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Journal Abstract Search

215 related items for PubMed ID: 25659225

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 31; 21(1):20. PubMed ID: 32005174
    [Abstract] [Full Text] [Related]

  • 4. 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 31; 9(10):1192-6. PubMed ID: 20941942
    [Abstract] [Full Text] [Related]

  • 5. 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 31; 45(8):519-24. PubMed ID: 18413370
    [Abstract] [Full Text] [Related]

  • 6. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.
    Ben Khelifa H, Soyah N, Ben-Abdallah-Bouhjar I, Gritly R, Sanlaville D, Elghezal H, Saad A, Mougou-Zerelli S.
    Gene; 2013 Sep 25; 527(2):578-83. PubMed ID: 23791652
    [Abstract] [Full Text] [Related]

  • 7. 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 25; 57(10):692-698. PubMed ID: 32139392
    [Abstract] [Full Text] [Related]

  • 8. 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 25; 28(10):1156-1163. PubMed ID: 29672931
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  • 12. 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 25; 13(2):1135-40. PubMed ID: 26676689
    [Abstract] [Full Text] [Related]

  • 13. X-linked recessive ichthyosis.
    Hazan C, Orlow SJ, Schaffer JV.
    Dermatol Online J; 2005 Dec 30; 11(4):12. PubMed ID: 16403384
    [Abstract] [Full Text] [Related]

  • 14. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.
    Cañueto J, Ciria S, Hernández-Martín A, Unamuno P, González-Sarmiento R.
    J Eur Acad Dermatol Venereol; 2010 Oct 30; 24(10):1226-9. PubMed ID: 20236202
    [Abstract] [Full Text] [Related]

  • 15. Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.
    Winge MC, Hoppe T, Liedén A, Nordenskjöld M, Vahlquist A, Wahlgren CF, Törmä H, Bradley M, Berne B.
    J Dermatol Sci; 2011 Jul 30; 63(1):62-4. PubMed ID: 21530180
    [No Abstract] [Full Text] [Related]

  • 16. 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 30; 179(4):933-939. PubMed ID: 29901853
    [Abstract] [Full Text] [Related]

  • 17. Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.
    Cavenagh A, Chatterjee S, Davies W.
    PLoS One; 2019 Oct 30; 14(2):e0212330. PubMed ID: 30768640
    [Abstract] [Full Text] [Related]

  • 18. Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis.
    Song Y, Chen J, Yi Z, Dang X, Cheng D, Wu X, Tan Y.
    Mol Med Rep; 2013 Oct 30; 8(4):1183-7. PubMed ID: 23939749
    [Abstract] [Full Text] [Related]

  • 19. 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 10; 628():103-108. PubMed ID: 28710038
    [Abstract] [Full Text] [Related]

  • 20. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome.
    Toral-Lopez J, González-Huerta LM, Cuevas-Covarrubias SA.
    Br J Dermatol; 2008 Apr 10; 158(4):818-20. PubMed ID: 18205863
    [Abstract] [Full Text] [Related]

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