BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 21752016)

  • 1. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
    Guegan K; Stals K; Day M; Turnpenny P; Ellard S
    Clin Genet; 2012 Jul; 82(1):33-40. PubMed ID: 21752016
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.
    Grochowski CM; Rajagopalan R; Falsey AM; Loomes KM; Piccoli DA; Krantz ID; Devoto M; Spinner NB
    Am J Med Genet A; 2015 Apr; 167A(4):891-3. PubMed ID: 25737299
    [No Abstract]   [Full Text] [Related]  

  • 3. Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
    Samejima H; Torii C; Kosaki R; Kurosawa K; Yoshihashi H; Muroya K; Okamoto N; Watanabe Y; Kosho T; Kubota M; Matsuda O; Goto M; Izumi K; Takahashi T; Kosaki K
    Genet Test; 2007; 11(3):216-27. PubMed ID: 17949281
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate.
    Warthen DM; Moore EC; Kamath BM; Morrissette JJ; Sanchez-Lara PA; Piccoli DA; Krantz ID; Spinner NB
    Hum Mutat; 2006 May; 27(5):436-43. PubMed ID: 16575836
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
    Dědič T; Jirsa M; Keil R; Rygl M; Šnajdauf J; Kotalová R
    PLoS One; 2015; 10(11):e0143939. PubMed ID: 26618708
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype.
    Ryan MJ; Bales C; Nelson A; Gonzalez DM; Underkoffler L; Segalov M; Wilson-Rawls J; Cole SE; Moran JL; Russo P; Spinner NB; Kusumi K; Loomes KM
    Hepatology; 2008 Dec; 48(6):1989-97. PubMed ID: 19026002
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency.
    McCright B; Lozier J; Gridley T
    Development; 2002 Feb; 129(4):1075-82. PubMed ID: 11861489
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1.
    El-Rassy I; Bou-Abdallah J; Al-Ghadban S; Bitar F; Nemer G
    Am J Med Genet A; 2008 Apr; 146A(7):937-9. PubMed ID: 18266235
    [No Abstract]   [Full Text] [Related]  

  • 9. Renal involvement and the role of Notch signalling in Alagille syndrome.
    Kamath BM; Spinner NB; Rosenblum ND
    Nat Rev Nephrol; 2013 Jul; 9(7):409-18. PubMed ID: 23752887
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
    Jurkiewicz D; Gliwicz D; Ciara E; Gerfen J; Pelc M; Piekutowska-Abramczuk D; Kugaudo M; Chrzanowska K; Spinner NB; Krajewska-Walasek M
    J Appl Genet; 2014 Aug; 55(3):329-36. PubMed ID: 24748328
    [TBL] [Abstract][Full Text] [Related]  

  • 11. JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.
    Li L; Dong J; Wang X; Guo H; Wang H; Zhao J; Qiu Y; Abuduxikuer K; Wang J
    PLoS One; 2015; 10(6):e0130355. PubMed ID: 26076142
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1.
    Dyack S; Cameron M; Otley A; Greer W
    Genet Med; 2007 Aug; 9(8):544-50. PubMed ID: 17700393
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):344-5. PubMed ID: 19694039
    [No Abstract]   [Full Text] [Related]  

  • 14. Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation.
    Ziesenitz VC; Loukanov T; Gläser C; Gorenflo M
    Cardiol Young; 2016 Jan; 26(1):164-7. PubMed ID: 25613755
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):347-8. PubMed ID: 19694049
    [No Abstract]   [Full Text] [Related]  

  • 16. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):347. PubMed ID: 19694048
    [No Abstract]   [Full Text] [Related]  

  • 17. Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
    Lin HC; Le Hoang P; Hutchinson A; Chao G; Gerfen J; Loomes KM; Krantz I; Kamath BM; Spinner NB
    Am J Med Genet A; 2012 May; 158A(5):1005-13. PubMed ID: 22488849
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):346. PubMed ID: 19694046
    [No Abstract]   [Full Text] [Related]  

  • 19. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):345-6. PubMed ID: 19694044
    [No Abstract]   [Full Text] [Related]  

  • 20. Alagille syndrome: pathogenesis, diagnosis and management.
    Turnpenny PD; Ellard S
    Eur J Hum Genet; 2012 Mar; 20(3):251-7. PubMed ID: 21934706
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.