BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 30580289)

  • 1. PIBIDS syndrome in two Brazilian siblings.
    Abagge KT; Haupenthal F; Felber GY; Raskin S
    BMJ Case Rep; 2018 Dec; 11(1):. PubMed ID: 30580289
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Trichothiodystrophy: progresssive manifestations].
    Foulc P; Jumbou O; David A; Sarasin A; Stalder JF
    Ann Dermatol Venereol; 1999 Oct; 126(10):703-7. PubMed ID: 10604009
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
    Kuschal C; Botta E; Orioli D; Digiovanna JJ; Seneca S; Keymolen K; Tamura D; Heller E; Khan SG; Caligiuri G; Lanzafame M; Nardo T; Ricotti R; Peverali FA; Stephens R; Zhao Y; Lehmann AR; Baranello L; Levens D; Kraemer KH; Stefanini M
    Am J Hum Genet; 2016 Apr; 98(4):627-42. PubMed ID: 26996949
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report.
    Michalska E; Koppolu A; Dobrzańska A; Płoski R; Gruszfeld D
    Eur J Med Genet; 2019 Sep; 62(9):103557. PubMed ID: 30359777
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
    Singh A; Compe E; Le May N; Egly JM
    Am J Hum Genet; 2015 Feb; 96(2):194-207. PubMed ID: 25620205
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel ERCC2 mutation in two siblings with trichothiodystrophy.
    Lund EB; Stein SL
    Pediatr Dermatol; 2019 Sep; 36(5):668-671. PubMed ID: 31282071
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
    Weeda G; Eveno E; Donker I; Vermeulen W; Chevallier-Lagente O; Taïeb A; Stary A; Hoeijmakers JH; Mezzina M; Sarasin A
    Am J Hum Genet; 1997 Feb; 60(2):320-9. PubMed ID: 9012405
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
    Lambert WC; Gagna CE; Lambert MW
    Adv Exp Med Biol; 2010; 685():106-10. PubMed ID: 20687499
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Short stature with congenital ichthyosis.
    Lakhani SJ; Lakhani OJ
    BMJ Case Rep; 2015 Dec; 2015():. PubMed ID: 26661284
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A rare presentation of squamous cell carcinoma in a patient with PIBIDS-type trichothiodystrophy.
    Charles CA; Connelly EA; Aber CG; Herman AR; Schachner LA
    Pediatr Dermatol; 2008; 25(2):264-7. PubMed ID: 18429798
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Trichothiodystrophy type 4 in an Indian family.
    Pande S; Shukla A; Girisha KM
    Am J Med Genet A; 2020 Oct; 182(10):2226-2229. PubMed ID: 33043633
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Trichothiodystrophy, a transcription syndrome.
    Bergmann E; Egly JM
    Trends Genet; 2001 May; 17(5):279-86. PubMed ID: 11335038
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
    Theil AF; Botta E; Raams A; Smith DEC; Mendes MI; Caligiuri G; Giachetti S; Bione S; Carriero R; Liberi G; Zardoni L; Swagemakers SMA; Salomons GS; Sarasin A; Lehmann A; van der Spek PJ; Ogi T; Hoeijmakers JHJ; Vermeulen W; Orioli D
    Am J Hum Genet; 2019 Aug; 105(2):434-440. PubMed ID: 31374204
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The First Reported Case of Trichothiodystrophy in Hungary: A Young Male Patient with Mutations in the ERCC2 Gene.
    Veres K; Nagy N; Háromszéki B; Solymosi Á; Vass V; Széll M; Szalai ZZ
    Acta Dermatovenerol Croat; 2018 Jun; 26(2):169-172. PubMed ID: 29989875
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Japanese trichothiodystrophy patient with XPD mutations.
    Usuda T; Saijo M; Tanaka K; Sato N; Uchiyama M; Kobayashi T
    J Hum Genet; 2011 Jan; 56(1):77-9. PubMed ID: 20944642
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
    Corbett MA; Dudding-Byth T; Crock PA; Botta E; Christie LM; Nardo T; Caligiuri G; Hobson L; Boyle J; Mansour A; Friend KL; Crawford J; Jackson G; Vandeleur L; Hackett A; Tarpey P; Stratton MR; Turner G; Gécz J; Field M
    J Med Genet; 2015 Apr; 52(4):269-74. PubMed ID: 25612912
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
    Itin PH; Sarasin A; Pittelkow MR
    J Am Acad Dermatol; 2001 Jun; 44(6):891-920; quiz 921-4. PubMed ID: 11369901
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
    Theil AF; Mandemaker IK; van den Akker E; Swagemakers SMA; Raams A; Wüst T; Marteijn JA; Giltay JC; Colombijn RM; Moog U; Kotzaeridou U; Ghazvini M; von Lindern M; Hoeijmakers JHJ; Jaspers NGJ; van der Spek PJ; Vermeulen W
    Hum Mol Genet; 2017 Dec; 26(23):4689-4698. PubMed ID: 28973399
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.
    Chen JD; Liao WD; Wen LY; Zhong RH
    BMC Pediatr; 2021 Mar; 21(1):123. PubMed ID: 33711971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype.
    Leemans G; De Raeve L; Keymolen K
    J Eur Acad Dermatol Venereol; 2020 Apr; 34(4):876-879. PubMed ID: 31803976
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.