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Items: 1 to 20 of 390

1.

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.

PMID:
11812941
2.

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.

3.

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.

PMID:
17268401
4.

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.

PMID:
15007723
5.

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. doi: 10.1097/DAD.0b013e3181970e44.

PMID:
19590422
6.

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.

Torra R, Badenas C, Darnell A, Camacho JA, Aspinwall R, Harris PC, Estivill X.

Am J Kidney Dis. 1998 Jun;31(6):1038-43.

PMID:
9631851
7.

A tuberous sclerosis patient with a large TSC2 and PKD1 gene deletion shows extrarenal signs of autosomal dominant polycystic kidney disease.

Longa L, Brusco A, Carbonara C, Polidoro S, Scolari F, Valzorio B, Riegler P, Tardanico R, Migone N.

Contrib Nephrol. 1997;122:91-5. No abstract available.

PMID:
9399046
8.

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. doi: 10.1007/s00247-014-3147-1.

PMID:
25355409
9.

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.

PMID:
7894481
10.

The TSC2/PKD1 contiguous gene syndrome.

Harris PC.

Contrib Nephrol. 1997;122:76-82. No abstract available.

PMID:
9399043
12.

Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.

Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ.

Genes Chromosomes Cancer. 1995 Aug;13(4):295-8.

PMID:
7547639
13.

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome.

Dauwerse JG, Bouman K, van Essen AJ, van Der Hout AH, Kolsters G, Breuning MH, Peters DJ.

J Med Genet. 2002 Feb;39(2):136-41. No abstract available.

14.

Carcinomalike monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis: a clinicopathologic and genetic study.

Martignoni G, Pea M, Bonetti F, Zamboni G, Carbonara C, Longa L, Zancanaro C, Maran M, Brisigotti M, Mariuzzi GM.

Am J Surg Pathol. 1998 Jun;22(6):663-72.

PMID:
9630173
15.
16.
17.

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. doi: 10.1177/1066896908319578.

PMID:
18611938
18.

Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.

Kleymenova E, Ibraghimov-Beskrovnaya O, Kugoh H, Everitt J, Xu H, Kiguchi K, Landes G, Harris P, Walker C.

Mol Cell. 2001 Apr;7(4):823-32.

19.

Tuberous sclerosis and the kidney: from mesenchyme to epithelium, and beyond.

Henske EP.

Pediatr Nephrol. 2005 Jul;20(7):854-7. Review.

PMID:
15856327
20.

The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas.

Plank TL, Logginidou H, Klein-Szanto A, Henske EP.

Mod Pathol. 1999 May;12(5):539-45.

PMID:
10349994
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