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Items: 1 to 20 of 168

1.

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.

PMID:
12497640
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.

3.

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.

PMID:
11180599
4.

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.

PMID:
11058898
5.

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.

PMID:
12442286
6.

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.

PMID:
10533065
7.

Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Crosnier C, Driancourt C, Raynaud N, Hadchouel M, Meunier-Rotival M.

Hum Mutat. 2001;17(1):72-3.

PMID:
11139247
8.

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 Jun 15;10(6):e0130355. doi: 10.1371/journal.pone.0130355. eCollection 2015.

9.

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.

PMID:
9207787
10.

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.

PMID:
9700188
11.

Clinical and molecular genetics of Alagille syndrome.

Krantz ID, Piccoli DA, Spinner NB.

Curr Opin Pediatr. 1999 Dec;11(6):558-64. Review.

PMID:
10590916
12.

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

Morrissette JD, Colliton RP, Spinner NB.

Hum Mol Genet. 2001 Feb 15;10(4):405-13.

PMID:
11157803
13.

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.

PMID:
9207788
14.

Alagille syndrome and the Jagged1 gene.

Piccoli DA, Spinner NB.

Semin Liver Dis. 2001 Nov;21(4):525-34. Review.

PMID:
11745040
15.

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.

Jurkiewicz D, Popowska E, Gläser C, Hansmann I, Krajewska-Walasek M.

Hum Mutat. 2005 Mar;25(3):321.

PMID:
15712272
16.

[From gene to disease: arteriohepatic dysplasia or Alagille syndrome].

Brooks AS, Dooijes D.

Ned Tijdschr Geneeskd. 2003 Jun 21;147(25):1213-5. Review. Dutch.

PMID:
12848056
17.

Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome.

Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M, Meunier-Rotival M.

Gastroenterology. 1999 May;116(5):1141-8.

PMID:
10220506
18.

Expression of mutant JAGGED1 alleles in patients with Alagille syndrome.

Boyer J, Crosnier C, Driancourt C, Raynaud N, Gonzales M, Hadchouel M, Meunier-Rotival M.

Hum Genet. 2005 May;116(6):445-53. Epub 2005 Mar 17.

PMID:
15772854
19.

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 1;103(2):166-71.

PMID:
11568926
20.

The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome.

Yuan ZR, Okaniwa M, Nagata I, Tazawa Y, Ito M, Kawarazaki H, Inomata Y, Okano S, Yoshida T, Kobayashi N, Kohsaka T.

Clin Genet. 2001 May;59(5):330-7.

PMID:
11359464

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