Thiele EA - Search Results

1

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.

Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Giannikou K, et al. Among authors: thiele ea. Mod Pathol. 2021 Feb;34(2):264-279. doi: 10.1038/s41379-020-00659-9. Epub 2020 Oct 13. Mod Pathol. 2021. PMID: 33051600 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

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.

5

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.

6

Subependymal giant cell tumors in tuberous sclerosis complex.

Goh S, Butler W, Thiele EA. Goh S, et al. Among authors: thiele ea. Neurology. 2004 Oct 26;63(8):1457-61. doi: 10.1212/01.wnl.0000142039.14522.1a. Neurology. 2004. PMID: 15505165

7

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

8

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

9

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.

10

Role of mutational analysis in diagnosis of tuberous sclerosis complex.

Vail EA, Rakowski SK, Numis AL, Thiele EA. Vail EA, et al. Among authors: thiele ea. Clin Genet. 2009 Mar;75(3):282-5. doi: 10.1111/j.1399-0004.2008.01129.x. Clin Genet. 2009. PMID: 19250385

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