BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

372 related articles for article (PubMed ID: 24917535)

  • 1. Severity of manifestations in tuberous sclerosis complex in relation to genotype.
    Kothare SV; Singh K; Chalifoux JR; Staley BA; Weiner HL; Menzer K; Devinsky O
    Epilepsia; 2014 Jul; 55(7):1025-9. PubMed ID: 24917535
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Genotype/phenotype in tuberous sclerosis complex: associations with clinical and radiologic manifestations.
    Kothare SV; Singh K; Hochman T; Chalifoux JR; Staley BA; Weiner HL; Menzer K; Devinsky O
    Epilepsia; 2014 Jul; 55(7):1020-4. PubMed ID: 24754401
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex.
    Chu-Shore CJ; Major P; Montenegro M; Thiele E
    Neurology; 2009 Mar; 72(13):1165-9. PubMed ID: 19332694
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex.
    Sancak O; Nellist M; Goedbloed M; Elfferich P; Wouters C; Maat-Kievit A; Zonnenberg B; Verhoef S; Halley D; van den Ouweland A
    Eur J Hum Genet; 2005 Jun; 13(6):731-41. PubMed ID: 15798777
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Overlapping neurologic and cognitive phenotypes in patients with TSC1 or TSC2 mutations.
    Jansen FE; Braams O; Vincken KL; Algra A; Anbeek P; Jennekens-Schinkel A; Halley D; Zonnenberg BA; van den Ouweland A; van Huffelen AC; van Nieuwenhuizen O; Nellist M
    Neurology; 2008 Mar; 70(12):908-15. PubMed ID: 18032745
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.
    Hung CC; Su YN; Chien SC; Liou HH; Chen CC; Chen PC; Hsieh CJ; Chen CP; Lee WT; Lin WL; Lee CN
    BMC Med Genet; 2006 Sep; 7():72. PubMed ID: 16981987
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study.
    Gupta A; de Bruyn G; Tousseyn S; Krishnan B; Lagae L; Agarwal N;
    Pediatr Neurol; 2020 May; 106():10-16. PubMed ID: 32139167
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland.
    Devlin LA; Shepherd CH; Crawford H; Morrison PJ
    Dev Med Child Neurol; 2006 Jun; 48(6):495-9. PubMed ID: 16700943
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms.
    van Eeghen AM; Nellist M; van Eeghen EE; Thiele EA
    Epilepsy Res; 2013 Jan; 103(1):83-7. PubMed ID: 22867869
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An Australian tuberous sclerosis cohort: are surveillance guidelines being met?
    Chopra M; Lawson JA; Wilson M; Kennedy SE; Taylor P; Buckley MF; Wargon O; Parasivam G; Camphausen C; Yates D; Mowat D
    J Paediatr Child Health; 2011 Oct; 47(10):711-6. PubMed ID: 21449900
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG.
    Muzykewicz DA; Costello DJ; Halpern EF; Thiele EA
    Epilepsia; 2009 Feb; 50(2):290-6. PubMed ID: 18801034
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.
    Choi JE; Chae JH; Hwang YS; Kim KJ
    Brain Dev; 2006 Aug; 28(7):440-6. PubMed ID: 16554133
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epileptic spasms in tuberous sclerosis complex.
    Hsieh DT; Jennesson MM; Thiele EA
    Epilepsy Res; 2013 Sep; 106(1-2):200-10. PubMed ID: 23796861
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex.
    Yu T; He Y; Li N; Zhou Y; Wang Z; Fu Q; Wang J; Wang J
    Clin Neurol Neurosurg; 2017 Mar; 154():104-108. PubMed ID: 28178598
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Genotype and brain pathology phenotype in children with tuberous sclerosis complex.
    Overwater IE; Swenker R; van der Ende EL; Hanemaayer KB; Hoogeveen-Westerveld M; van Eeghen AM; Lequin MH; van den Ouweland AM; Moll HA; Nellist M; de Wit MY
    Eur J Hum Genet; 2016 Dec; 24(12):1688-1695. PubMed ID: 27406250
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.