Journal Watch
AD structural kidney disorders
How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study.
Author(s): Champy CM, Campi R, Grande P, de la Taille A, Méjean A, Granger B, Bitker MO, Roupret M Source: Minerva Urol Nefrol 2019 Oct 10; Publication date: 2019-10-10
Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series.
Author(s): Kennedy JM, Wang X, Plouffe KR, Dhanasekaran SM, Hafez K, Palapattu GS, Else T, Weizer AZ, Morgan TM, Spratt DE, Davenport MS, Chinnaiyan AM, Udager AM, Mehra R Source: Med Oncol 2019 Jul 22;36(9):74 Publication date: 2019-07-22
UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Author(s): Yang J, Zhang Y, Zhou J Source: BMC Pediatr 2019 May 8;19(1):145 Publication date: 2019-05-8
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Author(s): Kitzler TM, Schneider R, Kohl S, Kolvenbach CM, Connaughton DM, Dai R, Mann N, Nakayama M, Majmundar AJ, Wu CW, Kari JA, El Desoky SM, Senguttuvan P, Bogdanovic R, Stajic N, Valivullah Z, Lek M, Mane S, Lifton RP, Tasic V, Shril S, Hildebrandt F Source: Hum Genet 2019 Jun 22; Publication date: 2019-06-22
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
Author(s): Saffari A, Brösse I, Wiemer-Kruel A, Wilken B, Kreuzaler P, Hahn A, Bernhard MK, van Tilburg CM, Hoffmann GF, Gorenflo M, Hethey S, Kaiser O, Kölker S, Wagner R, Witt O, Merkenschlager A, Möckel A, Roser T, Schlump JU, Serfling A, Spiegler J, Milde T, Ziegler A, Syrbe S Source: Orphanet J Rare Dis 2019 May 3;14(1):96 Publication date: 2019-05-3 |