Thiele EA - Search Results

1

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. Dabora SL, et al. Among authors: thiele ea. Am J Hum Genet. 2002 Oct;71(4):750-8. doi: 10.1086/342718. Epub 2002 Aug 21. Am J Hum Genet. 2002. PMID: 12192641 Free PMC article.

2

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.

3

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. Roberts PS, et al. Among authors: thiele ea. Hum Genet. 2002 Jul;111(1):96-101. doi: 10.1007/s00439-002-0738-y. Epub 2002 Jun 7. Hum Genet. 2002. PMID: 12136241

4

Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis.

Roberts PS, Dabora S, Thiele EA, Franz DN, Jozwiak S, Kwiatkowski DJ. Roberts PS, et al. Among authors: thiele ea. J Med Genet. 2004 May;41(5):e69. doi: 10.1136/jmg.2003.014126. J Med Genet. 2004. PMID: 15121797 Free PMC article. No abstract available.

5

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex.

Goh S, Kwiatkowski DJ, Dorer DJ, Thiele EA. Goh S, et al. Among authors: thiele ea. Neurology. 2005 Jul 26;65(2):235-8. doi: 10.1212/01.wnl.0000168908.78118.99. Neurology. 2005. PMID: 16043792

6

Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature.

Winterkorn EB, Daouk GH, Anupindi S, Thiele EA. Winterkorn EB, et al. Among authors: thiele ea. Pediatr Nephrol. 2006 Aug;21(8):1189-93. doi: 10.1007/s00467-006-0133-3. Epub 2006 Jun 22. Pediatr Nephrol. 2006. PMID: 16791610 Review.

7

Intrafamilial phenotypic variability in tuberous sclerosis complex.

Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA. Lyczkowski DA, et al. Among authors: thiele ea. J Child Neurol. 2007 Dec;22(12):1348-55. doi: 10.1177/0883073807307093. J Child Neurol. 2007. PMID: 18174550

8

Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified.

Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA. Camposano SE, et al. Among authors: thiele ea. Ann Hum Genet. 2009 Mar;73(2):141-6. doi: 10.1111/j.1469-1809.2008.00496.x. Epub 2008 Dec 23. Ann Hum Genet. 2009. PMID: 19133941 Free PMC article.

9

Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.

Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Qin W, et al. Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18. Hum Genet. 2010. PMID: 20165957 Free PMC article.

10

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. Among authors: thiele ea. 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.

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