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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 2
1999 1
2000 3
2001 1
2003 2
2004 1
2005 1
2006 3
2007 1
2009 2
2010 4
2011 1
2012 4
2013 3
2014 4
2015 1
2016 4
2017 5
2018 3
2019 2
2020 1
2021 4
2022 2
2023 1
2024 0

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48 results

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Page 1
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. Among authors: sparagana s. 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.
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.
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
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: sparagana sp. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
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.
Felbamate urolithiasis.
Sparagana SP, Strand WR, Adams RC. Sparagana SP, et al. Epilepsia. 2001 May;42(5):682-5. doi: 10.1046/j.1528-1157.2001.32500.x. Epilepsia. 2001. PMID: 11380578 Free article.
Diagnosis of tuberous sclerosis complex.
Roach ES, Sparagana SP. Roach ES, et al. Among authors: sparagana sp. J Child Neurol. 2004 Sep;19(9):643-9. doi: 10.1177/08830738040190090301. J Child Neurol. 2004. PMID: 15563009 Review.
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.
48 results