• <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
• <em>JAG1</em> and <em>THBS2</em> Mutations in a Child Presenting With Incomplete Alagille Syndrome
• "Tardus-parvus waveform" the only initial clue to mid-aortic syndrome- a rare cause of youth onset hypertension: A case report and a comprehensive review
• 20-Year Experience With Repair of Pulmonary Atresia or Stenosis and Major Aortopulmonary Collateral Arteries
• A child with chronic kidney disease and hepatic dysfunction: Answers
• A neonatal case of vascular ring with Alagille syndrome
• Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities
• Alagille Syndrome
• Alagille syndrome associated to JAG1 gene deletion. An unusual etiology
• Alagille syndrome with unusual common bile duct hypoplasia and gallbladder dysmorphism: Lesson based on a case report
• Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival - a case report
• Alagille syndrome: understanding the genotype-phenotype relationship and its potential therapeutic impact
• Alagille-like syndrome with surprising karyotype: a case report
• Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum
• Analysis of risk factors associated with extracorporeal membrane oxygenation after surgical repair of peripheral pulmonary artery stenoses
• Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency
• ASO silencing of a glycosyltransferase, Poglut1 , improves the liver phenotypes in mouse models of Alagille syndrome
• Bullous lesions following phototherapy in a newborn
• Cardiac complications caused by biliary diseases: A review of clinical manifestations, pathogenesis and treatment strategies of cholecardia syndrome
• Challenges and insights in Alagille syndrome: a case report
• Characterization of an induced pluripotent stem cell line NCHi011-A from a 23-year-old female with Alagille Syndrome harboring a heterozygous JAG1 pathogenic variant
• Childhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist
• Cholestatic Pruritus in Children: Conventional Therapies and Beyond
• Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease
• Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients with Alagille Syndrome
• Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome
• Combined liver-kidney transplantation with delayed kidney implantation: A case report
• Costs of pediatric liver transplantation among commercially insured and Medicaid-insured patients with cholestasis in the US
• Decreased smooth muscle cells and fibrous thickening of the tunica media in peripheral pulmonary artery stenosis in Alagille syndrome
• Diagnosis and management of Alagille and progressive familial intrahepatic cholestasis
• Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
• Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots
• Diseases of bile duct in children
• Dual Deletion of <em>Keap1</em> and <em>Rbpjκ</em> Genes in Liver Leads to Hepatomegaly and Hypercholesterolemia
• Durability of Aortic Homografts in Pulmonary Atresia and Major Aortopulmonary Collateral Arteries
• Efficacy and safety of odevixibat in patients with Alagille syndrome (ASSERT): a phase 3, double-blind, randomised, placebo-controlled trial
• Evaluation of Clinical Outcomes in Children with Intrahepatic Cholestasis Postpartial External Biliary Diversion: A Single-Center Experience
• Evaluation of living donors for hereditary liver disease (siblings, heterozygotes)
• Evaluation of Newborn Direct Bilirubin As Screening for Cholestatic Liver Disease
• Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
• Evolution of cerebrovascular imaging and associated clinical findings in children with Alagille syndrome
• Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants
• Expert consensus on diagnosis and treatment of Alagille syndrome associated liver disease (2024)
• Exploring odevixibat's efficacy in alagille syndrome: insights from recent clinical trials and IBAT inhibitor experiences
• Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children
• Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation
• Gastrointestinal effects of GLP-1 receptor agonists: mechanisms, management, and future directions
• Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene
• Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene
• Generation of iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene
• Generation of JAG1 gene c.1615C &gt; T heterozygous mutation human embryonic stem cell line (SDQLCHe001-A) using cytosine base editor
• Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
• Hepatoblastoma in a cirrhotic child with Alagille syndrome
• Heritable Chronic Cholestatic Liver Diseases: A Review
• Human Genetics of Semilunar Valve and Aortic Arch Anomalies
• Human Genetics of Tricuspid Atresia and Univentricular Heart
• Human Genetics of Ventricular Septal Defect
• Intraretinal hemorrhages and detailed retinal phenotype of three patients with Alagille syndrome
• JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome
• Jagged-mediated development and disease: Mechanistic insights and therapeutic implications for Alagille syndrome
• Loss of TAZ after YAP deletion severely impairs foregut development and worsens cholestatic hepatocellular injury
• Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome
• Management of adults with Alagille syndrome
• Management of refractory pruritus in Alagille syndrome with dupilumab treatment: A case report
• Maralixibat (Livmarli): CADTH Reimbursement Recommendation: Indication: For the treatment of cholestatic pruritus in patients with Alagille syndrome
• Modified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation
• mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs)
• Newly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus
• Non-peptide, once-per-day oral orforglipron to compete with established peptide-based, injectable GLP-1 receptor agonists
• Notch signaling in thyrocytes is essential for adult thyroid function and mammalian homeostasis
• Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
• Novel JAG1 variants leading to Alagille syndrome in two Chinese cases
• Novel use of the double kissing crush technique to stent complex pulmonary artery stenosis in a child with Alagille syndrome
• Odevixibat Treatment of Alagille Syndrome: A Case Report
• Odevixibat: A Review of a Bioactive Compound for the Treatment of Pruritus Approved by the FDA
• Oral findings in children with congenital cholestatic disease: A systematic review of case reports and case series
• Paediatric research sets new standards for therapy in paediatric and adult cholestasis
• Parachute Mitral Valve and Mid-Aortic Syndrome - Unusual Associations of Alagille Syndrome
• Pediatric Cholestatic Diseases: Common and Unique Pathogenic Mechanisms
• Plasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation
• Predictors of 6-year event-free survival in Alagille syndrome patients treated with maralixibat, an ileal bile acid transporter inhibitor
• Premature senescence of the liver in Alagille patients
• Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study
• Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases
• Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis
• Real-world experience of maralixibat in Alagille syndrome: Novel findings outside of clinical trials
• Resolution of Pruritus in a Child With Alagille Syndrome Treated With Maralixibat for Seven Years: Durable Response and Discontinuation of Other Medications
• Reverse Mirizzi Syndrome
• Sarcopenia is associated with osteopenia and impaired quality of life in children with genetic intrahepatic cholestatic liver disease
• Spatially segregated defects and IGF1-responsiveness of hilar and peripheral biliary organoids from a model of Alagille syndrome
• Successful Anesthesia Management of Pediatric Living Donor Liver Transplant With Mild Bilateral Pulmonary Artery Stenosis Due to Alagille Syndrome: A Case Report
• Systematic review: efficacy of therapies for cholestatic pruritus
• The Curious Case of Alagille Syndrome: A Case Report With NANDA-I Classification, NIC, and NOC Linkage to the Patient Care Plan
• The Curious Case of Alagille Syndrome: A Case Report With NANDA-I Classification, NIC, and NOC Linkage to the Patient Care Plan
• Transgender and Alagille Syndrome: A Rare Case of a Trans Woman with Alagille Syndrome
• Transporter Proteins as Therapeutic Drug Targets-With a Focus on SGLT2 Inhibitors
• Treatment of Cholestasis in Infants and Young Children
• Two unrelated Alagille syndrome cases of South Indian origin: Showing multi-exonic deletion and a novel mutation in <em>JAG1</em> gene
• Two unrelated Alagille syndrome cases of South Indian origin: Showing multi-exonic deletion and a novel mutation in JAG1 gene
• What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches