BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

291 related articles for article (PubMed ID: 26353074)

  • 1. Chanarin Dorfman syndrome: a case report with novel nonsense mutation.
    Gupta N; Gothwal S; Satpathy AK; Missaglia S; Tavian D; Das P; Timila D; Kabra M
    Gene; 2016 Jan; 575(2 Pt 1):359-62. PubMed ID: 26353074
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.
    Durdu M; Missaglia S; Moro L; Tavian D
    BMC Med Genet; 2018 May; 19(1):88. PubMed ID: 29843625
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.
    Aggarwal S; Maras JS; Alam S; Khanna R; Gupta SK; Ahuja A
    Eur J Med Genet; 2012 Mar; 55(3):173-7. PubMed ID: 22373837
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.
    Srinivasaraghavan R; Krishnamurthy S; Chandar R; Cassandrini D; Mahadevan S; Bruno C; Santorelli FM
    Pediatr Dermatol; 2014; 31(5):612-4. PubMed ID: 23756328
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
    Nur BG; Gencpinar P; Yuzbasıoglu A; Emre SD; Mihci E
    Eur J Med Genet; 2015 Apr; 58(4):238-42. PubMed ID: 25682902
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Chanarin-Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene.
    Al-Hage J; Abbas O; Nemer G; Kurban M
    Clin Exp Dermatol; 2020 Mar; 45(2):257-259. PubMed ID: 31486100
    [No Abstract]   [Full Text] [Related]  

  • 7. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
    Takeichi T; Sugiura K; Tso S; Simpson MA; McGrath JA; Akiyama M
    J Dermatol Sci; 2016 Feb; 81(2):134-6. PubMed ID: 26547112
    [No Abstract]   [Full Text] [Related]  

  • 8. A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.
    Eskiocak AH; Missaglia S; Moro L; Durdu M; Tavian D
    Lipids Health Dis; 2019 Dec; 18(1):232. PubMed ID: 31883530
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Chanarin-Dorfman syndrome: clinical report and novel mutation in ABHD5 gene.
    Tamhankar PM; Iyer S; Sanghavi S; Khopkar U
    J Postgrad Med; 2014; 60(3):332-4. PubMed ID: 25121381
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A New Case of Chanarin-Dorfman Syndrome with a Novel Deletion in ABHD5 Gene.
    Nakhaei S; Heidary H; Rahimian A; Vafadar M; Rohani F; Bahoosh GR; Amirkashani D
    Iran Biomed J; 2018 Nov; 22(6):415-9. PubMed ID: 29475365
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome.
    Pujol RM; Gilaberte M; Toll A; Florensa L; Lloreta J; González-Enseñat MA; Fischer J; Azon A
    Br J Dermatol; 2005 Oct; 153(4):838-41. PubMed ID: 16181472
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Beneficial effect of acitretin in Chanarin-Dorfman syndrome.
    Israeli S; Pessach Y; Sarig O; Goldberg I; Sprecher E
    Clin Exp Dermatol; 2012 Jan; 37(1):31-3. PubMed ID: 21981352
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.
    Luu Y; Pithadia DJ; Teng J; Khuu P
    Pediatr Dermatol; 2023; 40(5):879-881. PubMed ID: 36709747
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.
    Cakir M; Bruno C; Cansu A; Cobanoglu U; Erduran E
    Acta Paediatr; 2010 Oct; 99(10):1592-4. PubMed ID: 20528790
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular mechanism of the ichthyosis pathology of Chanarin-Dorfman syndrome: Stimulation of PNPLA1-catalyzed ω-O-acylceramide production by ABHD5.
    Ohno Y; Nara A; Nakamichi S; Kihara A
    J Dermatol Sci; 2018 Dec; 92(3):245-253. PubMed ID: 30527376
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Chanarin-Dorfman syndrome: a novel mutation in a Turkish girl.
    Ünlüsoy-Aksu A; Sarı S; Eğritaş-Gürkan Ö; Dalgıç B
    Turk J Pediatr; 2015; 57(3):300-3. PubMed ID: 26701953
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6.
    Sugiura K; Suga Y; Akiyama M
    J Dermatol Sci; 2014 Sep; 75(3):199-201. PubMed ID: 24996587
    [No Abstract]   [Full Text] [Related]  

  • 18. Chanarin-Dorfman Syndrome: A comprehensive review.
    Cakmak E; Bagci G
    Liver Int; 2021 May; 41(5):905-914. PubMed ID: 33455044
    [TBL] [Abstract][Full Text] [Related]  

  • 19. From blood smear to lipid disorder: a case report.
    Elitzur S; Yacobovich J; Dgany O; Krasnov T; Rosenbach Y; Tamary H
    J Pediatr Hematol Oncol; 2013 Nov; 35(8):e329-31. PubMed ID: 23042024
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Maternal Isodisomy of Chromosome 3 Combined with a
    Kopp J; Has C; Hotz A; Grünert SC; Fischer J
    Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440338
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.