These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 23909698)

  • 1. Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
    Boronat S; Shaaya EA; Doherty CM; Caruso P; Thiele EA
    Clin Genet; 2014 Aug; 86(2):149-54. PubMed ID: 23909698
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex.
    Boronat S; Caruso P; Thiele EA
    Dev Med Child Neurol; 2014 Dec; 56(12):1207-1211. PubMed ID: 24954233
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.
    Suspitsin EN; Yanus GA; Dorofeeva MY; Ledashcheva TA; Nikitina NV; Buyanova GV; Saifullina EV; Sokolenko AP; Imyanitov EN
    J Hum Genet; 2018 May; 63(5):597-604. PubMed ID: 29476190
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.
    Tian X; Glass JE; Kwiatkowski DJ; Towbin AJ; Li Y; Sund KL; Krueger DA; Franz DN; McCormack FX; Gupta N
    Ann Am Thorac Soc; 2021 May; 18(5):815-819. PubMed ID: 33171065
    [No Abstract]   [Full Text] [Related]  

  • 8. Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study.
    Ding Y; Wang J; Zhou S; Zhou Y; Zhang L; Yu L; Wang Y
    Front Genet; 2020; 11():204. PubMed ID: 32211034
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. [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]  

  • 12. Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. Online.
    Wang Q; Verhoef S; Tempelaars AM; Bakker PL; Vrtel R; Hesseling-Janssen AL; Nellist M; Oranje AP; Stroink H; Lindhout D; Halley DJ; van den Ouweland AM
    Hum Mutat; 1998; 11(4):331-2. PubMed ID: 10215407
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Arachnoid cysts in tuberous sclerosis complex.
    Boronat S; Caruso P; Auladell M; Van Eeghen A; Thiele EA
    Brain Dev; 2014 Oct; 36(9):801-6. PubMed ID: 24325802
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
    Kingswood JC; d'Augères GB; Belousova E; Ferreira JC; Carter T; Castellana R; Cottin V; Curatolo P; Dahlin M; de Vries PJ; Feucht M; Fladrowski C; Gislimberti G; Hertzberg C; Jozwiak S; Lawson JA; Macaya A; Nabbout R; O'Callaghan F; Benedik MP; Qin J; Marques R; Sander V; Sauter M; Takahashi Y; Touraine R; Youroukos S; Zonnenberg B; Jansen AC;
    Orphanet J Rare Dis; 2017 Jan; 12(1):2. PubMed ID: 28057044
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Diagnostic features of tuberous sclerosis complex: case report and literature review.
    Alshoabi SA; Hamid AM; Alhazmi FH; Qurashi AA; Abdulaal OM; Aloufi KM; Daqqaq TS
    Quant Imaging Med Surg; 2022 Jan; 12(1):846-861. PubMed ID: 34993123
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
    Bąbol-Pokora K; Bielska M; Bobeff K; Jatczak-Pawlik I; Borkowska J; Kotulska K; Jóźwiak S; Młynarski W; Trelińska J
    Eur J Med Genet; 2021 Oct; 64(10):104309. PubMed ID: 34403804
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.