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Items: 1 to 20 of 116

1.

Aggressive retinal astrocytomas in 4 patients with tuberous sclerosis complex.

Shields JA, Eagle RC Jr, Shields CL, Marr BP.

Arch Ophthalmol. 2005 Jun;123(6):856-63. Review. No abstract available.

PMID:
15955990
2.

Monozygotic twins with tuberous sclerosis discordant for the severity of developmental deficits.

Humphrey A, Higgins JN, Yates JR, Bolton PF.

Neurology. 2004 Mar 9;62(5):795-8. Erratum in: Neurology. 2004 Nov 9;63(9):1764.

PMID:
15007135
3.

Genotype and psychological phenotype in tuberous sclerosis.

Lewis JC, Thomas HV, Murphy KC, Sampson JR.

J Med Genet. 2004 Mar;41(3):203-7. No abstract available.

4.

Tuberous sclerosis in the adult. An unusual case without mental deficiency or epilepsy.

SCHEIG RL, BORNSTEIN P.

Arch Intern Med. 1961 Nov;108:789-95. No abstract available.

PMID:
14498157
5.

Tuberous sclerosis. Special reference to the microscopic alterations in the cutaneous hamartomas.

NICKEL WR, REED WB.

Arch Dermatol. 1962 Feb;85:209-26. No abstract available.

PMID:
14479476
6.

[Tuberous sclerosis (report of Yugoslav cases)].

HUDOLIN V.

J Genet Hum. 1961 Jul;10:128-55. French. No abstract available.

PMID:
14449672
7.

Tuberous sclerosis: a report of 16 cases in two family trees revealing genetic dominance.

MARSHALL D, SAUL GB, SACHS E Jr.

N Engl J Med. 1959 Nov 26;261:1102-5. No abstract available.

PMID:
14421523
8.

Tuberous sclerosis: a review and report of eight cases.

DE LA CRUZ FF, LAVECK GD.

Am J Ment Defic. 1962 Nov;67:369-80. No abstract available.

PMID:
14025831
9.

Neurocutaneous syndromes in the M kindred; a case of simultaneous occurrence of tuberous sclerosis an neurofibromatosis.

SCHULL WJ, CROWE FW.

Neurology. 1953 Dec;3(12):904-9. No abstract available.

PMID:
13154572
10.

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.

Jeganathan D, Fox MF, Young JM, Yates JR, Osborne JP, Povey S.

Hum Genet. 2002 Dec;111(6):555-65. Epub 2002 Sep 19.

PMID:
12436247
11.

Cyst-like cerebral lesions in tuberous sclerosis.

Rott HD, Lemcke B, Zenker M, Huk W, Horst J, Mayer K.

Am J Med Genet. 2002 Sep 1;111(4):435-9.

PMID:
12210306
12.

Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures.

Uhlmann EJ, Wong M, Baldwin RL, Bajenaru ML, Onda H, Kwiatkowski DJ, Yamada K, Gutmann DH.

Ann Neurol. 2002 Sep;52(3):285-96.

PMID:
12205640
13.

TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.

Inoki K, Li Y, Zhu T, Wu J, Guan KL.

Nat Cell Biol. 2002 Sep;4(9):648-57.

PMID:
12172553
14.

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blümcke I.

Ann Neurol. 2002 Jul;52(1):29-37.

PMID:
12112044
15.

TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.

Langkau N, Martin N, Brandt R, Zügge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B.

Eur J Pediatr. 2002 Jul;161(7):393-402. Epub 2002 Jun 8.

PMID:
12111193
16.

Heterozygosity for the tuberous sclerosis complex (TSC) gene products results in increased astrocyte numbers and decreased p27-Kip1 expression in TSC2+/- cells.

Uhlmann EJ, Apicelli AJ, Baldwin RL, Burke SP, Bajenaru ML, Onda H, Kwiatkowski D, Gutmann DH.

Oncogene. 2002 Jun 6;21(25):4050-9.

17.

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.

Kwiatkowski DJ, Zhang H, Bandura JL, Heiberger KM, Glogauer M, el-Hashemite N, Onda H.

Hum Mol Genet. 2002 Mar 1;11(5):525-34.

18.

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O.

J Hum Genet. 2002;47(1):20-8.

PMID:
11829138
19.

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

Hodges AK, Li S, Maynard J, Parry L, Braverman R, Cheadle JP, DeClue JE, Sampson JR.

Hum Mol Genet. 2001 Dec 1;10(25):2899-905.

20.

Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V.

Am J Hum Genet. 2001 Sep;69(3):493-503. Epub 2001 Jul 20.

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