BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 21945601)

  • 1. Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.
    Ramesh R; Chen H; Kukula A; Wakeling EL; Rustin MH; McLean WH
    J Dermatol Sci; 2011 Dec; 64(3):159-62. PubMed ID: 21945601
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.
    Zhang Q; Si N; Liu Y; Zhang D; Wang R; Zhang Y; Wang S; Liu X; Deng X; Ma Y; Ge P; Zhao J; Zhang X
    Gene; 2017 Sep; 628():103-108. PubMed ID: 28710038
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.
    Wang X; Tan L; Shen N; Lu Y; Zhang Y
    BMC Med Genet; 2018 Jul; 19(1):120. PubMed ID: 30021537
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.
    Afzal S; Ramzan K; Ullah S; Wakil SM; Jamal A; Basit S; Waqar AB
    BMC Med Genet; 2020 Jan; 21(1):20. PubMed ID: 32005174
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.
    Liao H; Waters AJ; Goudie DR; Aitken DA; Graham G; Smith FJ; Lewis-Jones S; McLean WH
    J Invest Dermatol; 2007 Dec; 127(12):2795-8. PubMed ID: 17657246
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
    Hand JL; Runke CK; Hodge JC
    J Am Acad Dermatol; 2015 Apr; 72(4):617-27. PubMed ID: 25659225
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis.
    Abdel-Hamed MF; Hussein HA; Helmy NA; Elsaie ML
    J Drugs Dermatol; 2010 Oct; 9(10):1192-6. PubMed ID: 20941942
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.
    Hosomi N; Oiso N; Fukai K; Hanada K; Fujita H; Ishii M
    J Dermatol Sci; 2007 Jan; 45(1):31-6. PubMed ID: 17113756
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction.
    Nomura K; Nakano H; Umeki K; Harada K; Kon A; Tamai K; Sawamura D; Hashimoto I
    Acta Derm Venereol; 1995 Sep; 75(5):340-2. PubMed ID: 8615047
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.
    Brcic L; Underwood JF; Kendall KM; Caseras X; Kirov G; Davies W
    J Med Genet; 2020 Oct; 57(10):692-698. PubMed ID: 32139392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.
    Kent L; Emerton J; Bhadravathi V; Weisblatt E; Pasco G; Willatt LR; McMahon R; Yates JR
    J Med Genet; 2008 Aug; 45(8):519-24. PubMed ID: 18413370
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children.
    Brown SJ; Relton CL; Liao H; Zhao Y; Sandilands A; McLean WH; Cordell HJ; Reynolds NJ
    Br J Dermatol; 2009 Oct; 161(4):884-9. PubMed ID: 19681860
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis.
    Valdes-Flores M; Kofman-Alfaro SH; Jimenez-Vaca AL; Cuevas-Covarrubias SA
    Am J Med Genet; 2001 Aug; 102(2):146-8. PubMed ID: 11477606
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis].
    Liu A; Xiao SX; Tan SS; Jiao T; Liu Y; Li XL; Zhou SN
    Di Yi Jun Yi Da Xue Xue Bao; 2005 Aug; 25(8):1023-5. PubMed ID: 16109567
    [TBL] [Abstract][Full Text] [Related]  

  • 15. X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.
    Diociaiuti A; Angioni A; Pisaneschi E; Alesi V; Zambruno G; Novelli A; El Hachem M
    Exp Dermatol; 2019 Oct; 28(10):1156-1163. PubMed ID: 29672931
    [TBL] [Abstract][Full Text] [Related]  

  • 16. STS gene in a pedigree with X-linked ichthyosis.
    Liu A; Xiao S; Tan S; Lei X; Zhang J; Jiao T; Liu Y
    J Huazhong Univ Sci Technolog Med Sci; 2005; 25(4):468-9. PubMed ID: 16196306
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population.
    Xiong Z; Luo S; Xu X; Zhang L; Peng H; Li W; Xue J; Chen X; Hu Z; Xia K
    Clin Exp Dermatol; 2012 Mar; 37(2):177-80. PubMed ID: 22299762
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis.
    Winge MC; Bilcha KD; Liedén A; Shibeshi D; Sandilands A; Wahlgren CF; McLean WH; Nordenskjöld M; Bradley M
    Br J Dermatol; 2011 Nov; 165(5):1074-80. PubMed ID: 21692775
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.
    Cavenagh A; Chatterjee S; Davies W
    PLoS One; 2019; 14(2):e0212330. PubMed ID: 30768640
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
    Bai J; Qu Y; Cao Y; Li Y; Zhang W; Jin Y; Wang H; Song F
    Mol Med Rep; 2016 Feb; 13(2):1135-40. PubMed ID: 26676689
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.