Results 131 to 140 of about 36,256,275 (202)

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

, 2014
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably.
Friedrich, Reinhard E., Hagel, Christian, Friedrich, RE, Hagel, C   +3 more
core   +1 more source

Tuberous sclerosis complex [PDF]

, 2014
Tuberous sclerosis complex is a genetic disorder with a characteristic development of a benign tumorous growth in various tissues. Clinical picture is very heterogeneous, resulting in difficult diagnosis and unrecognized patients.
Alexander Jerman, Jelka Lindič
core  

Study of the relationship between tuberous sclerosis complex and autistic disorder

, 2006
There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD).
Wong, V, Virginia Wong
core   +1 more source

A bitopic mTORC inhibitor reverses phenotypes in a tuberous sclerosis complex model

Scientific Reports
Neural stem cells (NSCs) of the ventricular-subventricular zone (V-SVZ) generate diverse cell types including striatal glia during the neonatal period. NSC progeny uncouple stem cell-related mRNA transcripts from being translated during differentiation ...
Sulagna Mukherjee, Matthew J. Wolan, Mary K. Scott, Victoria A. Riley, Aidan M. Sokolov, David M. Feliciano   +5 more
doaj   +1 more source

Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex. [PDF]

Front Genet
Zhang XF, Wang YJ, Li SX, Liu P, Hu WG.
europepmc   +1 more source

Delayed Diagnosis of Tuberous Sclerosis Complex Presenting as Abnormal Uterine Bleeding: A Case Report and Literature Review. [PDF]

Clin Case Rep
Bezabih KT, Belay HS, Kebede ML, Aderu AK, Gebreyes MD, Jibicho KH, Talemahu AA, Merid EF, Tukeni KN.   +8 more
europepmc   +1 more source

23 years of mTOR inhibition for tuberous sclerosis: Practical considerations. [PDF]

Neurotherapeutics
Franz DN.
europepmc   +1 more source

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

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

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