Disruption of ROBO2 is associated with congenital anomalies of kidney and urinary tract and confers risk of vesicoureteric reflux

Autor: Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi J, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2295::9770657d3d0a6902b7cd566bf3b2bb9d
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:78015

Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.

Autor: de Haan A; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Eijgelsheim M; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Vogt L; Department of Internal Medicine, section Nephrology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Hoorn EJ; Department of Internal Medicine, Division of Nephrology and Transplantation, Erasmus Medical Center, Rotterdam, the Netherlands., Rotmans JI; Department of Internal Medicine, Leiden University Medical Center, Leiden, the Netherlands., Fortrie G; Department of internal Medicine, Division of Nephrology, Groene Hart Hospital, Gouda, the Netherlands., Marsman RFJ; Department of Internal Medicine, section Nephrology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands., Rothuizen TC; Department of Internal Medicine, Division of Nephrology, Rijnstate Hospital, Arnhem, the Netherlands., Spijker HS; Department of Internal Medicine, Leiden University Medical Center, Leiden, the Netherlands., Claus LR; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Konings CJAM; Department of internal Medicine, Division of Nephrology, Catharina Hospital Eindhoven, Eindhoven, the Netherlands., Waanders F; Department of Internal Medicine, Division of Nephrology, Isala, Zwolle, the Netherlands., Doornebal J; Department of Internal Medicine, Division of Nephrology, Isala, Zwolle, the Netherlands., Kramer AB; Department of Internal Medicine, Martini Hospital, Groningen, the Netherlands., Adema AY; Department of Internal Medicine, Medical Center Leeuwarden, Leeuwarden, the Netherlands., van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Knoers NVAM; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., de Borst MH; Department of Internal Medicine, Division of Nephrology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2024 Nov 19. Date of Electronic Publication: 2024 Nov 19.

Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.

Autor: Vendrig LM; Department of Pediatric Nephrology, Amsterdam UMC-Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Ten Hoor MAC; Division of Nephrology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., König BH; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands., Lekkerkerker I; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Renkema KY; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Schreuder MF; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van der Zanden LFM; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Groen In 't Woud S; IQ Health Science Department, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Mulder J; Division of Nephrology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, Leiden, The Netherlands.; Division of Nephrology, Department of Pediatrics, Sophia Children's Hospital, Erasmus Medical Center, Rotterdam, The Netherlands., Westland R; Department of Pediatric Nephrology, Amsterdam UMC-Emma Children's Hospital, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. ri.westland@amsterdamumc.nl.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2024 Oct 07. Date of Electronic Publication: 2024 Oct 07.

The Role of Genetic Testing in Adult CKD.

Autor: Knoers NVAM; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., van Eerde AM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2024 Aug 01; Vol. 35 (8), pp. 1107-1118. Date of Electronic Publication: 2024 May 06.

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Autor: Buffin-Meyer B; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Richard J; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France., Guigonis V; Department of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France., Weber S; Pediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany., König J; Department of General Pediatrics, University Children's Hospital, Münster, Germany., Heidet L; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Moussaoui N; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Filière ORphan KIdney Disease (ORKiD), Montpellier, France., Vu JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Faguer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Casemayou A; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.; Department of Nephrology and Organ Transplantation, University Hospital of Toulouse, and French Intensive Care Renal Network, Toulouse, France., Prakash R; APHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.; Centre De Référence Des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Paris, France., Baudouin V; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Hogan J; Nephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France., Alexandrou D; University College London Medical School, London, UK., Bockenhauer D; University College London, Department of Renal Medicine, London, UK.; Renal Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Department of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium., Bacchetta J; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.; INSERM 1033, Faculté de Médecine Lyon Est, Lyon, France., Ranchin B; Centre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Pruhova S; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Zieg J; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic., Lahoche A; Unité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Okorn C; Department of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany., Antal-Kónya V; MTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.; Department of Pediatrics, Semmelweis University, Budapest, Hungary., Morin D; Néphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Montpellier, France.; Université de Montpellier, Montpellier, France., Becherucci F; Nephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy., Habbig S; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Liebau MC; Department of Pediatrics and Center for Family Health, Center for Rare Diseases and Center for Molecular Medicine, University Hospital Cologne and Medical Faculty, University of Cologne, Cologne, Germany., Mauras M; Department of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France., Nijenhuis T; Department of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands., Llanas B; Unité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, France., Mekahli D; Department of Pediatric Nephrology, University Hospitals, Leuven, Belgium.; PKD Research Group, Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Thumfart J; Department of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany., Tönshoff B; Department of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany., Massella L; Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Eckart P; Department of Pediatrics, University Hospital of Caen, Caen, France., Cloarec S; Service de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.; Centre De Compétence Maladies Rénales Rares, Filière ORphan KIdney Disease (ORKiD), France., Cruz A; Pediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain., Patzer L; Klinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany., Roussey G; Service des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Nantes, France., Vrillon I; Service de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France., Dunand O; Service de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, France., Bessenay L; Department of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France., Taroni F; Pediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Louillet F; Département de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France., Bergmann C; Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.; Department of Medicine IV, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Schaefer F; Division of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany., van Eerde AM; Department of Genetics, UMC Utrecht, Utrecht, The Netherlands., Schanstra JP; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; University Paul Sabatier, Toulouse-III, Toulouse, France., Decramer S; National Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.; Department of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.; Centre De Référence Des Maladies Rénales Rares du Sud-Ouest (SORARE), Toulouse University Hospital, Toulouse, France.

Publikováno v: Kidney international reports [Kidney Int Rep] 2024 May 16; Vol. 9 (8), pp. 2514-2526. Date of Electronic Publication: 2024 May 16 (Print Publication: 2024).