Results 161 to 170 of about 31,123,995 (208)

An integrated, scaled approach to resolve TSC2 variants of uncertain significance. [PDF]

Nat Commun
Biar CG, Wang ZR, Camp ND, Holmes DL, Wheelock MK, Pendyala S, McGee AV, Gupta P, McEwen AE, Tejura M, Richardson ME, Weyandt JD, Coleman T, Rubin AF, Moore N, Stewart R, Zeiberg D, Vandi AJ, Dawson S, Radivojac P, Starita LM, Carvill GL, James RG, Fowler DM, Calhoun JD.   +24 more
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

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach. [PDF]

PLoS One
Alam T, Akther S.
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

Genotype and Cardiac Rhabdomyoma Phenotype Analyses in Tuberous Sclerosis Complex Diseases. [PDF]

Int J Genomics
Chen X, Yao R, Sheng W, Li J, Chen Y, Fu L, Bei F.   +6 more
europepmc   +1 more source

Exploring the Role of Neutrophils in Pathogenesis of Lymphangioleiomyomatosis. [PDF]

J Innate Immun
O Apos Malley D, Doran KA, McCarthy C.
europepmc   +1 more source

Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical Practice. [PDF]

Cureus
Neto JA, Fonseca J, Melo C, Sousa R, Carvalho M, Rocha DF, Parente Freixo J, Leão M, Grangeia A, Sampaio M.   +9 more
europepmc   +1 more source