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Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. Dabora SL, et al. Am J Hum Genet. 2001 Jan;68(1):64-80. doi: 10.1086/316951. Epub 2000 Dec 8. Am J Hum Genet. 2001. PMID: 11112665 Free PMC article.
Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease.
Dabora SL, Franz DN, Ashwal S, Sagalowsky A, DiMario FJ Jr, Miles D, Cutler D, Krueger D, Uppot RN, Rabenou R, Camposano S, Paolini J, Fennessy F, Lee N, Woodrum C, Manola J, Garber J, Thiele EA. Dabora SL, et al. PLoS One. 2011;6(9):e23379. doi: 10.1371/journal.pone.0023379. Epub 2011 Sep 6. PLoS One. 2011. PMID: 21915260 Free PMC article. Clinical Trial.
Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis.
Malinowska IA, Lee N, Kumar V, Thiele EA, Franz DN, Ashwal S, Sagalowsky A, Dimario FJ Jr, Cutler D, Krueger D, Camposano S, Paolini J, Dabora SL. Malinowska IA, et al. Among authors: dabora sl. PLoS One. 2013;8(2):e56199. doi: 10.1371/journal.pone.0056199. Epub 2013 Feb 20. PLoS One. 2013. PMID: 23437092 Free PMC article. Clinical Trial.
18 results