BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 26762237)

  • 1. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
    Diociaiuti A; El Hachem M; Pisaneschi E; Giancristoforo S; Genovese S; Sirleto P; Boldrini R; Angioni A
    Orphanet J Rare Dis; 2016 Jan; 11():4. PubMed ID: 26762237
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Inherited ichthyosis: Non-syndromic forms.
    Takeichi T; Akiyama M
    J Dermatol; 2016 Mar; 43(3):242-51. PubMed ID: 26945532
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.
    Cheng R; Liang J; Li Y; Zhang J; Ni C; Yu H; Kong X; Li M; Yao Z
    Clin Genet; 2020 May; 97(5):770-778. PubMed ID: 31953843
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ichthyoses: differential diagnosis and molecular genetics.
    Oji V; Traupe H
    Eur J Dermatol; 2006; 16(4):349-59. PubMed ID: 16935789
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.
    Seidl-Philipp M; Schatz UA; Gasslitter I; Moosbrugger-Martinz V; Blunder S; Schossig AS; Zschocke J; Schmuth M; Gruber R
    J Dtsch Dermatol Ges; 2020 Jan; 18(1):17-25. PubMed ID: 31642606
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
    Vahidnezhad H; Youssefian L; Saeidian AH; Zeinali S; Mansouri P; Sotoudeh S; Barzegar M; Mohammadi-Asl J; Karamzadeh R; Abiri M; McCormick K; Fortina P; Uitto J
    J Invest Dermatol; 2017 Mar; 137(3):678-685. PubMed ID: 27884779
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Ichthyosis prematurity syndrome: clinical evaluation of 17 families with a rare disorder of lipid metabolism.
    Khnykin D; Rønnevig J; Johnsson M; Sitek JC; Blaas HG; Hausser I; Johansen FE; Jahnsen FL
    J Am Acad Dermatol; 2012 Apr; 66(4):606-16. PubMed ID: 21856041
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Hereditary ichthyosis: A diagnostic and therapeutic challenge].
    Vega Almendra N; Aranibar Duran L
    Rev Chil Pediatr; 2016; 87(3):213-23. PubMed ID: 26471314
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Managing syndromic congenital ichthyosis at a tertiary care institute-Genotype-phenotype correlations, and novel treatments.
    Dabas G; Mahajan R; De D; Handa S; Kumar R; Dayal D; Suthar R; Panigrahi I
    Dermatol Ther; 2020 Nov; 33(6):e13816. PubMed ID: 32533806
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nonsyndromic types of ichthyoses - an update.
    Traupe H; Fischer J; Oji V
    J Dtsch Dermatol Ges; 2014 Feb; 12(2):109-21. PubMed ID: 24119255
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.
    Vahlquist A; Fischer J; Törmä H
    Am J Clin Dermatol; 2018 Feb; 19(1):51-66. PubMed ID: 28815464
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Inherited ichthyoses/generalized Mendelian disorders of cornification.
    Schmuth M; Martinz V; Janecke AR; Fauth C; Schossig A; Zschocke J; Gruber R
    Eur J Hum Genet; 2013 Feb; 21(2):123-33. PubMed ID: 22739337
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetics of Inherited Ichthyoses and Related Diseases.
    Fischer J; Bourrat E
    Acta Derm Venereol; 2020 Mar; 100(7):adv00096. PubMed ID: 32147747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Personalized diagnosis and management of congenital cataract by next-generation sequencing.
    Gillespie RL; O'Sullivan J; Ashworth J; Bhaskar S; Williams S; Biswas S; Kehdi E; Ramsden SC; Clayton-Smith J; Black GC; Lloyd IC
    Ophthalmology; 2014 Nov; 121(11):2124-37.e1-2. PubMed ID: 25148791
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
    Ennouri M; Zimmer AD; Bahloul E; Chaabouni R; Marrakchi S; Turki H; Fakhfakh F; Bougacha-Elleuch N; Fischer J
    BMC Med Genomics; 2022 Jan; 15(1):4. PubMed ID: 34983512
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole-exome sequencing for diagnosis of hereditary ichthyosis.
    Sitek JC; Kulseth MA; Rypdal KB; Skodje T; Sheng Y; Retterstøl L
    J Eur Acad Dermatol Venereol; 2018 Jun; 32(6):1022-1027. PubMed ID: 29444371
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.
    Alef T; Torres S; Hausser I; Metze D; Türsen U; Lestringant GG; Hennies HC
    J Invest Dermatol; 2009 Apr; 129(4):862-9. PubMed ID: 18843291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ichthyosis.
    Gutiérrez-Cerrajero C; Sprecher E; Paller AS; Akiyama M; Mazereeuw-Hautier J; Hernández-Martín A; González-Sarmiento R
    Nat Rev Dis Primers; 2023 Jan; 9(1):2. PubMed ID: 36658199
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Epidermal barrier - molecular structure and disorders in selected ichthyoses].
    Śniegórska D; Kowalewski C; Wertheim-Tysarowska K
    Postepy Biochem; 2016; 62(1):36-45. PubMed ID: 28132443
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis.
    Laiho E; Niemi KM; Ignatius J; Kere J; Palotie A; Saarialho-Kere U
    Eur J Hum Genet; 1999 Sep; 7(6):625-32. PubMed ID: 10482949
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.