Research & Literature

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

Grochowski CM, Loomes KM, Spinner NB

Gene 2016; (576(1 Pt 3)):381-4.

Alagille syndrome: clinical perspectives.

Saleh M, Kamath BM, Chitayat D

The application of clinical genetics 2016; (9()):75-82 doi:10.2147/TACG.S86420.

Clinical characteristics and outcome of liver transplantation for Alagille syndrome in children.

Zhou T, Zhang JJ, Luo Y, et al.

Journal of digestive diseases 2017; (18(11)):658-662 doi:10.1111/1751-2980.12500.

Alagille Syndrome: An Overview.

Jesina D

Neonatal network : NN 2017; (36(6)):343-347 doi:10.1891/0730-0832.36.6.343.

Spectrum of cerebral arterial and venous abnormalities in Alagille syndrome.

Carpenter CD, Linscott LL, Leach JL, et al.

Pediatric radiology 2018; (48(4)):602-608 doi:10.1007/s00247-017-4043-2.

Successful living donor liver transplantation after stent implantation in a patient with Alagille syndrome and severe bilateral pulmonary artery stenosis.

Akagi K, Tanaka T, Baba S

Cardiology in the young 2018; (28(12)):1465-1467 doi:10.1017/S1047951118001476.

Alagille Syndrome.

Mitchell E, Gilbert M, Loomes KM

Clinics in liver disease 2018; (22(4)):625-641 doi:10.1016/j.cld.2018.06.001.

Alagille syndrome: an uncommon cause of intrahepatic cholestasis in adults.

Zhang W, Zhao X, Huang J, et al.

Revista espanola de enfermedades digestivas 2019; (111(4)):323-326 doi:10.17235/reed.2019.5679/2018.

Hepatocellular Carcinoma in Paediatric Patients with Alagille Syndrome: Case Series and Review of Literature.

Valamparampil JJ, Shanmugam N, Vij M, et al.

Journal of gastrointestinal cancer 2020; (51(3)):1047-1052 doi:10.1007/s12029-020-00391-2.

Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease.

Luong R, Feinstein JA, Ma M, et al.

The Journal of pediatrics 2021; (229()):86-94.e4 doi:10.1016/j.jpeds.2020.09.053.

Peritoneal dialysis in an adult patient with tetralogy of Fallot diagnosed with incomplete Alagille syndrome.

Ponikowska M, Pollak A, Kotwica-Strzalek E, et al.

BMC medical genetics 2020; (21(1)):195 doi:10.1186/s12881-020-01134-7.

Alagille syndrome and pregnancy.

Morton A, Kumar S

Obstetric medicine 2021; (14(1)):39-41 doi:10.1177/1753495X19849738.

Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic.

Prochazková D, Borská R, Fajkusová L, et al.

Diagnostics (Basel, Switzerland) 2021; (11(6)) doi:10.3390/diagnostics11060983.

Alagille Syndrome: A Focused Review on Clinical Features, Genetics, and Treatment.

Kohut TJ, Gilbert MA, Loomes KM

Seminars in liver disease 2021; (41(4)):525-537 doi:10.1055/s-0041-1730951.

Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.

Gonzales E, Hardikar W, Stormon M, et al.

Lancet (London, England) 2021; (398(10311)):1581-1592 doi:10.1016/S0140-6736(21)01256-3.

Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.

Li ZD, Abuduxikuer K, Wang L, et al.

Liver international : official journal of the International Association for the Study of the Liver 2022; (42(8)):1836-1848 doi:10.1111/liv.15292.

Impact of long-term administration of maralixibat on children with cholestasis secondary to Alagille syndrome.

Shneider BL, Spino CA, Kamath BM, et al.

Hepatology communications 2022; (6(8)):1922-1933 doi:10.1002/hep4.1992.

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.

Rodrigues Bento J, Krebsová A, Van Gucht I, et al.

