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Items: 18


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.

PLoS One. 2013;8(2):e56199. doi: 10.1371/journal.pone.0056199. Epub 2013 Feb 20.


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.

PLoS One. 2011;6(9):e23379. doi: 10.1371/journal.pone.0023379. Epub 2011 Sep 6.


Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model.

Rauktys A, Lee N, Lee L, Dabora SL.

BMC Dermatol. 2008 Jan 28;8:1. doi: 10.1186/1471-5945-8-1.


PDGFRs are critical for PI3K/Akt activation and negatively regulated by mTOR.

Zhang H, Bajraszewski N, Wu E, Wang H, Moseman AP, Dabora SL, Griffin JD, Kwiatkowski DJ.

J Clin Invest. 2007 Mar;117(3):730-8. Epub 2007 Feb 8.


Efficacy of a rapamycin analog (CCI-779) and IFN-gamma in tuberous sclerosis mouse models.

Lee L, Sudentas P, Donohue B, Asrican K, Worku A, Walker V, Sun Y, Schmidt K, Albert MS, El-Hashemite N, Lader AS, Onda H, Zhang H, Kwiatkowski DJ, Dabora SL.

Genes Chromosomes Cancer. 2005 Mar;42(3):213-27.


Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients.

Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ.

Am J Hum Genet. 2002 Oct;71(4):750-8. Epub 2002 Aug 21.


SNP identification, haplotype analysis, and parental origin of mutations in TSC2.

Roberts PS, Chung J, Jozwiak S, Dabora SL, Franz DN, Thiele EA, Kwiatkowski DJ.

Hum Genet. 2002 Jul;111(1):96-101. Epub 2002 Jun 7.


Characterisation of six large deletions in TSC2 identified using long range PCR suggests diverse mechanisms including Alu mediated recombination.

Dabora SL, Nieto AA, Franz D, Jozwiak S, Van Den Ouweland A, Kwiatkowski DJ.

J Med Genet. 2000 Nov;37(11):877-83. No abstract available.


Denaturing high-performance liquid chromatography (DHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC1 gene.

Roberts PS, Jozwiak S, Kwiatkowski DJ, Dabora SL.

J Biochem Biophys Methods. 2001 Jan 30;47(1-2):33-7.


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.

Am J Hum Genet. 2001 Jan;68(1):64-80. Epub 2000 Dec 8.


Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

Choy YS, Dabora SL, Hall F, Ramesh V, Niida Y, Franz D, Kasprzyk-Obara J, Reeve MP, Kwiatkowski DJ.

Ann Hum Genet. 1999 Sep;63(Pt 5):383-91.


Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE.

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ.

Ann Hum Genet. 1998 Nov;62(Pt 6):491-504.


Cultured cell extracts support organelle movement on microtubules in vitro.

Dabora SL, Sheetz MP.

Cell Motil Cytoskeleton. 1988;10(4):482-95.

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