BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 33853651)

  • 1. A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant.
    Mandato C; Siano MA; Nazzaro L; Gelzo M; Francalanci P; Rizzo F; D'Agostino Y; Morleo M; Brillante S; Weisz A; Franco B; Vajro P
    Orphanet J Rare Dis; 2021 Apr; 16(1):179. PubMed ID: 33853651
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic loss-of-function
    Luan W; Hao CZ; Li JQ; Wei Q; Gong JY; Qiu YL; Lu Y; Shen CH; Xia Q; Xie XB; Zhang MH; Abuduxikuer K; Li ZD; Wang L; Xing QH; Knisely AS; Wang JS
    J Med Genet; 2021 Aug; 58(8):514-525. PubMed ID: 32737136
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Progressive familial intrahepatic cholestasis and hereditary anomalies lf hepatocellular metabolism of bile acids].
    Jacquemin E
    Arch Pediatr; 1998 Jan; 5(1):45-53. PubMed ID: 10223112
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
    Zheng Y; Guo H; Chen L; Cheng W; Yan K; Zhang Z; Li M; Jin Y; Hu G; Wang C; Zhou C; Zhou W; Jia Z; Zheng B; Liu Z
    Hepatol Int; 2024 Apr; 18(2):661-672. PubMed ID: 37314652
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Neonatal sclerosing cholangitis caused by DCDC2 variations in two siblings and literature review].
    Li JQ; Lu Y; Qiu YL; Wang JS
    Zhonghua Er Ke Za Zhi; 2018 Aug; 56(8):623-627. PubMed ID: 30078246
    [No Abstract]   [Full Text] [Related]  

  • 6. Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
    Pinon M; Carboni M; Colavito D; Cisarò F; Peruzzi L; Pizzol A; Calosso G; David E; Calvo PL
    Ital J Pediatr; 2019 Feb; 45(1):27. PubMed ID: 30791938
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Progressive familial intrahepatic cholestasis.
    Jacquemin E
    Clin Res Hepatol Gastroenterol; 2012 Sep; 36 Suppl 1():S26-35. PubMed ID: 23141890
    [TBL] [Abstract][Full Text] [Related]  

  • 8. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
    Matarazzo L; Bianco AM; Athanasakis E; Serveres M; Francalanci P; Cenacchi G; Maggiore G; D'Adamo AP
    J Pediatr Gastroenterol Nutr; 2022 May; 74(5):e115-e121. PubMed ID: 35129155
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis.
    Pepe A; Colucci A; Carucci M; Nazzaro L; Bucci C; Ranucci G; Di Giorgio A; Vajro P; Mandato C
    Front Pediatr; 2023; 11():1061535. PubMed ID: 36865697
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
    Ateş BB; Ceylan AC; Hızal G; Duran F; Doğan HT; Hızlı Ş
    Turk J Pediatr; 2023; 65(6):1012-1017. PubMed ID: 38204320
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
    Davit-Spraul A; Fabre M; Branchereau S; Baussan C; Gonzales E; Stieger B; Bernard O; Jacquemin E
    Hepatology; 2010 May; 51(5):1645-55. PubMed ID: 20232290
    [TBL] [Abstract][Full Text] [Related]  

  • 12. ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.
    Yang J; Zhang YN; Wang RX; Hao CZ; Qiu Y; Chi H; Luan WS; Tang H; Zhang XJ; Sun X; Sheps JA; Ling V; Cao M; Wang JS
    J Med Genet; 2024 May; ():. PubMed ID: 38816193
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase levels in Taiwanese infants: role of MDR3 gene defect?
    Chen HL; Chang PS; Hsu HC; Lee JH; Ni YH; Hsu HY; Jeng YM; Chang MH
    Pediatr Res; 2001 Jul; 50(1):50-5. PubMed ID: 11420418
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Progressive familial intrahepatic cholestasis.
    Davit-Spraul A; Gonzales E; Baussan C; Jacquemin E
    Orphanet J Rare Dis; 2009 Jan; 4():1. PubMed ID: 19133130
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis.
    Qiu YL; Wang L; Huang M; Lian M; Wang F; Gong Y; Ma X; Hao CZ; Zhang J; Li ZD; Xing QH; Cao M; Wang JS
    J Cell Physiol; 2022 Jun; 237(6):2713-2723. PubMed ID: 35621037
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature.
    Tan YW; Ji HL; Lu ZH; Ge GH; Sun L; Zhou XB; Sheng JH; Gong YH
    World J Gastroenterol; 2018 Nov; 24(41):4716-4720. PubMed ID: 30416319
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
    Neřoldová M; Ciara E; Slatinská J; Fraňková S; Lišková P; Kotalová R; Globinovská J; Šafaříková M; Pfeiferová L; Zůnová H; Mrázová L; Stránecký V; Vrbacká A; Fabián O; Sticová E; Skanderová D; Šperl J; Kalousová M; Zima T; Macek M; Pawlowska J; Knisely AS; Kmoch S; Jirsa M
    PLoS One; 2023; 18(7):e0288907. PubMed ID: 37471416
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Case report: Unusual and extremely severe lipoprotein X-mediated hypercholesterolemia in extrahepatic pediatric cholestasis.
    Colantuono R; Pavanello C; Pietrobattista A; Turri M; Francalanci P; Spada M; Vajro P; Calabresi L; Mandato C
    Front Pediatr; 2022; 10():969081. PubMed ID: 35989999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Progressive familial intrahepatic cholestasis.
    Srivastava A
    J Clin Exp Hepatol; 2014 Mar; 4(1):25-36. PubMed ID: 25755532
    [TBL] [Abstract][Full Text] [Related]  

  • 20. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
    Girard M; Lacaille F; Verkarre V; Mategot R; Feldmann G; Grodet A; Sauvat F; Irtan S; Davit-Spraul A; Jacquemin E; Ruemmele F; Rainteau D; Goulet O; Colomb V; Chardot C; Henrion-Caude A; Debray D
    Hepatology; 2014 Jul; 60(1):301-10. PubMed ID: 24375397
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.