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 *

174 related articles for article (PubMed ID: 25468645)

  • 41. 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]  

  • 42. 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]  

  • 43. Dorfman-Chanarin syndrome in adult patient of southern Tunisia.
    Snoussi M; Damak C; Frikha F; Megdich F; Kallel C; Bahloul Z
    Presse Med; 2018 Jan; 47(1):92-94. PubMed ID: 29275970
    [No Abstract]   [Full Text] [Related]  

  • 44. Chanarin-Dorfman syndrome: clinical features of a rare lipid metabolism disorder.
    Selimoglu MA; Esrefoglu M; Gul M; Gungor S; Yildirim C; Seyhan M
    Pediatr Dermatol; 2009; 26(1):40-3. PubMed ID: 19250403
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 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]  

  • 47. 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]  

  • 48. Two cases of Chanarin-Dorfman syndrome with novel and recurrent mutations in the ABHD5 gene.
    Jiang X; Zhong W; Yu B; Lin Z; Wang H
    Int J Dermatol; 2021 Jul; 60(7):904-906. PubMed ID: 33569812
    [No Abstract]   [Full Text] [Related]  

  • 49. 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]  

  • 50. 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]  

  • 51. Dorfman-Chanarin syndrome: morphologic studies and presentation of new cases.
    Srebrnik A; Brenner S; Ilie B; Messer G
    Am J Dermatopathol; 1998 Feb; 20(1):79-85. PubMed ID: 9504676
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 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. Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report.
    Aksu G; Kalkan Ucar S; Bulut Y; Aydinok Y; Sen S; Anal O; Simsek Gosen D; Darcan S; Coker M; Kutukculer N
    Pediatr Dermatol; 2008; 25(3):326-31. PubMed ID: 18577036
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Inherited ichthyosis: Syndromic forms.
    Yoneda K
    J Dermatol; 2016 Mar; 43(3):252-63. PubMed ID: 26945533
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Rickets with Dorfman-Chanarin syndrome.
    Taskin E; Akarsu S; Aygun AD; Ozlu F; Kilic M
    Acta Haematol; 2007; 117(1):16-9. PubMed ID: 17095855
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Dorfman-Chanarin syndrome: a case with prevalent hepatic involvement.
    Mela D; Artom A; Goretti R; Varagona G; Riolfo M; Ardoino S; Sanguineti G; Vitali A; Ricciardi S
    J Hepatol; 1996 Nov; 25(5):769-71. PubMed ID: 8938558
    [TBL] [Abstract][Full Text] [Related]  

  • 58. The anesthetic management of a patient with Dorfman-Chanarin syndrome.
    Beştaş A; Bolat E; Bayar MK; Erhan OL
    Middle East J Anaesthesiol; 2011 Oct; 21(3):437-40. PubMed ID: 22428507
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome].
    Barraud C; Cano A; Boulay C; Milh M; Bollini G; Chabrol B
    Arch Pediatr; 2015 Apr; 22(4):414-7. PubMed ID: 25753274
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5.
    Badeloe S; van Geel M; Nagtzaam I; Rubio-Gozalbo ME; Oei RL; Steijlen PM; van Steensel MA
    Br J Dermatol; 2008 Jun; 158(6):1378-80. PubMed ID: 18410411
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.