BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 17786115)

  • 1. Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart.
    Robert ML; Lopez T; Crolla J; Huang S; Owen C; Burvill-Holmes L; Stumper O; Turnpenny PD
    Clin Dysmorphol; 2007 Oct; 16(4):241-6. PubMed ID: 17786115
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome.
    Le Gloan L; Pichon O; Isidor B; Boceno M; Rival JM; David A; Le Caignec C
    Eur J Med Genet; 2008; 51(6):651-7. PubMed ID: 18775522
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2).
    Oda T; Elkahloun AG; Meltzer PS; Okajima K; Sugiyama K; Wada Y; Chandrasekharappa SC
    Hum Mutat; 2000 Jul; 16(1):92. PubMed ID: 10874319
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Jagged1 mutations in patients ascertained with isolated congenital heart defects.
    Krantz ID; Smith R; Colliton RP; Tinkel H; Zackai EH; Piccoli DA; Goldmuntz E; Spinner NB
    Am J Med Genet; 1999 May; 84(1):56-60. PubMed ID: 10213047
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 20p (20p12-p13) encompassing JAG1 and a literature review of prenatal diagnosis of Alagille syndrome.
    Chen CP; Yin CS; Wang LK; Chern SR; Chen SW; Lai ST; Wu PS; Chen WL; Wang W
    Taiwan J Obstet Gynecol; 2017 Jun; 56(3):390-393. PubMed ID: 28600057
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
    Li L; Krantz ID; Deng Y; Genin A; Banta AB; Collins CC; Qi M; Trask BJ; Kuo WL; Cochran J; Costa T; Pierpont ME; Rand EB; Piccoli DA; Hood L; Spinner NB
    Nat Genet; 1997 Jul; 16(3):243-51. PubMed ID: 9207788
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders.
    Bourdeaut F; Guiochon-Mantel A; Fabre M; Martelli H; Patte C; Porta G; Bernard O; Delattre O; Jacquemin E
    Pediatr Blood Cancer; 2008 Apr; 50(4):908-11. PubMed ID: 17584876
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
    Oda T; Elkahloun AG; Pike BL; Okajima K; Krantz ID; Genin A; Piccoli DA; Meltzer PS; Spinner NB; Collins FS; Chandrasekharappa SC
    Nat Genet; 1997 Jul; 16(3):235-42. PubMed ID: 9207787
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12.
    Oda T; Elkahloun AG; Meltzer PS; Chandrasekharappa SC
    Genomics; 1997 Aug; 43(3):376-9. PubMed ID: 9268641
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alagille syndrome associated with a paracentric inversion 20p12.2p13 disrupting the JAG1 gene.
    Stankiewicz P; Rujner J; Löffler C; Krüger A; Nimmakayalu M; Piłacik B; Krajewska-Walasek M; Gutkowska A; Hansmann I; Giannakudis I
    Am J Med Genet; 2001 Oct; 103(2):166-71. PubMed ID: 11568926
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.
    Kamath BM; Thiel BD; Gai X; Conlin LK; Munoz PS; Glessner J; Clark D; Warthen DM; Shaikh TH; Mihci E; Piccoli DA; Grant SF; Hakonarson H; Krantz ID; Spinner NB
    Hum Mutat; 2009 Mar; 30(3):371-8. PubMed ID: 19058200
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alagille syndrome: an overview.
    Vajro P; Ferrante L; Paolella G
    Clin Res Hepatol Gastroenterol; 2012 Jun; 36(3):275-7. PubMed ID: 22521120
    [TBL] [Abstract][Full Text] [Related]  

  • 13. JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.
    Xie X; Lu Y; Wang X; Wu B; Yu H
    Int J Clin Exp Pathol; 2015; 8(7):8506-11. PubMed ID: 26339425
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion.
    Laufer-Cahana A; Krantz ID; Bason LD; Lu FM; Piccoli DA; Spinner NB
    Am J Med Genet; 2002 Oct; 112(2):190-3. PubMed ID: 12244554
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
    Lalani SR; Thakuria JV; Cox GF; Wang X; Bi W; Bray MS; Shaw C; Cheung SW; Chinault AC; Boggs BA; Ou Z; Brundage EK; Lupski JR; Gentile J; Waisbren S; Pursley A; Ma L; Khajavi M; Zapata G; Friedman R; Kim JJ; Towbin JA; Stankiewicz P; Schnittger S; Hansmann I; Ai T; Sood S; Wehrens XH; Martin JF; Belmont JW; Potocki L
    J Med Genet; 2009 Mar; 46(3):168-75. PubMed ID: 18812404
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene symbol: JAG1. Disease: Alagille syndrome.
    Conidi ME; Michelucci A; Maggiore G; Simi P
    Hum Genet; 2008 Oct; 124(3):322. PubMed ID: 18846681
    [No Abstract]   [Full Text] [Related]  

  • 17. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):349. PubMed ID: 19694053
    [No Abstract]   [Full Text] [Related]  

  • 18. Gene symbol: JAG1. Disease: Alagille syndrome.
    Conidi ME; Michelucci A; Maggiore G; Simi P
    Hum Genet; 2008 Oct; 124(3):321-2. PubMed ID: 18846680
    [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):347. PubMed ID: 19694048
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel human pathological mutations. Gene symbol: JAG1. Disease: Alagille syndrome.
    Marchetti D; Iascone MR; Pezzoli L
    Hum Genet; 2009 Aug; 126(2):350-1. PubMed ID: 19694056
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.