Results 101 to 110 of about 18,558 (165)

Genotype and subependymal lesion burden influence volumetric response to everolimus in tuberous sclerosis complex-associated subependymal giant cell astrocytoma: A 10-year real-world study. [PDF]

Neurotherapeutics
Su TH, Peng SS, Chen PL, Yang SH, Kuo MF, Fan PC.   +5 more
europepmc   +1 more source

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex. [PDF]

Nephrology (Carlton)
Donald JS, Edmonstone C, Chan DL, Chung CWT, Kennedy SE.   +4 more
europepmc   +1 more source

Clinical characteristics and molecular genetic analysis of 73 cases of tuberous sclerosis complex caused by <i>TSC1/2</i> gene mutations in children. [PDF]

Front Pediatr
Wu X, He MY, Xu HF, He Y, Min XH, Zhao QK, Liang SQ, Ginowree NBN, Hu SH, Yin J, Fan ZH, Din MJU, Zhu M, Zhang G.   +13 more
europepmc   +1 more source

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family. [PDF]

Mol Genet Genomic Med
Tuller E, Samuels JA, Northrup H, Richardson K.   +3 more
europepmc   +1 more source

GSK-J4 Suppresses Tumorigenesis by Targeting the PERK-c-Myc Pathway Through Endoplasmic Reticulum Stress Activation in Tuberous Sclerosis Complex. [PDF]

Int J Mol Sci
Lei X, Lang T, Li P, Wu C.
europepmc   +1 more source

<i>TSC2</i> GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex. [PDF]

Neurol Genet
Utami KH, Han VX, Mohammad Yusof NAB, Ramaswamy Y, Feng J, Tay SKH, Langley SR, Pouladi MA.   +7 more
europepmc   +1 more source

A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified. [PDF]

Oxf Med Case Reports
Salahat D, Mujahed R, Jaber M, Tahayneh M, Khalifa N, Alnjoom Q, Sabra R, Doudin M, Sabra R, AbuAlrub I.   +9 more
europepmc   +1 more source

Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation-a case report. [PDF]

J Med Case Rep
Kornafeld A, Krencz I, Kipp BR, Burger CD, Stowell JT, Khoor A.   +5 more
europepmc   +1 more source

From the spectrum of PEComa: a renal angiomyolipoma. [PDF]

J Surg Case Rep
Kamble SV, Younis MU, Vadeyar HJ.
europepmc   +1 more source

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome. [PDF]

Front Pediatr
Akiba T, Shimada S, Ikegami M, Nishizaki N, Hashizume A, Nozaki T, Nagashima Y, Tsujimura A, Nakazawa-Tanaka N, Miyano G, Takahashi K, Shoji H.   +11 more
europepmc   +1 more source