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Page 1
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Among authors: weber s. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-Brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. Okorn C, et al. Among authors: weber s, weber l. Pediatr Nephrol. 2019 Jun;34(6):1065-1075. doi: 10.1007/s00467-018-4188-8. Epub 2019 Jan 21. Pediatr Nephrol. 2019. PMID: 30666461
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Among authors: weber s. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 Free PMC article.
Hyperparathyroidism Is an Independent Risk Factor for Allograft Dysfunction in Pediatric Kidney Transplantation.
Prytula A, Shroff R, Krupka K, Deschepper E, Bacchetta J, Ariceta G, Awan A, Benetti E, Büscher A, Berta L, Carraro A, Christian M, Dello Strologo L, Doerry K, Haumann S, Klaus G, Kempf C, Kranz B, Oh J, Pape L, Pohl M, Printza N, Rubik J, Schmitt CP, Shenoy M, Spartà G, Staude H, Sweeney C, Weber L, Weber S, Weitz M, Haffner D, Tönshoff B; Working Groups “Transplantation” and “CKD-MBD” of the European Society for Paediatric Nephrology (ESPN) and the Cooperative European Paediatric Renal Transplant Initiative (CERTAIN) Research Network. Prytula A, et al. Among authors: weber s, weber l. Kidney Int Rep. 2022 Oct 28;8(1):81-90. doi: 10.1016/j.ekir.2022.10.018. eCollection 2023 Jan. Kidney Int Rep. 2022. PMID: 36644359 Free PMC article.
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.
Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. Among authors: weber s. JAMA Pediatr. 2018 Jan 1;172(1):74-86. doi: 10.1001/jamapediatrics.2017.3938. JAMA Pediatr. 2018. PMID: 29181500
Review of neurodevelopmental disorders in patients with HNF1B gene variations.
Nittel CM, Dobelke F, König J, Konrad M, Becker K, Kamp-Becker I, Weber S; NEOCYST consortium. Nittel CM, et al. Among authors: weber s. Front Pediatr. 2023 Mar 9;11:1149875. doi: 10.3389/fped.2023.1149875. eCollection 2023. Front Pediatr. 2023. PMID: 36969268 Free PMC article. Review.
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations.
Kohl S, Avni FE, Boor P, Capone V, Clapp WL, De Palma D, Harris T, Heidet L, Hilger AC, Liapis H, Lilien M, Manzoni G, Montini G, Negrisolo S, Pierrat MJ, Raes A, Reutter H, Schreuder MF, Weber S, Winyard PJD, Woolf AS, Schaefer F, Liebau MC. Kohl S, et al. Among authors: weber s. Nephrol Dial Transplant. 2022 Nov 23;37(12):2351-2362. doi: 10.1093/ndt/gfac207. Nephrol Dial Transplant. 2022. PMID: 35772019 Free PMC article.
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people.
Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, König J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. Among authors: weber s. Nat Rev Nephrol. 2019 Nov;15(11):713-726. doi: 10.1038/s41581-019-0155-2. Nat Rev Nephrol. 2019. PMID: 31118499 Free PMC article.
3,617 results