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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

245 related items for PubMed ID: 20941942

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies.
    Hou JW.
    Chang Gung Med J; 2005 Sep; 28(9):643-50. PubMed ID: 16323556
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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; 116(3):456-8. PubMed ID: 11231321
    [Abstract] [Full Text] [Related]

  • 11. X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.
    Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G.
    Am J Med Genet; 1995 Nov 06; 59(2):143-8. PubMed ID: 8588575
    [Abstract] [Full Text] [Related]

  • 12. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene.
    Gonzalez-Huerta L, Mendiola-Jimenez J, Del Moral-Stevenel M, Rivera-Vega M, Cuevas-Covarrubias S.
    Int J Dermatol; 2009 Feb 06; 48(2):142-4. PubMed ID: 19200188
    [Abstract] [Full Text] [Related]

  • 13. Prenatal in situ hybridization test for deleted steroid sulfatase gene.
    Lebo RV, Lynch ED, Golbus MS, Flandermeyer RR, Yen PH, Shapiro LJ.
    Am J Med Genet; 1993 Jul 01; 46(6):652-8. PubMed ID: 8362907
    [Abstract] [Full Text] [Related]

  • 14. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.
    Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S.
    Hum Mutat; 2000 Mar 01; 15(3):296. PubMed ID: 10679952
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 64(3):159-62. PubMed ID: 21945601
    [Abstract] [Full Text] [Related]

  • 16. 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 01; 34(5):e23201. PubMed ID: 31944387
    [Abstract] [Full Text] [Related]

  • 17. 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 01; 158(4):818-20. PubMed ID: 18205863
    [Abstract] [Full Text] [Related]

  • 18. Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
    Kashork CD, Sutton VR, Fonda Allen JS, Schmidt DE, Likhite ML, Potocki L, O'Brien WE, Shaffer LG.
    Prenat Diagn; 2002 Nov 01; 22(11):1028-32. PubMed ID: 12424769
    [Abstract] [Full Text] [Related]

  • 19. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
    Hand JL, Runke CK, Hodge JC.
    J Am Acad Dermatol; 2015 Apr 01; 72(4):617-27. PubMed ID: 25659225
    [Abstract] [Full Text] [Related]

  • 20. Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.
    Krishnamurthy S, Kapoor S, Yadav S.
    Indian Pediatr; 2007 Apr 01; 44(4):301-3. PubMed ID: 17468528
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 13.