BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

272 related articles for article (PubMed ID: 32873234)

  • 1. A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.
    Mongrain V; van Doesburg NH; Rypens F; Fallet-Bianco C; Maassen J; Dufort-Gervais J; Côté L; Major P
    BMC Neurol; 2020 Sep; 20(1):324. PubMed ID: 32873234
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of genotypes, EEG and phenotypes of tuberous sclerosis complex patients].
    He J; Zhou WJ; Shi J; Lin JL; Zhang BQ; Sun ZH
    Zhonghua Yi Xue Za Zhi; 2020 Jan; 100(2):136-140. PubMed ID: 31937054
    [No Abstract]   [Full Text] [Related]  

  • 3. A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.
    He S; Lv N; Bao H; Wang X; Li J
    BMC Med Genet; 2020 Sep; 21(1):180. PubMed ID: 32917147
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Diagnosis of tuberous sclerosis complex focusing on prenatal period].
    Filipová H; Procházka M; Vrtěl R
    Ceska Gynekol; 2016 Apr; 81(2):147-54. PubMed ID: 27457398
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis.
    Kerfoot C; Wienecke R; Menchine M; Emelin J; Maize JC; Welsh CT; Norman MG; DeClue JE; Vinters HV
    Brain Pathol; 1996 Oct; 6(4):367-75. PubMed ID: 8944308
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
    Abdelwahed M; Touraine R; Ben-Rhouma B; Dhieb D; Mars M; Kammoun K; Hachicha J; Triki C; Kamoun H; Keskes-Ammar L; Belguith N
    IUBMB Life; 2019 Dec; 71(12):1937-1945. PubMed ID: 31317616
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.
    Back SJ; Andronikou S; Kilborn T; Kaplan BS; Darge K
    Pediatr Radiol; 2015 Mar; 45(3):386-95. PubMed ID: 25355409
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases.
    Chen J; Wang J; Sun H; Gu X; Hao X; Fu Y; Zhang Y; Liu X; Zhang H; Han L; He Y
    Ultrasound Obstet Gynecol; 2019 Jul; 54(1):103-109. PubMed ID: 29877000
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis.
    Chen CP; Su YN; Hung CC; Shih JC; Wang W
    J Formos Med Assoc; 2006 Jul; 105(7):599-603. PubMed ID: 16877242
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review.
    Han B; Lee J; Kwak YJ; Kim HY; Lee KH; Shim Y; Lee H; Park SH
    Diagn Pathol; 2021 Aug; 16(1):83. PubMed ID: 34465349
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
    Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
    Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.
    Mowrey K; Koenig MK; Szabo CA; Samuels J; Mulligan S; Pearson DA; Northrup H
    Mol Genet Genomic Med; 2020 Jul; 8(7):e1296. PubMed ID: 32383331
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Prenatal sonographic diagnosis of tuberous sclerosis complex.
    Gedikbasi A; Oztarhan K; Ulker V; Aslan G; Gul A; Sener-Arslan E; Ceylan Y
    J Clin Ultrasound; 2011 Sep; 39(7):427-30. PubMed ID: 21688274
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.
    Zhang R; Wang J; Wang Q; Han Y; Liu X; Bottillo I; Lang Y; Shao L
    BMC Med Genet; 2018 Sep; 19(1):173. PubMed ID: 30236073
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autopsy case of right ventricular rhabdomyoma in tuberous sclerosis complex.
    Kondo T; Niida Y; Mizuguchi M; Nagasaki Y; Ueno Y; Nishimura A
    Leg Med (Tokyo); 2019 Feb; 36():37-40. PubMed ID: 30336374
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
    Papageorgiou G; Skouteris N; Valavanis C; Stanc GM; Souka E; Charalampakis N
    Rev Recent Clin Trials; 2023; 18(4):304-312. PubMed ID: 37877150
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.