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Items: 1 to 20 of 144

1.

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome.

McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E.

Circulation. 2002 Nov 12;106(20):2567-74.

2.

JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.

Digilio MC, Luca AD, Lepri F, Guida V, Ferese R, Dentici ML, Angioni A, Marino B, Dallapiccola B.

Am J Med Genet A. 2013 Dec;161A(12):3133-6. doi: 10.1002/ajmg.a.36148. Epub 2013 Aug 16.

PMID:
23956173
3.

Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.

Bauer RC, Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB.

Hum Mutat. 2010 May;31(5):594-601. doi: 10.1002/humu.21231.

4.

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
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. Epub 2003 Mar 14.

6.

Consequences of JAG1 mutations.

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB.

J Med Genet. 2003 Dec;40(12):891-5.

7.

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. doi: 10.1017/S1047951114002753. Epub 2015 Jan 23.

PMID:
25613755
8.

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. Erratum in: Eur J Hum Genet 2001 Jul;9(7):559.

9.

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.

10.

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
11.

[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
12.

The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia.

Kohsaka T, Yuan ZR, Guo SX, Tagawa M, Nakamura A, Nakano M, Kawasasaki H, Inomata Y, Tanaka K, Miyauchi J.

Hepatology. 2002 Oct;36(4 Pt 1):904-12.

PMID:
12297837
13.

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
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.

15.

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, Hoyer J, Kaulitz R, Singer H, Rauch A.

J Med Genet. 2010 May;47(5):321-31. doi: 10.1136/jmg.2009.070391. Epub 2009 Nov 30.

PMID:
19948535
16.

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 7;84(1):56-60.

PMID:
10213047
17.

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome.

Onouchi Y, Kurahashi H, Tajiri H, Ida S, Okada S, Nakamura Y.

J Hum Genet. 1999;44(4):235-9.

PMID:
10429362
18.

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. doi: 10.1002/hep.22538.

PMID:
19026002
19.

Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndrome.

Hofmann JJ, Briot A, Enciso J, Zovein AC, Ren S, Zhang ZW, Radtke F, Simons M, Wang Y, Iruela-Arispe ML.

Development. 2012 Dec 1;139(23):4449-60. doi: 10.1242/dev.084871. Epub 2012 Oct 24.

20.

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.

Dědič T, Jirsa M, Keil R, Rygl M, Šnajdauf J, Kotalová R.

PLoS One. 2015 Nov 30;10(11):e0143939. doi: 10.1371/journal.pone.0143939. eCollection 2015.

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