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7 in total

1. Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

Authors: Jaime J Barea; Eline van Meel; Stuart Kornfeld; Lynne M Bird
Journal: Am J Med Genet A Date: 2015-06-24 Impact factor: 2.802

2. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.

Authors: Susan J Back; Savvas Andronikou; Tracy Kilborn; Bernard S Kaplan; Kassa Darge
Journal: Pediatr Radiol Date: 2014-10-30

3. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

Authors: Mark B Consugar; Wai C Wong; Patrick A Lundquist; Sandro Rossetti; Vickie J Kubly; Denise L Walker; Laureano J Rangel; Richard Aspinwall; W Patrick Niaudet; Seza Ozen; Albert David; Milen Velinov; Eric J Bergstralh; Kyongtae T Bae; Arlene B Chapman; Lisa M Guay-Woodford; Jared J Grantham; Vicente E Torres; Julian R Sampson; Brian D Dawson; Peter C Harris
Journal: Kidney Int Date: 2008-09-24 Impact factor: 10.612

Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease.

1. Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.

2. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.

3. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

4. Dyspnea in a 43-year-old woman with polycystic kidney disease.

5. Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

6. Beyond polycystic kidney disease.

Review 7. Renal Manifestations of Tuberous Sclerosis Complex.