427 related articles for article (PubMed ID: 30036593)
1. Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study.
Li S; Zhang Y; Wang Z; Yang Y; Gao W; Li D; Wei J
Hum Pathol; 2018 Dec; 82():61-67. PubMed ID: 30036593
[TBL] [Abstract][Full Text] [Related]
2. Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
Jiangyi W; Gang G; Guohai S; Dingwei Y
Aging (Albany NY); 2020 Jan; 12(1):756-766. PubMed ID: 31927531
[TBL] [Abstract][Full Text] [Related]
3. Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY; Luk HM; Hau EW; Cheng SS; Yu KP; Ho S; Mok MT; Lo IF
Eur J Med Genet; 2022 Oct; 65(10):104573. PubMed ID: 35918040
[TBL] [Abstract][Full Text] [Related]
4. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K; Malinowska IA; Pugh TJ; Yan R; Tseng YY; Oh C; Kim J; Tyburczy ME; Chekaluk Y; Liu Y; Alesi N; Finlay GA; Wu CL; Signoretti S; Meyerson M; Getz G; Boehm JS; Henske EP; Kwiatkowski DJ
PLoS Genet; 2016 Aug; 12(8):e1006242. PubMed ID: 27494029
[TBL] [Abstract][Full Text] [Related]
5. Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C; Zhang Y; Zhang YS; Zhang MX; Ning J; Chen MF; Li Y; Qi L; Zu XB; Li YL; Cai Y
Orphanet J Rare Dis; 2022 Jul; 17(1):288. PubMed ID: 35870981
[TBL] [Abstract][Full Text] [Related]
6. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes.
Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L
Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612
[TBL] [Abstract][Full Text] [Related]
7. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece.
Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE
Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670
[TBL] [Abstract][Full Text] [Related]
8. Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Manzanilla-Romero HH; Weis D; Schnaiter S; Rudnik-Schöneborn S
Am J Med Genet A; 2021 Dec; 185(12):3851-3858. PubMed ID: 34328706
[TBL] [Abstract][Full Text] [Related]
9. Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.
Aronow ME; Nakagawa JA; Gupta A; Traboulsi EI; Singh AD
Ophthalmology; 2012 Sep; 119(9):1917-23. PubMed ID: 22608477
[TBL] [Abstract][Full Text] [Related]
10. "Renal Cell Carcinoma With Leiomyomatous Stroma" Harbor Somatic Mutations of TSC1, TSC2, MTOR, and/or ELOC (TCEB1): Clinicopathologic and Molecular Characterization of 18 Sporadic Tumors Supports a Distinct Entity.
Shah RB; Stohr BA; Tu ZJ; Gao Y; Przybycin CG; Nguyen J; Cox RM; Rashid-Kolvear F; Weindel MD; Farkas DH; Trpkov K; McKenney JK
Am J Surg Pathol; 2020 May; 44(5):571-581. PubMed ID: 31850909
[TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.
Li S; Zhang Y; Wei J; Zhang X
Oncol Lett; 2017 Dec; 14(6):7085-7090. PubMed ID: 29344138
[TBL] [Abstract][Full Text] [Related]
12. Renal angiomyolipoma (AML) harboring a missense mutation of
Idogawa M; Hida T; Tanaka T; Ohira N; Tange S; Sasaki Y; Uhara H; Masumori N; Tokino T; Natori H
Cancer Biol Ther; 2020 Apr; 21(4):315-319. PubMed ID: 31847710
[TBL] [Abstract][Full Text] [Related]
13. Lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas, and renal cell carcinoma.
Gupta S; Stanton ML; Reynolds JP; Whaley RD; Herrera-Hernandez L; Jimenez RE; Cheville JC
Hum Pathol; 2022 Nov; 129():123-139. PubMed ID: 36115585
[TBL] [Abstract][Full Text] [Related]
14. Reprint of: lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas & renal cell carcinoma.
Gupta S; Stanton ML; Reynolds JP; Whaley RD; Herrera-Hernandez L; Jimenez RE; Cheville JC
Hum Pathol; 2023 Mar; 133():136-152. PubMed ID: 36894367
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
[TBL] [Abstract][Full Text] [Related]
16. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A; Au KS; Northrup H
Am J Med Genet C Semin Med Genet; 2018 Sep; 178(3):281-290. PubMed ID: 30255984
[TBL] [Abstract][Full Text] [Related]
17. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.
Robinson J; Uzun O; Loh NR; Harris IR; Woolley TE; Harwood AJ; Gardner JF; Syed YA
BMC Med; 2022 Apr; 20(1):123. PubMed ID: 35440050
[TBL] [Abstract][Full Text] [Related]
18. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M; Belousova E; Benedik MP; Carter T; Cottin V; Curatolo P; Dahlin M; D'Amato L; d'Augères GB; de Vries PJ; Ferreira JC; Feucht M; Fladrowski C; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Marques R; Nabbout R; O'Callaghan F; Qin J; Sander V; Shah S; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen A; Kingswood JC;
Orphanet J Rare Dis; 2021 Jul; 16(1):301. PubMed ID: 34229737
[TBL] [Abstract][Full Text] [Related]
19. Urokinase-type plasminogen activator (uPA) is critical for progression of tuberous sclerosis complex 2 (TSC2)-deficient tumors.
Stepanova V; Dergilev KV; Holman KR; Parfyonova YV; Tsokolaeva ZI; Teter M; Atochina-Vasserman EN; Volgina A; Zaitsev SV; Lewis SP; Zabozlaev FG; Obraztsova K; Krymskaya VP; Cines DB
J Biol Chem; 2017 Dec; 292(50):20528-20543. PubMed ID: 28972182
[TBL] [Abstract][Full Text] [Related]
20. High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma.
Zhao Y; Guo H; Wang W; Zheng G; Wang Z; Wang X; Zhang Y
Hum Genomics; 2021 Jul; 15(1):43. PubMed ID: 34243823
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
