228 related articles for article (PubMed ID: 35918040)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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]
7. 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]
8. 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]
9.
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]
10. 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]
11. First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.
Reyna-Fabián ME; Hernández-Martínez NL; Alcántara-Ortigoza MA; Ayala-Sumuano JT; Enríquez-Flores S; Velázquez-Aragón JA; Varela-Echavarría A; Todd-Quiñones CG; González-Del Angel A
Sci Rep; 2020 Apr; 10(1):6589. PubMed ID: 32313033
[TBL] [Abstract][Full Text] [Related]
12. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
Klonowska K; Thiele EA; Grevelink JM; Thorner AR; Kwiatkowski DJ
J Med Genet; 2022 Sep; 59(9):920-923. PubMed ID: 34635572
[TBL] [Abstract][Full Text] [Related]
13. TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS; Gibson WT; Sparagana SP; Nellist M; Stumpel CT; Hietala M; Friedman E; Pearson DA; Creighton SP; Wagemans A; Segel R; Ben-Shalom E; Au KS; Northrup H
Am J Med Genet A; 2017 Mar; 173(3):771-775. PubMed ID: 28211972
[TBL] [Abstract][Full Text] [Related]
14. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.
Jones AC; Daniells CE; Snell RG; Tachataki M; Idziaszczyk SA; Krawczak M; Sampson JR; Cheadle JP
Hum Mol Genet; 1997 Nov; 6(12):2155-61. PubMed ID: 9328481
[TBL] [Abstract][Full Text] [Related]
15. A novel de novo mutation in the TSC2 gene in a Chinese patient with tuberous sclerosis complex.
Li W; Zhou P; Zhao C; Zhang Y
J Neurogenet; 2016; 30(3-4):285-287. PubMed ID: 27776463
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.
Li X; Hu T; Liu J; Fang B; Geng X; Xiong Q; Zhang L; Jin Y; Liu X; Li L; Wang Y; Li R; Bai X; Yang H; Dai Y
J Genet Genomics; 2020 Dec; 47(12):735-742. PubMed ID: 33612456
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.
Peron A; Vignoli A; Briola F; Morenghi E; Tansini L; Alfano RM; Bulfamante G; Terraneo S; Ghelma F; Banderali G; Viskochil DH; Carey JC; Canevini MP;
Eur J Med Genet; 2018 Jul; 61(7):403-410. PubMed ID: 29432982
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
