285 related articles for article (PubMed ID: 19590422)
1. 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]
2. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
Back SJ; Andronikou S; Kilborn T; Kaplan BS; Darge K
Pediatr Radiol; 2015 Mar; 45(3):386-95. PubMed ID: 25355409
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Tuberous sclerosis complex with polycystic kidney disease of the adult type: the TSC2/ADPKD1 contiguous gene syndrome.
Bisceglia M; Galliani C; Carosi I; Simeone A; Ben-Dor D
Int J Surg Pathol; 2008 Oct; 16(4):375-85. PubMed ID: 18611938
[TBL] [Abstract][Full Text] [Related]
7. Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.
Bonnet CS; Aldred M; von Ruhland C; Harris R; Sandford R; Cheadle JP
Hum Mol Genet; 2009 Jun; 18(12):2166-76. PubMed ID: 19321600
[TBL] [Abstract][Full Text] [Related]
8. Renal disease in adults with TSC2/PKD1 contiguous gene syndrome.
Martignoni G; Bonetti F; Pea M; Tardanico R; Brunelli M; Eble JN
Am J Surg Pathol; 2002 Feb; 26(2):198-205. PubMed ID: 11812941
[TBL] [Abstract][Full Text] [Related]
9. Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.
Laass MW; Spiegel M; Jauch A; Hahn G; Rupprecht E; Vogelberg C; Bartsch O; Huebner A
Pediatr Nephrol; 2004 Jun; 19(6):602-8. PubMed ID: 15007723
[TBL] [Abstract][Full Text] [Related]
10. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.
Consugar MB; Wong WC; Lundquist PA; Rossetti S; Kubly VJ; Walker DL; Rangel LJ; Aspinwall R; Niaudet WP; Ozen S; David A; Velinov M; Bergstralh EJ; Bae KT; Chapman AB; Guay-Woodford LM; Grantham JJ; Torres VE; Sampson JR; Dawson BD; Harris PC;
Kidney Int; 2008 Dec; 74(11):1468-79. PubMed ID: 18818683
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Shang S; Mei Y; Wang T; Zheng X; Chen K; Xiong S; Dong Y; Chang Y; Wu X; Kong X; Tan M; Wu L; Zhang Y; Xiao Y; Xie Y; Cai G; Chen X; Li Q
Clin Nephrol; 2022 Jun; 97(6):328-338. PubMed ID: 35142283
[TBL] [Abstract][Full Text] [Related]
12. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.
Sampson JR; Maheshwar MM; Aspinwall R; Thompson P; Cheadle JP; Ravine D; Roy S; Haan E; Bernstein J; Harris PC
Am J Hum Genet; 1997 Oct; 61(4):843-51. PubMed ID: 9382094
[TBL] [Abstract][Full Text] [Related]
13. Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.
Furlano M; Barreiro Y; Martí T; Facundo C; Ruiz-García C; DaSilva I; Ayasreh N; Cabrera-López C; Ballarín J; Ars E; Torra R
Nefrologia; 2017; 37(1):87-92. PubMed ID: 27595512
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. TSC2/PKD1 contiguous gene syndrome in an adult.
Culty T; Molinie V; Lebret T; Savareux L; Souid M; Delahousse M; Botto H
Minerva Urol Nefrol; 2006 Dec; 58(4):351-4. PubMed ID: 17268401
[TBL] [Abstract][Full Text] [Related]
16. Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome.
Gupta S; Lohse CM; Rowsey R; McCarthy MR; Shen W; Herrera-Hernandez L; Boorjian SA; Houston Thompson R; Jimenez RE; Leibovich BC; Cheville JC
Eur Urol; 2022 Mar; 81(3):229-233. PubMed ID: 34876325
[TBL] [Abstract][Full Text] [Related]
17. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
[TBL] [Abstract][Full Text] [Related]
18. A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease.
Longa L; Scolari F; Brusco A; Carbonara C; Polidoro S; Valzorio B; Riegler P; Migone N; Maiorca R
Nephrol Dial Transplant; 1997 Sep; 12(9):1900-7. PubMed ID: 9306341
[TBL] [Abstract][Full Text] [Related]
19. Arachnoid cysts in tuberous sclerosis complex.
Boronat S; Caruso P; Auladell M; Van Eeghen A; Thiele EA
Brain Dev; 2014 Oct; 36(9):801-6. PubMed ID: 24325802
[TBL] [Abstract][Full Text] [Related]
20. [TSC2/PKD1 contiguous gene deletion syndrome].
Llamas Velasco S; Camacho Salas A; Vidales Moreno C; Ceballos Rodríguez RM; Murcia García FJ; Simón de la Heras R
An Pediatr (Barc); 2013 Jul; 79(1):42-5. PubMed ID: 23402778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]