BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

342 related articles for article (PubMed ID: 18603627)

  • 1. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
    Faghri S; Tamura D; Kraemer KH; Digiovanna JJ
    J Med Genet; 2008 Oct; 45(10):609-21. PubMed ID: 18603627
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 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. Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
    Chen E; Cleaver JE; Weber CA; Packman S; Barkovich AJ; Koch TK; Williams ML; Golabi M; Price VH
    J Invest Dermatol; 1994 Nov; 103(5 Suppl):154S-158S. PubMed ID: 7963680
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Trichothiodystrophy: from basic mechanisms to clinical implications.
    Stefanini M; Botta E; Lanzafame M; Orioli D
    DNA Repair (Amst); 2010 Jan; 9(1):2-10. PubMed ID: 19931493
    [TBL] [Abstract][Full Text] [Related]  

  • 7. New clinico-genetic classification of trichothiodystrophy.
    Morice-Picard F; Cario-André M; Rezvani H; Lacombe D; Sarasin A; Taïeb A
    Am J Med Genet A; 2009 Sep; 149A(9):2020-30. PubMed ID: 19681155
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.
    Pereira LB; Valente NYS; Rocha VB
    An Bras Dermatol; 2018; 93(1):135-137. PubMed ID: 29641717
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Syndromes associated with trichothiodystrophy.
    Tolmie JL; de Berker D; Dawber R; Galloway C; Gregory DW; Lehmann AR; McClure J; Pollitt RJ; Stephenson JB
    Clin Dysmorphol; 1994 Jan; 3(1):1-14. PubMed ID: 8205320
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Ocular manifestations of trichothiodystrophy.
    Brooks BP; Thompson AH; Clayton JA; Chan CC; Tamura D; Zein WM; Blain D; Hadsall C; Rowan J; Bowles KE; Khan SG; Ueda T; Boyle J; Oh KS; DiGiovanna JJ; Kraemer KH
    Ophthalmology; 2011 Dec; 118(12):2335-42. PubMed ID: 21959366
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
    Zhou X; Khan SG; Tamura D; Patronas NJ; Zein WM; Brooks BP; Kraemer KH; DiGiovanna JJ
    J Am Acad Dermatol; 2010 Aug; 63(2):323-8. PubMed ID: 20633800
    [No Abstract]   [Full Text] [Related]  

  • 13. Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis.
    McCuaig C; Marcoux D; Rasmussen JE; Werner MM; Gentner NE
    J Am Acad Dermatol; 1993 May; 28(5 Pt 2):820-6. PubMed ID: 8491872
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.
    Pode-Shakked B; Marek-Yagel D; Greenberger S; Pode-Shakked N; Pras E; Barzilai A; Yassin S; Sidi Y; Anikster Y
    Eur J Med Genet; 2015 Dec; 58(12):685-8. PubMed ID: 26518168
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Developmental Delays, Fragile Hair, and Ichthyosis Since Infancy.
    Dasgupta TS; Evans NS; Cusack CA
    Pediatr Dermatol; 2015; 32(6):865-6. PubMed ID: 26584695
    [No Abstract]   [Full Text] [Related]  

  • 16. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
    Hashimoto S; Egly JM
    Hum Mol Genet; 2009 Oct; 18(R2):R224-30. PubMed ID: 19808800
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Trichothiodystrophy with dysmyelination and central osteosclerosis.
    Harreld JH; Smith EC; Prose NS; Puri PK; Barboriak DP
    AJNR Am J Neuroradiol; 2010 Jan; 31(1):129-30. PubMed ID: 20075106
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structural and molecular hair abnormalities in trichothiodystrophy.
    Liang C; Morris A; Schlücker S; Imoto K; Price VH; Menefee E; Wincovitch SM; Levin IW; Tamura D; Strehle KR; Kraemer KH; DiGiovanna JJ
    J Invest Dermatol; 2006 Oct; 126(10):2210-6. PubMed ID: 16728971
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.