ArticleKidney international reports2024
Renal and Extrarenal Phenotypes in Patients With
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Article in Kidney international reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
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Who cites it
15 citing papers in PubMed.
- Review
- Prenatal body fluid analysis in the evaluation of CAKUT.Pediatric nephrology (Berlin, Germany) · 2026Article
- Insights from maturity-onset diabetes of the young into impaired insulin secretion in type 2 diabetes.Endocrine journal · 2026Review
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- HNF1B nephropathy: for which congenital renal anomalies is genetic analysis advisable?Pediatric nephrology (Berlin, Germany) · 2026Article
- Transition of patients with hereditary nephropathies from paediatric to adult care.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Molecular impact of a novelFrontiers in endocrinology · 2026Article
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children.BMC nephrology · 2025Article
- 17q12 Recurrent Deletion Syndrome in Childhood.Genes · 2025Review
- Prenatal diagnosis of fetuses with renal abnormalities: a retrospective analysis of 329 Chinese cases.Orphanet journal of rare diseases · 2025Article
- [The European Rare Kidney Disease Reference Network].Innere Medizin (Heidelberg, Germany) · 2024Review
- Review
- Missing in Plain Sight No More? Copy Number Variation in Monogenic Kidney Disease.Kidney international reports · 2024Article
Corrections and comments
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Authors and funding
50 authors.
Bénédicte Buffin-MeyerNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Juliette RichardDepartment of Pediatric Internal Medicine, Rheumatology and Nephrology, Toulouse University Hospital, Toulouse, France.
Vincent GuigonisDepartment of Pediatrics, Hôpital Mère-Enfant, University Hospital of Limoges, Limoges, France.
Stefanie WeberPediatric Nephrology, University Children's Hospital Marburg, Marburg, Germany.
Jens KönigDepartment of General Pediatrics, University Children's Hospital, Münster, Germany.
Laurence HeidetAPHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.
Nabila MoussaouiNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Jeanne-Pierrette VuNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Stanislas FaguerNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Audrey CasemayouNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Richa PrakashAPHP, Service de Néphrologie Pédiatrique, Hôpital Universitaire Necker-Enfants malades, Paris, France.
Véronique BaudouinNephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France.
Julien HoganNephrology Department, Robert Debré Hospital, APHP Nord, Paris University, Paris, France.
Demi AlexandrouUniversity College London Medical School, London, UK.
Detlef BockenhauerUniversity College London, Department of Renal Medicine, London, UK.
Justine BacchettaCentre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Bruno RanchinCentre de Référence des Maladies Rénales Rares, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France.
Stepanka PruhovaDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.
Jakub ZiegDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.
Annie LahocheUnité de néphrologie, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
Christine OkornDepartment of Pediatrics II, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany.
Violetta Antal-KónyaMTA-SE Lendület Nephrogenetic Laboratory, Budapest, Hungary.
Denis MorinNéphrologie Pédiatrique, CHU de Montpellier, Montpellier, France.
Francesca BecherucciNephrology and Dialysis Unit, Meyer Children's Hospital IRCCS, Florence, Italy.
Sandra HabbigDepartment of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Max C LiebauDepartment 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.
Mathilde MaurasDepartment of Pediatrics, Hôpital Nord, CHU de Saint-Etienne, Saint-Etienne, France.
Tom NijenhuisDepartment of Nephrology, Radboud University Medical Center, Nijmegen, the Netherlands.
Brigitte LlanasUnité de Néphrologie Pédiatrique, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Centre de Références des Maladies rénales rares du Sud-Ouest (SORARE), Bordeaux, France.
Djalila MekahliDepartment of Pediatric Nephrology, University Hospitals, Leuven, Belgium.
Julia ThumfartDepartment of Pediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany.
Burkhard TönshoffDepartment of Pediatrics I, University Children's Hospital Heidelberg, Heidelberg, Germany.
Laura MassellaDivision of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Philippe EckartDepartment of Pediatrics, University Hospital of Caen, Caen, France.
Sylvie CloarecService de Néphrologie Pédiatrique, Hôpital Clocheville, CHRU, Tours, France.
Alejandro CruzPediatric Nephrology, University Hospital Vall d'Hebron, Barcelona, Spain.
Ludwig PatzerKlinik für Kinder- und Jugendmedizin, Krankenhaus St. Elisabeth und St. Barbara, Halle/Saale, Germany.
Gwenaelle RousseyService des Maladies Chroniques de l'Enfant, Hopital Mère Enfant, CHU Nantes, Nantes, France.
Isabelle VrillonService de Néphrologie Pédiatrique, Hôpital des Enfants, CHRU Nancy, Vandoeuvre les Nancy, France.
Olivier DunandService de Néphrologie Pédiatrique, CHU Réunion site Félix GUYON, St Denis, Ile de La Réunion, France.
Lucie BessenayDepartment of Pediatric Nephrology, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
Francesca TaroniPediatric Nephrology, Dialysis and Transplantation Unit Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Ferielle LouilletDépartement de Pédiatrie, Unité de Néphrologie-Hémodialyse, CHU Charles Nicolle, Rouen, France.
Carsten BergmannMedizinische Genetik Mainz, Limbach Genetics, Mainz, Germany.
Franz SchaeferDivision of Pediatric Nephrology, Heidelberg University Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany.
Albertien M van EerdeDepartment of Genetics, UMC Utrecht, Utrecht, The Netherlands.
Joost P SchanstraNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
Stéphane DecramerNational Institute of Health and Medical Research (INSERM), UMR 1297, Institute of Cardiovascular and Metabolic Disease, Toulouse, France.
HNF1B variant study group
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Hepatocyte nuclear factor 1-beta ( Methods: This was a retrospective observational study involving 521 patients with Results: Progression toward CKD stage 3 was significantly delayed in patients with the 17q12del compared to patients with Conclusion: Patients with the 17q12del display a significantly better kidney survival than patients with other
Indexed as
chronic kidney diseasegenotype-phenotype correlationHNF1B diseaseoutcome
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What Socratic holds
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LicenceCC BY-NC-ND
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Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.