BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 36709747)

  • 41. Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family.
    Gomez-Moyano E; Godoy-Diaz DJ; Ponce-Verdugo L; Sanz-Trelles A; Vera-Casaño A; Sierra-Salinas C
    J Eur Acad Dermatol Venereol; 2016 Jan; 30(1):157-9. PubMed ID: 25087691
    [No Abstract]   [Full Text] [Related]  

  • 42. Truncation of CGI-58 protein causes malformation of lamellar granules resulting in ichthyosis in Dorfman-Chanarin syndrome.
    Akiyama M; Sawamura D; Nomura Y; Sugawara M; Shimizu H
    J Invest Dermatol; 2003 Nov; 121(5):1029-34. PubMed ID: 14708602
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Barrier dysfunction and pathogenesis of neutral lipid storage disease with ichthyosis (Chanarin-Dorfman syndrome).
    Demerjian M; Crumrine DA; Milstone LM; Williams ML; Elias PM
    J Invest Dermatol; 2006 Sep; 126(9):2032-8. PubMed ID: 16741516
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
    Adant I; Declercq M; Bird M; Bauters M; Boeckx N; Devriendt K; Cassiman D; Witters P
    J Hepatol; 2020 May; 72(5):1030-1032. PubMed ID: 32107051
    [No Abstract]   [Full Text] [Related]  

  • 45. Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
    Yamaguchi T; Osumi T
    Biochim Biophys Acta; 2009 Jun; 1791(6):519-23. PubMed ID: 19061969
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
    Schleinitz N; Fischer J; Sanchez A; Veit V; Harle JR; Pelissier JF
    Arch Dermatol; 2005 Jun; 141(6):798-800. PubMed ID: 15967942
    [No Abstract]   [Full Text] [Related]  

  • 47. 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]  

  • 48. Dorfman-Chanarin syndrome.
    Chilkar S; Paikrao P; Shah I
    Indian J Gastroenterol; 2012 Jun; 31(3):147-8. PubMed ID: 22798180
    [No Abstract]   [Full Text] [Related]  

  • 49. Chanarin-Dorfman syndrome.
    Demir B; Sen A; Bilik L; Deveci U; Ozercan IH; Cicek D; Dogan Y
    Clin Exp Dermatol; 2017 Aug; 42(6):699-701. PubMed ID: 28636073
    [No Abstract]   [Full Text] [Related]  

  • 50. Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
    Safavi M; Vasei M; Motamed F
    Fetal Pediatr Pathol; 2022 Jun; 41(3):526-528. PubMed ID: 33966594
    [No Abstract]   [Full Text] [Related]  

  • 51. Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
    Uchida Y; Cho Y; Moradian S; Kim J; Nakajima K; Crumrine D; Park K; Ujihara M; Akiyama M; Shimizu H; Holleran WM; Sano S; Elias PM
    J Invest Dermatol; 2010 Oct; 130(10):2497-9. PubMed ID: 20520629
    [No Abstract]   [Full Text] [Related]  

  • 52. Education and imaging. Hepatology: Chanarin-Dorfman syndrome, a rare cause of fatty liver and steatohepatitis.
    Kazemi MH; Taghavi SA; Eshraghian A; Talebzadeh M; Hamidpour L
    J Gastroenterol Hepatol; 2015 May; 30(5):803. PubMed ID: 25865863
    [No Abstract]   [Full Text] [Related]  

  • 53. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
    Reilich P; Horvath R; Krause S; Schramm N; Turnbull DM; Trenell M; Hollingsworth KG; Gorman GS; Hans VH; Reimann J; MacMillan A; Turner L; Schollen A; Witte G; Czermin B; Holinski-Feder E; Walter MC; Schoser B; Lochmüller H
    J Neurol; 2011 Nov; 258(11):1987-97. PubMed ID: 21544567
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Critical roles for α/β hydrolase domain 5 (ABHD5)/comparative gene identification-58 (CGI-58) at the lipid droplet interface and beyond.
    Brown AL; Mark Brown J
    Biochim Biophys Acta Mol Cell Biol Lipids; 2017 Oct; 1862(10 Pt B):1233-1241. PubMed ID: 28827091
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Dorfman-Chanarin syndrome in a Turkish kindred: conductor diagnosis requires analysis of multiple eosinophils.
    Wollenberg A; Geiger E; Schaller M; Wolff H
    Acta Derm Venereol; 2000; 80(1):39-43. PubMed ID: 10721832
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.
    Cakmak E; Alagozlu H; Yonem O; Ataseven H; Citli S; Ozer H
    Clin Res Hepatol Gastroenterol; 2012 Apr; 36(2):e34-7. PubMed ID: 22245374
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome.
    Akyay A; Demir Şahin F; Şen A
    Turk J Haematol; 2020 Nov; 37(4):299-300. PubMed ID: 32517421
    [No Abstract]   [Full Text] [Related]  

  • 58. Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome.
    Niculescu L; Ruini C; Srour J; Salzer S; Schönbuchner I; von Braunmühl T; Ruzicka T; Hohenleutner U; Giehl KA; Fischer J; Wollenberg A
    Acta Derm Venereol; 2019 Mar; 99(3):345-346. PubMed ID: 30460372
    [No Abstract]   [Full Text] [Related]  

  • 59. Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.
    Tavian D; Durdu M; Angelini C; Torre E; Missaglia S
    Eur J Transl Myol; 2021 May; 31(2):. PubMed ID: 33985321
    [TBL] [Abstract][Full Text] [Related]  

  • 60. CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
    Caux F; Selma ZB; Laroche L; Prud'homme JF; Fischer J
    Am J Med Genet A; 2004 Aug; 129A(2):214. PubMed ID: 15316960
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.