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11. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Brook-Carter PT; Peral B; Ward CJ; Thompson P; Hughes J; Maheshwar MM; Nellist M; Gamble V; Harris PC; Sampson JR Nat Genet; 1994 Dec; 8(4):328-32. PubMed ID: 7894481 [TBL] [Abstract][Full Text] [Related]
12. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Kandt RS; Haines JL; Smith M; Northrup H; Gardner RJ; Short MP; Dumars K; Roach ES; Steingold S; Wall S Nat Genet; 1992 Sep; 2(1):37-41. PubMed ID: 1303246 [TBL] [Abstract][Full Text] [Related]
13. TSC2/PKD1 contiguous gene syndrome: a report of 2 cases with emphasis on dermatopathologic findings. Kacerovska D; Vrtel R; Michal M; Vanecek T; Vodicka R; Kreuzberg B; Ricarova R; Pizinger K; Danis D; Reischig T; Kazakov DV Am J Dermatopathol; 2009 Aug; 31(6):532-41. PubMed ID: 19590422 [TBL] [Abstract][Full Text] [Related]
14. Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis. Griffin MD; Gamble V; Milliner DS; Gomez MR; Harris PC; Torres VE Nephrol Dial Transplant; 1997 Nov; 12(11):2284-8. PubMed ID: 9394312 [TBL] [Abstract][Full Text] [Related]
15. TSC2/PKD1 contiguous gene syndrome, with emphasis on a case with an atypical mild polycystic kidney phenotype and a novel genetic variant. Reyna-Fabián ME; Alcántara-Ortigoza MA; Hernández-Martínez NL; Berumen J; Jiménez-García R; Gómez-Garza G; González-Del Angel A Nefrologia (Engl Ed); 2020; 40(1):91-98. PubMed ID: 31176519 [TBL] [Abstract][Full Text] [Related]
16. A Case Report of Tuberous Sclerosis and Autosomal Dominant Polycystic Kidney Disease in the Era of Tolvaptan. Guerra-Torres XE Curr Rev Clin Exp Pharmacol; 2023; 18(3):284-290. PubMed ID: 35585803 [TBL] [Abstract][Full Text] [Related]
17. Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay. Boehm D; Bacher J; Neumann HP Am J Kidney Dis; 2007 Jan; 49(1):e11-21. PubMed ID: 17185137 [TBL] [Abstract][Full Text] [Related]
18. Molecular analysis of TSC2/PKD1 contiguous gene deletion syndrome. Oyazato Y; Iijima K; Emi M; Sekine T; Kamei K; Takanashi J; Nakao H; Namai Y; Nozu K; Matsuo M Kobe J Med Sci; 2011 Jun; 57(1):E1-10. PubMed ID: 22169896 [TBL] [Abstract][Full Text] [Related]
19. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Burn TC; Connors TD; Van Raay TJ; Dackowski WR; Millholland JM; Klinger KW; Landes GM Genome Res; 1996 Jun; 6(6):525-37. PubMed ID: 8828041 [TBL] [Abstract][Full Text] [Related]
20. Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated. Cabrera-López C; Bullich G; Martí T; Català V; Ballarín J; Bissler JJ; Harris PC; Ars E; Torra R BMC Med Genet; 2015 Jun; 16():39. PubMed ID: 26077033 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]