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TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: sparagana sp. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H. Au KS, et al. Among authors: sparagana sp. Genet Med. 2007 Feb;9(2):88-100. doi: 10.1097/gim.0b013e31803068c7. Genet Med. 2007. PMID: 17304050 Free article.
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group. Northrup H, et al. Pediatr Neurol. 2021 Oct;123:50-66. doi: 10.1016/j.pediatrneurol.2021.07.011. Epub 2021 Jul 24. Pediatr Neurol. 2021. PMID: 34399110 Free article.
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: sparagana sp. Hum Mutat. 2012 Mar;33(3):476-9. doi: 10.1002/humu.22007. Epub 2012 Jan 17. Hum Mutat. 2012. PMID: 22161988
Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex.
Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Among authors: sparagana sp. Hum Mutat. 2013 Jan;34(1):167-75. doi: 10.1002/humu.22202. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22903760
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Ekong R, Nellist M, Hoogeveen-Westerveld M, Wentink M, Panzer J, Sparagana S, Emmett W, Dawson NL, Malinge MC, Nabbout R, Carbonara C, Barberis M, Padovan S, Futema M, Plagnol V, Humphries SE, Migone N, Povey S. Ekong R, et al. Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12. Hum Mutat. 2016. PMID: 26703369 Free PMC article.
Tuberous sclerosis complex.
Sparagana SP, Roach ES. Sparagana SP, et al. Curr Opin Neurol. 2000 Apr;13(2):115-9. doi: 10.1097/00019052-200004000-00001. Curr Opin Neurol. 2000. PMID: 10987566 Review.
52 results