Nephrology, Peupliers Private Hospital, Ramsay Générale de Santé, Paris, France.; Legrand E; Service de Néphrologie, Centre Hospitalier Ardèche Nord, Annonay, France.; Couarch P; Plateforme de Ressources Biologiques de l'Hôpital Necker-Enfants Malades, Inserm UMR 1163, Institut Imagine, Université de Paris-Cité, Paris, France.; Gribouval O; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Bole-Feysot C; Plateforme de Génomique, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Parisot M; Plateforme de Génomique, Institut Imagine-Structure Fédérative de Recherche Necker, INSERM U1163 et INSERM US24/CNRS UAR3633, Paris Descartes Sorbonne Paris Cite University, Paris, France.; Nitschké P; Plateforme Bio-Informatique, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Antignac C; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.; Dorval G; Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France. Electronic address: guillaume.dorval@inserm.fr.

Publisher: Elsevier Country of Publication: United States NLM ID: 0323470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-1755 (Electronic) Linking ISSN: 00852538 NLM ISO Abbreviation: Kidney Int Subsets: MEDLINE

Gonçalves S; Patat J; Guida MC; Lachaussée N; Arrondel C; Helmstädter M; Boyer O; Gribouval O; Gubler MC; Mollet G; Rio M; Charbit M; Bole-Feysot C; Nitschke P; Huber TB; Wheeler PG; Haynes D; Juusola J; de Villemeur TB; Nava C; Afenjar A; Keren B; Bodmer R; Antignac C; Simons M

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: PubMed not MEDLINE