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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. Among authors: kari ja. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC 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: kari ja. 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.
Rituximab for refractory cases of childhood nephrotic syndrome.
Kari JA, El-Morshedy SM, El-Desoky S, Alshaya HO, Rahim KA, Edrees BM. Kari JA, et al. Pediatr Nephrol. 2011 May;26(5):733-7. doi: 10.1007/s00467-011-1778-0. Epub 2011 Jan 31. Pediatr Nephrol. 2011. PMID: 21279725 Clinical Trial.
155 results