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 *

131 related articles for article (PubMed ID: 39086014)

  • 1. Revisiting X-linked congenital ichthyosis.
    Zhou B; Liang C; Li P; Xiao H
    Int J Dermatol; 2024 Jul; ():. PubMed ID: 39086014
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Stratum corneum lipids in disorders of cornification. Steroid sulfatase and cholesterol sulfate in normal desquamation and the pathogenesis of recessive X-linked ichthyosis.
    Elias PM; Williams ML; Maloney ME; Bonifas JA; Brown BE; Grayson S; Epstein EH
    J Clin Invest; 1984 Oct; 74(4):1414-21. PubMed ID: 6592175
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis.
    Tang X; Wang Z; Yang S; Chen M; Zhang Y; Zhang F; Tan J; Yin T; Wang L
    Front Genet; 2022; 13():934952. PubMed ID: 36118896
    [No Abstract]   [Full Text] [Related]  

  • 5. X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.
    Zhang M; Huang H; Lin N; He S; An G; Wang Y; Chen M; Chen L; Lin Y; Xu L
    J Clin Lab Anal; 2020 May; 34(5):e23201. PubMed ID: 31944387
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series.
    Rodrigo-Nicolás B; Bueno-Martínez E; Martín-Santiago A; Cañueto J; Vicente A; Torrelo A; Noguera-Morel L; Duat-Rodríguez A; Jorge-Finnigan C; Palacios-Álvarez I; García-Hernández JL; Sebaratnam DF; González-Sarmiento R; Hernández-Martín A
    Br J Dermatol; 2018 Oct; 179(4):933-939. PubMed ID: 29901853
    [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. 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]  

  • 9. A model of corrective gene transfer in X-linked ichthyosis.
    Freiberg RA; Choate KA; Deng H; Alperin ES; Shapiro LJ; Khavari PA
    Hum Mol Genet; 1997 Jun; 6(6):927-33. PubMed ID: 9175741
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
    Lee NR; Yoon NY; Jung M; Kim JY; Seo SJ; Wang HY; Lee H; Sohn YB; Choi EH
    J Korean Med Sci; 2016 Aug; 31(8):1307-18. PubMed ID: 27478344
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis.
    Watanabe T; Fujimori K; Kato K; Nomura Y; Onogi S; Sato A
    J Obstet Gynaecol Res; 2003 Dec; 29(6):427-30. PubMed ID: 14641695
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.
    Williams ML; Elias PM
    J Clin Invest; 1981 Dec; 68(6):1404-10. PubMed ID: 6947980
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene.
    Chouk H; Saad S; Dimassi S; Fetoui NG; Bennour A; Gammoudi R; Elmabrouk H; Saad A; Denguezli M; H'mida D
    BMC Med Genomics; 2022 Jul; 15(1):165. PubMed ID: 35883075
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unraveling the molecular mechanisms of cell migration impairment and apoptosis associated with steroid sulfatase deficiency: Implications for X-linked ichthyosis.
    Kwon TU; Kwon YJ; Baek HS; Park H; Lee H; Chun YJ
    Biochim Biophys Acta Mol Basis Dis; 2024 Mar; 1870(3):167004. PubMed ID: 38182070
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.
    Ballabio A; Sebastio G; Carrozzo R; Parenti G; Piccirillo A; Persico MG; Andria G
    Hum Genet; 1987 Dec; 77(4):338-41. PubMed ID: 3480263
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
    Huang JW; Tang N; Li WG; Li ZT; Luo SQ; Li JW; Huang J; Yan TZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2016 Nov; 18(11):1136-1140. PubMed ID: 27817780
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.