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179 related items for PubMed ID: 12644929

  • 1. End-stage renal failure in a child with X-linked ichthyosis.
    Matsukura H, Fuchizawa T, Ohtsuki A, Higashiyama H, Higuchi O, Higuchi A, Miyawaki T.
    Pediatr Nephrol; 2003 Mar; 18(3):297-300. PubMed ID: 12644929
    [Abstract] [Full Text] [Related]

  • 2. Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.
    Krishnamurthy S, Kapoor S, Yadav S.
    Indian Pediatr; 2007 Apr; 44(4):301-3. PubMed ID: 17468528
    [Abstract] [Full Text] [Related]

  • 3. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature.
    Mishra K, Batra VV, Basu S, Rath B, Saxena R.
    Eur J Pediatr; 2012 May; 171(5):847-50. PubMed ID: 22419362
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 10; 8(4):1183-7. PubMed ID: 23939749
    [Abstract] [Full Text] [Related]

  • 6. Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.
    Valdes-Flores M, Kofman-Alfaro SH, Vaca AL, Cuevas-Covarrubias SA.
    J Invest Dermatol; 2001 Mar 10; 116(3):456-8. PubMed ID: 11231321
    [Abstract] [Full Text] [Related]

  • 7. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
    Hand JL, Runke CK, Hodge JC.
    J Am Acad Dermatol; 2015 Apr 10; 72(4):617-27. PubMed ID: 25659225
    [Abstract] [Full Text] [Related]

  • 8. 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 10; 9(10):1192-6. PubMed ID: 20941942
    [Abstract] [Full Text] [Related]

  • 9. 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 10; 13(2):1135-40. PubMed ID: 26676689
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 179(4):933-939. PubMed ID: 29901853
    [Abstract] [Full Text] [Related]

  • 11. [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 10; 25(8):1023-5. PubMed ID: 16109567
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 45(8):519-24. PubMed ID: 18413370
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 75(5):340-2. PubMed ID: 8615047
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 64(3):159-62. PubMed ID: 21945601
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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]

  • 17. Identification of a novel partial deletion of STS associated with pre-Descemet corneal dystrophy and X-linked ichthyosis.
    Williams D, Onyia O, Chung DD, Kirakosyan A, Hovakimyan A, Payne C, Moshirfar M, Aldave AJ.
    Mol Vis; 2023 Oct 25; 29():25-30. PubMed ID: 37287641
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