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Items: 1 to 20 of 33


Imaging Manifestations of a Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis.

Stein JR, Reidman DA.

Case Rep Radiol. 2016;2016:3750450. doi: 10.1155/2016/3750450. Epub 2016 Jan 31.


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.

Hum Mutat. 2016 Apr;37(4):364-70. doi: 10.1002/humu.22951. Epub 2016 Jan 12.


Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.

Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ.

PLoS Genet. 2015 Nov 5;11(11):e1005637. doi: 10.1371/journal.pgen.1005637. eCollection 2015 Nov.


TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex.

Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Nabbout R, Sauter M, Touraine R, O'Callaghan F, Zonnenberg B, Crippa S, Comis S, d'Augères GB, Belousova E, Carter T, Cottin V, Dahlin M, Ferreira JC, Macaya A, Benedik MP, Sander V, Youroukos S, Castellana R, Ulker B, Feucht M.

Orphanet J Rare Dis. 2014 Nov 26;9:182. doi: 10.1186/s13023-014-0182-9.


Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.

Sciacca P, Giacchi V, Mattia C, Greco F, Smilari P, Betta P, Distefano G.

BMC Cardiovasc Disord. 2014 May 9;14:66. doi: 10.1186/1471-2261-14-66.


Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.

Northrup H, Krueger DA; International Tuberous Sclerosis Complex Consensus Group.

Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.


Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features.

Yuan E, Tsai PT, Greene-Colozzi E, Sahin M, Kwiatkowski DJ, Malinowska IA.

Hum Mol Genet. 2012 Oct 1;21(19):4286-300. doi: 10.1093/hmg/dds262. Epub 2012 Jun 29.


Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences.

Seibert D, Hong CH, Takeuchi F, Olsen C, Hathaway O, Moss J, Darling TN.

Ann Intern Med. 2011 Jun 21;154(12):806-13, W-294. doi: 10.7326/0003-4819-154-12-201106210-00008.


Evidence for population variation in TSC1 and TSC2 gene expression.

Jentarra GM, Rice SG, Olfers S, Saffen D, Narayanan V.

BMC Med Genet. 2011 Feb 23;12:29. doi: 10.1186/1471-2350-12-29.


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.

Hum Genet. 2010 Mar;127(5):573-82. doi: 10.1007/s00439-010-0801-z. Epub 2010 Feb 18.


Genetics and molecular biology of tuberous sclerosis complex.

Napolioni V, Curatolo P.

Curr Genomics. 2008 Nov;9(7):475-87. doi: 10.2174/138920208786241243.


Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

Le Caignec C, Kwiatkowski DJ, Küry S, Hardouin JB, Melki J, David A.

Eur J Hum Genet. 2009 Sep;17(9):1165-70. doi: 10.1038/ejhg.2009.28. Epub 2009 Mar 4.


Molecular pathogenesis of lymphangioleiomyomatosis: lessons learned from orphans.

Juvet SC, McCormack FX, Kwiatkowski DJ, Downey GP.

Am J Respir Cell Mol Biol. 2007 Apr;36(4):398-408. Epub 2006 Nov 10. Review.


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.


Complete inactivation of the TSC2 gene leads to formation of hamartomas.

Au KS, Hebert AA, Roach ES, Northrup H.

Am J Hum Genet. 1999 Dec;65(6):1790-5. No abstract available.


High rate of mosaicism in tuberous sclerosis complex.

Verhoef S, Bakker L, Tempelaars AM, Hesseling-Janssen AL, Mazurczak T, Jozwiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindhout D, Halley DJ, van den Ouweland AM.

Am J Hum Genet. 1999 Jun;64(6):1632-7.


Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

van Slegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A.

J Med Genet. 1999 Apr;36(4):285-9.


Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP.

Am J Hum Genet. 1999 May;64(5):1305-15. Review.


Tuberous sclerosis.

O'Callaghan FJ.

BMJ. 1999 Apr 17;318(7190):1019-20. No abstract available.


Germ-line mosaicism in tuberous sclerosis: how common?

Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H.

Am J Hum Genet. 1999 Apr;64(4):986-92.

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