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 *

179 related articles for article (PubMed ID: 31118107)

  • 1. Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene.
    Louhichi N; Bahloul E; Marrakchi S; Othman HB; Triki C; Aloulou K; Trabelsi L; Mahfouth N; Ayadi-Mnif Z; Keskes L; Fakhfakh F; Turki H
    Orphanet J Rare Dis; 2019 May; 14(1):112. PubMed ID: 31118107
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
    Redaelli C; Coleman RA; Moro L; Dacou-Voutetakis C; Elsayed SM; Prati D; Colli A; Mela D; Colombo R; Tavian D
    Orphanet J Rare Dis; 2010 Dec; 5():33. PubMed ID: 21122093
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family.
    Samuelov L; Fuchs-Telem D; Sarig O; Sprecher E
    Br J Dermatol; 2011 Jun; 164(6):1390-2. PubMed ID: 21332462
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Cerebral lipid accumulation in Chanarin-Dorfman Syndrome.
    Huigen MC; van der Graaf M; Morava E; Dassel AC; van Steensel MA; Seyger MM; Wevers RA; Willemsen MA
    Mol Genet Metab; 2015 Jan; 114(1):51-4. PubMed ID: 25468645
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. ABHD5/CGI-58, the Chanarin-Dorfman Syndrome Protein, Mobilises Lipid Stores for Hepatitis C Virus Production.
    Vieyres G; Welsch K; Gerold G; Gentzsch J; Kahl S; Vondran FW; Kaderali L; Pietschmann T
    PLoS Pathog; 2016 Apr; 12(4):e1005568. PubMed ID: 27124600
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.
    Missaglia S; Valadares ER; Moro L; Faguntes ED; Quintão Roque R; Giardina B; Tavian D
    BMC Med Genet; 2014 Mar; 15():32. PubMed ID: 24628803
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Chanarin-Dorfman Syndrome diagnosed at the stage of liver transplantation: A rare lipid storage disease.
    Durmazer E; Demir M; Onay H; Gunsar F
    J Clin Lipidol; 2024; 18(1):e125-e128. PubMed ID: 37968200
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.