Human mutation 2022; (43(12)):1824-1828 doi:10.1002/humu.24433.

Pulmonary artery pathologies in Alagille syndrome: a meta-analysis.

Yuan SM

Postepy w kardiologii interwencyjnej = Advances in interventional cardiology 2022; (18(2)):111-117 doi:10.5114/aic.2022.118526.

Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center.

Li D, Mao K, Sun J, et al.

International journal of general medicine 2023; (16()):77-83 doi:10.2147/IJGM.S382430.

Childhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist.

Chan AP, Venick RS

Journal of clinical gastroenterology 2023; (57(7)):686-693 doi:10.1097/MCG.0000000000001850.

Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report.

Echeverri-Mejía C, Ríos-Orozco SU, Lozada-Martínez ID, Narvaez-Rojas AR

Annals of medicine and surgery (2012) 2023; (85(4)):1231-1234 doi:10.1097/MS9.0000000000000473.

The Curious Case of Alagille Syndrome: A Case Report With NANDA-I Classification, NIC, and NOC Linkage to the Patient Care Plan.

Arora A, George M

Gastroenterology nursing : the official journal of the Society of Gastroenterology Nurses and Associates 2023; (46(6)):436-444 doi:10.1097/SGA.0000000000000755.

Management of adults with Alagille syndrome.

Ayoub MD, Bakhsh AA, Vandriel SM, et al.

Hepatology international 2023; (17(5)):1098-1112 doi:10.1007/s12072-023-10578-x.

Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis.

Cheng K, Rosenthal P

Hepatology communications 2023; (7(12)) doi:10.1097/HC9.0000000000000314.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Hansen BE, Vandriel SM, Vig P, et al.

Hepatology (Baltimore, Md.) 2024; (79(6)):1279-1292 doi:10.1097/HEP.0000000000000727.

Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

Yan J, Huang Y, Cao L, et al.

BMC pediatrics 2024; (24(1)):532 doi:10.1186/s12887-024-04973-y.

Kidney and vascular involvement in Alagille syndrome.

Ranchin B, Meaux MN, Freppel M, et al.

Pediatric nephrology (Berlin, Germany) 2025; (40(4)):891-899 doi:10.1007/s00467-024-06562-8.

Experience and Results of Liver Transplantation in Patients With Alagille Syndrome at Our Center.

Şafak A, Karakaya E, Varan B, et al.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2024; (22(Suppl 5)):94-99 doi:10.6002/ect.pedsymp2024.O27.

Presentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.

Hassan IE, Okudo G, Hajinicolaou C

Sudanese journal of paediatrics 2024; (24(2)):133-140 doi:10.24911/SJP.106-1720958990.

A case of hypoplasia of internal carotid artery and intracranial vasculopathy with Moyamoya syndrome in association with Alagille syndrome.

Mateti N, Singh R, Shakeel HA, et al.

Journal of cerebrovascular and endovascular neurosurgery 2026; (28(1)):64-69 doi:10.7461/jcen.2025.E2025.02.004.

Efficacy of ileal bile acid transport inhibitors in children with Alagille syndrome: a meta-analysis.

Lopes JR, Esteves IM, Libonati NB, et al.

European journal of pediatrics 2025; (184(12)):737 doi:10.1007/s00431-025-06576-w.

Syndromic Congenital Heart Disease Diagnosed in Adulthood: A Reminder of the Phenotypic Variability of Alagille Syndrome.

Campbell MK, Hallam J, Casella SL, Shah S

Case reports in cardiology 2026; (2026()):5884548 doi:10.1155/cric/5884548.

Beyond pruritus in Alagille syndrome: potential effects of maralixibat on fibrosis and portal hypertension-insights from two case studies.

Quintero-Bernabeu J, Padrós-Fornieles C, Mercadal-Hally M, et al.

Frontiers in medicine 2025; (12()):1707258 doi:10.3389/fmed.2025.1707258.