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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: seeman t. Pediatr Nephrol. 2019 Jun;34(6):1065-1075. doi: 10.1007/s00467-018-4188-8. Epub 2019 Jan 21. Pediatr Nephrol. 2019. PMID: 30666461
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M. Weber S, et al. Among authors: seeman t. J Am Soc Nephrol. 2001 Sep;12(9):1872-1881. doi: 10.1681/ASN.V1291872. J Am Soc Nephrol. 2001. PMID: 11518780
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie). Bergmann C, et al. Among authors: seeman t. Kidney Int. 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. Kidney Int. 2005. PMID: 15698423 Free article.
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T, Kuwertz-Bröking E, Peco-Antic A, Tasic V, Dittrich K, Alshaya HO, von Vigier RO, Gallati S, Goodenough DA, Schaller A. Konrad M, et al. Among authors: seeman t. J Am Soc Nephrol. 2008 Jan;19(1):171-81. doi: 10.1681/ASN.2007060709. Epub 2007 Nov 14. J Am Soc Nephrol. 2008. PMID: 18003771 Free PMC article.
696 results