170 related articles for article (PubMed ID: 21910228)
1. Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex.
Niemi AK; Northrup H; Hudgins L; Bernstein JA
Am J Med Genet A; 2011 Oct; 155A(10):2534-7. PubMed ID: 21910228
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex.
Fox J; Ben-Shachar S; Uliel S; Svirsky R; Saitsu H; Matsumoto N; Fattal-Valevski A
Am J Med Genet A; 2017 Mar; 173(3):744-748. PubMed ID: 28127866
[TBL] [Abstract][Full Text] [Related]
4. Lymphedema in tuberous sclerosis complex.
Geffrey AL; Shinnick JE; Staley BA; Boronat S; Thiele EA
Am J Med Genet A; 2014 Jun; 164A(6):1438-42. PubMed ID: 24668795
[TBL] [Abstract][Full Text] [Related]
5. A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
Wang F; Xiong S; Wu L; Chopra M; Hu X; Wu B
BMC Med Genet; 2018 May; 19(1):90. PubMed ID: 29843636
[TBL] [Abstract][Full Text] [Related]
6. Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
Živčić-Ćosić S; Mayer K; Đorđević G; Nellist M; Hoogeveen-Westerveld M; Miletić D; Rački S; Klein HG; Trobonjača Z
Croat Med J; 2017 Dec; 58(6):416-423. PubMed ID: 29308833
[TBL] [Abstract][Full Text] [Related]
7. Tuberous sclerosis complex and DNA repair.
Habib SL
Adv Exp Med Biol; 2010; 685():84-94. PubMed ID: 20687497
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Rendtorff ND; Bjerregaard B; Frödin M; Kjaergaard S; Hove H; Skovby F; Brøndum-Nielsen K; Schwartz M;
Hum Mutat; 2005 Oct; 26(4):374-83. PubMed ID: 16114042
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas.
Henske EP; Neumann HP; Scheithauer BW; Herbst EW; Short MP; Kwiatkowski DJ
Genes Chromosomes Cancer; 1995 Aug; 13(4):295-8. PubMed ID: 7547639
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.
Tyburczy ME; Jozwiak S; Malinowska IA; Chekaluk Y; Pugh TJ; Wu CL; Nussbaum RL; Seepo S; Dzik T; Kotulska K; Kwiatkowski DJ
Hum Mol Genet; 2015 Apr; 24(7):1836-42. PubMed ID: 25432535
[TBL] [Abstract][Full Text] [Related]
20. Glioblastoma multiforme in a child with tuberous sclerosis complex.
Vignoli A; Lesma E; Alfano RM; Peron A; Scornavacca GF; Massimino M; Schiavello E; Ancona S; Cerati M; Bulfamante G; Gorio A; Canevini MP
Am J Med Genet A; 2015 Oct; 167A(10):2388-93. PubMed ID: 25946256
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
