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Select item 83380161.

Cystlike white matter lesions in tuberous sclerosis.

P Van Tassel, J K Curé, K R Holden

AJNR Am J Neuroradiol. 1997 Aug; 18(7): 1367-73.

PMCID:: PMC8338016

Summary PDF–2.5M

Select item 42039412.

Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex

Ning Liang, Chi Zhang, Patricia Dill, Ganna Panasyuk, Delphine Pion, Vonda Koka, Morgan Gallazzini, Eric N. Olson, Hilaire Lam, Elizabeth P. Henske, Zheng Dong, Udayan Apte, Nicolas Pallet, Randy L. Johnson, Fabiola Terzi, David J. Kwiatkowski, Jean-Yves Scoazec, Guido Martignoni, Mario Pende

J Exp Med. 2014 Oct 20; 211(11): 2249–2263. doi: 10.1084/jem.20140341

PMCID:: PMC4203941

Abstract Article PDF–4.5M

Select item 39375933.

Rapamycin Prevents Epilepsy in a Mouse Model of Tuberous Sclerosis Complex

Ling-Hui Zeng, Lin Xu, David H. Gutmann, Michael Wong

Ann Neurol. Author manuscript; available in PMC 2014 Feb 28.

Published in final edited form as: Ann Neurol. 2008 Apr; 63(4): 444–453. doi: 10.1002/ana.21331

PMCID:: PMC3937593

Abstract Article PDF–1.7M

Select item 32350004.

Clinical Features Distinguish Childhood Chordoma Associated with Tuberous Sclerosis Complex (TSC) from Chordoma in the General Pediatric Population

Mary L. McMaster, Alisa M. Goldstein, Dilys M. Parry

J Med Genet. Author manuscript; available in PMC 2012 Jul 1.

Published in final edited form as: J Med Genet. 2011 Jul; 48(7): 444–449. Published online 2011 Jan 25. doi: 10.1136/jmg.2010.085092

PMCID:: PMC3235000

Abstract Article PDF–338K

Select item 17918495.

Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.

H C Smith, G H Watson, R G Patel, M Super

Arch Dis Child. 1989 Feb; 64(2): 196–200. doi: 10.1136/adc.64.2.196

PMCID:: PMC1791849

Summary Page Browse PDF–1.0M

Select item 17782896.

Forehead plaque: a presenting skin sign in tuberous sclerosis.

A E Fryer, J P Osborne, W Schutt

Arch Dis Child. 1987 Mar; 62(3): 292–293. doi: 10.1136/adc.62.3.292

PMCID:: PMC1778289

Summary Page Browse PDF–449K

Select item 17356807.

Genotype and psychological phenotype in tuberous sclerosis

J Lewis, H Thomas, K Murphy, J Sampson

J Med Genet. 2004 Mar; 41(3): 203–207. doi: 10.1136/jmg.2003.012757

PMCID:: PMC1735680

Summary PDF–201K

Select item 17345288.

Renal angiomyolipomata and learning difficulty in tuberous sclerosis complex

F. O'CALLAGHAN, M. NOAKES, J. OSBORNE

J Med Genet. 2000 Feb; 37(2): 156–157. doi: 10.1136/jmg.37.2.156

PMCID:: PMC1734528

Summary PDF–104K

Select item 17174609.

Tuberous sclerosis complex and Wolff-Parkinson-White syndrome

F O'Callaghan, A Clarke, H Joffe, B Keeton, R Martin, A Salmon, R Thomas, J Osborne

Arch Dis Child. 1998 Feb; 78(2): 159–162. doi: 10.1136/adc.78.2.159

PMCID:: PMC1717460

Summary PDF–87K

Select item 168317410.

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

J L Haines, M P Short, D J Kwiatkowski, A Jewell, E Andermann, B Bejjani, C H Yang, J F Gusella, J A Amos

Am J Hum Genet. 1991 Oct; 49(4): 764–772.

PMCID:: PMC1683174

Summary Page Browse PDF–1.1M

Select item 168277111.

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

H Northrup, D J Kwiatkowski, E S Roach, W B Dobyns, R A Lewis, G E Herman, E Rodriguez, Jr, S P Daiger, S H Blanton

Am J Hum Genet. 1992 Oct; 51(4): 709–720.

PMCID:: PMC1682771

Summary Page Browse PDF–1.7M

Select item 154517912.

Depigmented hair. The earliest sign of tuberous sclerosis.

R C McWilliam, J B Stephenson

Arch Dis Child. 1978 Dec; 53(12): 961–963. doi: 10.1136/adc.53.12.961

PMCID:: PMC1545179

Summary Page Browse PDF–1.0M

Select item 146867813.

Diagnostic and genetical aspects of tuberous sclerosis.

N C Nevin, W G Pearce

J Med Genet. 1968 Dec; 5(4): 273–280. doi: 10.1136/jmg.5.4.273

PMCID:: PMC1468678

Summary Page Browse PDF–1.0M

Select item 137790514.

High rate of mosaicism in tuberous sclerosis complex.

S Verhoef, L Bakker, A M Tempelaars, A L Hesseling-Janssen, T Mazurczak, S Jozwiak, A Fois, G Bartalini, B A Zonnenberg, A J van Essen, D Lindhout, D J Halley, A M van den Ouweland

Am J Hum Genet. 1999 Jun; 64(6): 1632–1637. doi: 10.1086/302412

PMCID:: PMC1377905

Summary PDF–245K

Select item 123493515.

Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs

Sandra L. Dabora, Sergiusz Jozwiak, David Neal Franz, Penelope S. Roberts, Andres Nieto, Joon Chung, Yew-Sing Choy, Mary Pat Reeve, Elizabeth Thiele, John C. Egelhoff, Jolanta Kasprzyk-Obara, Dorota Domanska-Pakiela, David J. Kwiatkowski

Am J Hum Genet. 2001 Jan; 68(1): 64–80. Published online 2000 Dec 8. doi: 10.1086/316951