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Items: 1 to 20 of 21


Alagille syndrome: clinical perspectives.

Saleh M, Kamath BM, Chitayat D.

Appl Clin Genet. 2016 Jun 30;9:75-82. doi: 10.2147/TACG.S86420. Review.


Cholestasis beyond the Neonatal and Infancy Periods.

Khalaf R, Phen C, Karjoo S, Wilsey M.

Pediatr Gastroenterol Hepatol Nutr. 2016 Mar;19(1):1-11. doi: 10.5223/pghn.2016.19.1.1. Review.


Modeling congenital disease and inborn errors of development in Drosophila melanogaster.

Moulton MJ, Letsou A.

Dis Model Mech. 2016 Mar;9(3):253-69. doi: 10.1242/dmm.023564. Review.


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.


Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center.

Ahn KJ, Yoon JK, Kim GB, Kwon BS, Go JM, Moon JS, Bae EJ, Noh CI.

Korean J Pediatr. 2015 Oct;58(10):392-7. doi: 10.3345/kjp.2015.58.10.392.


A faithful JAGGED1 haploinsufficiency mouse model of arteriohepatic dysplasia (Alagille syndrome) after all.

Huppert SS.

Hepatology. 2016 Feb;63(2):365-7. doi: 10.1002/hep.28338. No abstract available.


Jagged1 (JAG1): Structure, expression, and disease associations.

Grochowski CM, Loomes KM, Spinner NB.

Gene. 2016 Jan 15;576(1 Pt 3):381-4. doi: 10.1016/j.gene.2015.10.065. Review.


Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Vázquez-Martínez ER, Varela-Fascinetto G, García-Delgado C, Rodríguez-Espino BA, Sánchez-Boiso A, Valencia-Mayoral P, Heller-Rosseau S, Pelcastre-Luna EL, Zenteno JC, Cerbón M, Morán-Barroso VF.

Meta Gene. 2013 Dec 8;2:32-40. doi: 10.1016/j.mgene.2013.10.002.


Clinical utility gene card for: Alagille Syndrome (ALGS).

Leonard LD, Chao G, Baker A, Loomes K, Spinner NB.

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.140. No abstract available.


Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene.

Uberos J, Moreno L, Muñoz-Hoyos A.

Clin Med Insights Pediatr. 2012 Jul 26;6:61-6. doi: 10.4137/CMPed.S9621.


New Genetic Insights into Congenital Heart Disease.

Ware SM, Jefferies JL.

J Clin Exp Cardiolog. 2012 Jun 15;S8. pii: 003.


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. doi: 10.1002/ajmg.a.35255.


Notch signaling in human development and disease.

Penton AL, Leonard LD, Spinner NB.

Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Review.


NOTCH2 mutations in Alagille syndrome.

Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB.

J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544.


Renal anomalies in Alagille syndrome: a disease-defining feature.

Kamath BM, Podkameni G, Hutchinson AL, Leonard LD, Gerfen J, Krantz ID, Piccoli DA, Spinner NB, Loomes KM, Meyers K.

Am J Med Genet A. 2012 Jan;158A(1):85-9. doi: 10.1002/ajmg.a.34369.


Alagille syndrome: pathogenesis, diagnosis and management.

Turnpenny PD, Ellard S.

Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Review.


Genetic interactions between hepatocyte nuclear factor-6 and Notch signaling regulate mouse intrahepatic bile duct development in vivo.

Vanderpool C, Sparks EE, Huppert KA, Gannon M, Means AL, Huppert SS.

Hepatology. 2012 Jan;55(1):233-43. doi: 10.1002/hep.24631.


Pathologic lower extremity fractures in children with Alagille syndrome.

Bales CB, Kamath BM, Munoz PS, Nguyen A, Piccoli DA, Spinner NB, Horn D, Shults J, Leonard MB, Grimberg A, Loomes KM.

J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70. doi: 10.1097/MPG.0b013e3181cb9629.


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.


A longitudinal study to identify laboratory predictors of liver disease outcome in Alagille syndrome.

Kamath BM, Munoz PS, Bab N, Baker A, Chen Z, Spinner NB, Piccoli DA.

J Pediatr Gastroenterol Nutr. 2010 May;50(5):526-30. doi: 10.1097/MPG.0b013e3181cea48d.

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