Results 101 to 110 of about 18,502 (170)

A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B. [PDF]

CEN Case Rep
Sugimoto H, Sawa N, Oba Y, Mizuno H, Sekine A, Yamanouchi M, Tanaka K, Hasegawa E, Suwabe T, Wada T, Yokoyama T, Miki K, Nakamura Y, Ishii Y, Kono K, Ohashi K, Takazawa Y, Fujimaru T, Mori T, Sohara E, Ubara Y.   +20 more
europepmc   +1 more source

Tuberous sclerosis complex with multisystem involvement: A case report. [PDF]

J Int Med Res
Chen H, Shi M, Yu Y, Zhang Z, Du Z.
europepmc   +1 more source

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

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

Tumour Suppressor Tuberous Sclerosis Complex 1 Protein is Decreased in the Presence of VEPH1 in Some Cancer Cell Lines

, 2018
Suan Chin Yeo
openalex   +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