254 related articles for article (PubMed ID: 10590916)
1. Clinical and molecular genetics of Alagille syndrome.
Krantz ID; Piccoli DA; Spinner NB
Curr Opin Pediatr; 1999 Dec; 11(6):558-64. PubMed ID: 10590916
[TBL] [Abstract][Full Text] [Related]
2. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz ID; Colliton RP; Genin A; Rand EB; Li L; Piccoli DA; Spinner NB
Am J Hum Genet; 1998 Jun; 62(6):1361-9. PubMed ID: 9585603
[TBL] [Abstract][Full Text] [Related]
3. [From gene to disease: arteriohepatic dysplasia or Alagille syndrome].
Brooks AS; Dooijes D
Ned Tijdschr Geneeskd; 2003 Jun; 147(25):1213-5. PubMed ID: 12848056
[TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.
Colliton RP; Bason L; Lu FM; Piccoli DA; Krantz ID; Spinner NB
Hum Mutat; 2001 Feb; 17(2):151-2. PubMed ID: 11180599
[TBL] [Abstract][Full Text] [Related]
5. Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
Lu F; Morrissette JJ; Spinner NB
Am J Hum Genet; 2003 Apr; 72(4):1065-70. PubMed ID: 12649809
[TBL] [Abstract][Full Text] [Related]
6. Alagille syndrome and the Jagged1 gene.
Piccoli DA; Spinner NB
Semin Liver Dis; 2001 Nov; 21(4):525-34. PubMed ID: 11745040
[TBL] [Abstract][Full Text] [Related]
7. Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.
Heritage ML; MacMillan JC; Colliton RP; Genin A; Spinner NB; Anderson GJ
Hum Mutat; 2000 Nov; 16(5):408-16. PubMed ID: 11058898
[TBL] [Abstract][Full Text] [Related]
8. Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Pilia G; Uda M; Macis D; Frau F; Crisponi L; Balli F; Barbera C; Colombo C; Frediani T; Gatti R; Iorio R; Marazzi MG; Marcellini M; Musumeci S; Nebbia G; Vajro P; Ruffa G; Zancan L; Cao A; DeVirgilis S
Hum Mutat; 1999; 14(5):394-400. PubMed ID: 10533065
[TBL] [Abstract][Full Text] [Related]
9. Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.
Morrissette JD; Colliton RP; Spinner NB
Hum Mol Genet; 2001 Feb; 10(4):405-13. PubMed ID: 11157803
[TBL] [Abstract][Full Text] [Related]
10. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A; Kujat A; Gräber M; Giannakudis J; Hansmann I
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497640
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.
Heritage ML; MacMillan JC; Anderson GJ
Hum Mutat; 2002 Dec; 20(6):481. PubMed ID: 12442286
[TBL] [Abstract][Full Text] [Related]
13. Consequences of JAG1 mutations.
Kamath BM; Bason L; Piccoli DA; Krantz ID; Spinner NB
J Med Genet; 2003 Dec; 40(12):891-5. PubMed ID: 14684686
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Human Jagged 1 mutants cause liver defect in Alagille syndrome by overexpression of hepatocyte growth factor.
Yuan ZR; Kobayashi N; Kohsaka T
J Mol Biol; 2006 Feb; 356(3):559-68. PubMed ID: 16403414
[TBL] [Abstract][Full Text] [Related]
16. Jagged1 mutations in alagille syndrome.
Spinner NB; Colliton RP; Crosnier C; Krantz ID; Hadchouel M; Meunier-Rotival M
Hum Mutat; 2001; 17(1):18-33. PubMed ID: 11139239
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
Yuan ZR; Kohsaka T; Ikegaya T; Suzuki T; Okano S; Abe J; Kobayashi N; Yamada M
Hum Mol Genet; 1998 Sep; 7(9):1363-9. PubMed ID: 9700188
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Parental mosaicism of JAG1 mutations in families with Alagille syndrome.
Giannakudis J; Röpke A; Kujat A; Krajewska-Walasek M; Hughes H; Fryns JP; Bankier A; Amor D; Schlicker M; Hansmann I
Eur J Hum Genet; 2001 Mar; 9(3):209-16. PubMed ID: 11313761
[TBL] [Abstract][Full Text] [Related]
20. The genetics and ocular findings of Alagille syndrome.
Kim BJ; Fulton AB
Semin Ophthalmol; 2007; 22(4):205-10. PubMed ID: 18097983
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]