Results 161 to 170 of about 25,325 (232)

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

Síndrome de genes contiguos TSC2 / PKD1

Nefrología, 2017
Cammarata-Scalisi, Francisco, Vidales Moreno, Concha, Zara-Chirinos, Carmen, Bracho, Ana, Pérez, Diomar   +4 more
openaire   +4 more sources

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex. [PDF]

BMC Pediatr
Othman AA, Sadek AA, Aladawy MA, Aziz SP, Sedky A, Mansour TMM, Younis MMS, Abdelatif RG, Hassan AEM, Aboelmagd MA, Mohamed M, Mohamed KR, Elkousy SM, Montaser Elkady NM, Khang R, Ryu SW, Abdelkreem E.   +16 more
europepmc   +1 more source

Genomic insights into uterine leiomyosarcoma: Unraveling KMT2D, CREBBP, NOTCH2, TSC2, ATM, and GNAS signatures. [PDF]

Clinics (Sao Paulo)
Dos Anjos LG, da Costa LT, Bizinelli D, Miranda TT, Baracat EC, Carvalho KC.   +5 more
europepmc   +1 more source

Primary Hepatic Perivascular Epithelioid Cell Tumors: From Diagnosis to Treatment. [PDF]

Life (Basel)
Paspala A, Dorovinis P, Vlachos DK, Keramida MD, Prevezanos D, Kossenas K, Machairas N, Kykalos S, Kotsifa E, Driva T, Angelis A, Sakellariou S, Sotiropoulos GC.   +12 more
europepmc   +1 more source

Renal Cell Carcinoma With Hemangioblastoma-Like Features, Fibromyomatous Stroma, and TSC1 Mutation. [PDF]

Case Rep Med
Yao S, Huang J, Wang M, Quan C.
europepmc   +1 more source

Case Report: Induction of labor and postpartum management for fetal cardiac rhabdomyoma: a genetic etiology-based analysis of three cases. [PDF]

Front Pediatr
Liu X, Fu H, Ren Q, Shu H, Wu G, Xu H, Feng X.   +6 more
europepmc   +1 more source

Impaired mTOR/SREBP1-Mediated Lipogenesis as a Mechanism of Hepatic Glycogen Accumulation in a Carnivorous Fish Model, Largemouth Bass (Micropterus salmoides). [PDF]

FASEB J
Tao J, Chen S, Liu N, Gong Y, Zhang S, He J, Huang X, Chen N, Li S.   +8 more
europepmc   +1 more source

Neural crest cell signatures drive tumorigenesis in tuberous sclerosis complex and lymphangioleiomyomatosis. [PDF]

JCI Insight
Unachukwu UJ, Garcia EB, Rai N, D'Armiento JM.   +3 more
europepmc   +1 more source

High prevalence of TSC2 mutations in lung tissue samples from patients with sporadic lymphangioleiomyomatosis. [PDF]

Eur Respir J
Bou Farhat E, Gruber VE, Klonowska K, Herbert ZT, Miller S, Langfort R, Mitsuishi Y, Johnson SR, Radzikowska E, Seyama K, Henske EP, Moss J, Hornick JL, Kwiatkowski DJ.   +13 more
europepmc   +1 more source