Results 141 to 150 of about 31,123,995 (208)

A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing. [PDF]

J Genet Eng Biotechnol
Zhang C, Li S, Leng R, Deng M, Yang G.
europepmc   +1 more source

Molecular Characterization of <i>TSC1</i> and <i>TSC2</i> Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients. [PDF]

Hum Mutat
Avgeris SN, Fostira F, Apostolou P, Delimitsou A, Smyrniotis S, Yannoukakos D, Stravopodis DJ, Syntichaki P, Voutsinas GE.   +8 more
europepmc   +1 more source

Subependymal Giant Cell Astrocytoma Without Clinical Evidence of Tuberous Sclerosis Complex: Diagnostic and Molecular Insights-Case Report. [PDF]

Neurol Int
Pickler JGJ, Fronza Junior H, Pedack FR, Gabardo LA, Barros GC, Batista SB, Silva BL, de França PHC, Roesler R, Coelho KMPA.   +9 more
europepmc   +1 more source

Late-Onset Diagnosis of Tuberous Sclerosis Complex Revealed by Renal Angiomyolipoma: A Case Report. [PDF]

Clin Case Rep
Fekih A, Heni W, Messaoudi C, Selmi Y, Touati D, Elloumi Z, Labidi J.   +6 more
europepmc   +1 more source

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review. [PDF]

Clin Case Rep
Gurmu MW, Negash S, Mohammed A, Alemu H, Hordofa DF, Abere M, Million L, Mezgebu E.   +7 more
europepmc   +1 more source

Case Report: Rapid progression to end-stage renal disease within 3 years in tuberous sclerosis complex challenging conventional risk stratification. [PDF]

Front Med (Lausanne)
Yang R, Zheng X, Wang T, Zhang Y.
europepmc   +1 more source

Kidney Cyst Epithelia in Tuberous Sclerosis Complex (TSC) Exhibit Propagation and Expansion of A-Intercalated, but Loss of B-Intercalated and Principal Cells: The Role of FOXI1, FOXP1, and DMRT2 Transcription Factors. [PDF]

Int J Mol Sci
Soleimani M, Zahedi K, Brooks M, In JG, Barone S.   +4 more
europepmc   +1 more source

In vitro study of TSC1 deficiency in preadipocytes: insights into development and treatment options for tuberous sclerosis related lipomatosis. [PDF]

Orphanet J Rare Dis
Friedrich JE, Hentschel J, Richter S, Kiep H, Arélin M, Platzer K, Schulz T, Merkenschlager A, Kiess W, Mayer S, Jamra RA, Duc DL, Garten A, Kirstein AS.   +13 more
europepmc   +1 more source

Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management. [PDF]

Ultrasound Obstet Gynecol
Cai X, Liu J, Zheng W, Jiao Y, Lou Y, Deng M, Zhao W, Yan K, Sun L.   +8 more
europepmc   +1 more source

Pancreatic neuroendocrine tumors in patients with tuberous sclerosis: a multicenter study and systematic review. [PDF]

J Endocr Soc
Shekhda KM, Howat J, Gao Y, Bel-Ange A, Grozinsky-Glasberg S, Kaltsas G, Ho KMA, Hayes AR, Mandair D, Toumpanakis C, Karra E, Dixon RA, Donnelly D, Jones EA, Jones CH, O'Callaghan F, Sharma A, Slaney K, Frydman A, Srirajaskanthan R, Kibrya N, Caplin M, Elmslie F, Grossman A.   +23 more
europepmc   +1 more source