BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 34964971)

  • 1. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].
    Liu W; Li F; He Z; Ai R
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):68-71. PubMed ID: 34964971
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex].
    Liu L; Yu C; Yang H; Lu Q; Ouyang F; Liu T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):877-879. PubMed ID: 34487535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
    Wang S; Sun H; Wang J; Gu X; Han L; Wu Y; Yan H; Han L; Zhang H; He Y
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1802. PubMed ID: 34480426
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical characteristics and genetic analysis of a Chinese pedigree affected with tuberous sclerosis complex].
    Chen L; Li G; Zhang C; Jiao M; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov; 39(11):1238-1242. PubMed ID: 36317210
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants.
    Demir S; Yalçıntepe S; Atlı E; Yalçın Y; İkbal Atlı E; Eker D; Karal Y; Gürkan H
    Balkan Med J; 2021 Nov; 38(6):341-347. PubMed ID: 34860161
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    He J; Zhou W; Shi J; Lin J; Zhang B; Sun Z
    Genet Test Mol Biomarkers; 2020 Jan; 24(1):1-5. PubMed ID: 31855466
    [No Abstract]   [Full Text] [Related]  

  • 9. TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
    Ogórek B; Hamieh L; Hulshof HM; Lasseter K; Klonowska K; Kuijf H; Moavero R; Hertzberg C; Weschke B; Riney K; Feucht M; Scholl T; Krsek P; Nabbout R; Jansen AC; Benova B; Aronica E; Lagae L; Curatolo P; Borkowska J; Sadowski K; Domańska-Pakieła D; Janson S; Kozlowski P; Urbanska M; Jaworski J; Jozwiak S; Jansen FE; Kotulska K; ; Kwiatkowski DJ
    Genet Med; 2020 Sep; 22(9):1489-1497. PubMed ID: 32461669
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex.
    Yang MH; Wang ZK; Huang Y; Lv SQ; Zhang CQ; Zhu YY; Yang QW; Liu SY
    Childs Nerv Syst; 2021 Jan; 37(1):253-257. PubMed ID: 32533299
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene].
    Niu Y; Huang S; Xu P; Li J; Gao M; Chen X; Chu H; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):553-556. PubMed ID: 34096024
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
    Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
    Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex.
    Meng Y; Yu C; Chen M; Yu X; Sun M; Yan H; Zhao W; Yu S
    J Hum Genet; 2021 Mar; 66(3):227-236. PubMed ID: 32917966
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole Exome Sequencing in a Series of Patients with a Clinical Diagnosis of Tuberous Sclerosis Not Confirmed by Targeted
    Kovesdi E; Ripszam R; Postyeni E; Horvath EB; Kelemen A; Fabos B; Farkas V; Hadzsiev K; Sumegi K; Magyari L; Moreno PG; Bauer P; Melegh B
    Genes (Basel); 2021 Sep; 12(9):. PubMed ID: 34573383
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
    Ye Z; Lin S; Zhao X; Bennett MF; Brown NJ; Wallis M; Gao X; Sun L; Wu J; Vedururu R; Witkowski T; Gardiner F; Stutterd C; Duan J; Mullen SA; McGillivray G; Bodek S; Valente G; Reagan M; Yao Y; Li L; Chen L; Boys A; Adikari TN; Cao D; Hu Z; Beshay V; Zhang VW; Berkovic SF; Scheffer IE; Liao J; Hildebrand MS
    Hum Mutat; 2022 Dec; 43(12):1956-1969. PubMed ID: 36030538
    [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. Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review.
    Zhou Y; Wang X; Wang J; Ding Y; Wang Y; Li H; Zhao R; Wu B
    Childs Nerv Syst; 2021 Dec; 37(12):3945-3949. PubMed ID: 33517515
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [Genetic analysis of a mosaic case with low proportion mutation of
    Jin X; Jin P; Yan K; Qian Y; Dong M
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 49(5):586-590. PubMed ID: 33210484
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
    Giannikou K; Lasseter KD; Grevelink JM; Tyburczy ME; Dies KA; Zhu Z; Hamieh L; Wollison BM; Thorner AR; Ruoss SJ; Thiele EA; Sahin M; Kwiatkowski DJ
    Genet Med; 2019 Nov; 21(11):2639-2643. PubMed ID: 31160751
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.