Disease: Alagille syndrome
- <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
- Alagille Syndrome and Repeat Oxygenator Failure during Cardiopulmonary Bypass: A Word of Caution
- Alagille syndrome due to a <em>de novo NOTCH</em>2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report
- Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report
- Alagille Syndrome: 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
- Bilateral branch pulmonary arterial reconstruction in the Alagille syndrome: The technique and its pitfalls
- 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
- Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis
- 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 and genetic analysis in Chinese children with Alagille syndrome
- Clinical and Genetic Characteristics of Alagille Syndrome in Adults
- Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center
- Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease
- Clinical, Laboratory, Radiological, and Genetic Characteristics of Pediatric Patients 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
- 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
- Different clinical and genetic features of Alagille patients with progressive disease <em>versus</em> a jaundice-free course
- Different clinical and genetic features of Alagille patients with progressive disease versus a jaundice-free course
- Diseases of bile duct in children
- 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
- Findings in percutaneous trans-hepatic cholecysto-cholangiography in neonates and infants presenting with conjugated hyperbilirubinemia: emphasis on differential diagnosis and cholangiographic patterns
- 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 iPSC line NCHi012-A from a patient with Alagille syndrome and heterozygous pathogenic variant in the JAG1 gene
- Generation of JAG1 gene c.1615C > 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
- Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
- Hepatoblastoma in a cirrhotic child with Alagille syndrome
- Ileal Bile Acid Transporter Blockers for Cholestatic Liver Disease in Pediatric Patients with Alagille Syndrome: A Systematic Review and Meta-Analysis
- Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery
- 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
- Letter to the Editor: Much more needed in natural history of 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
- 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
- Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
- Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report
- Pediatric Cholestatic Diseases: Common and Unique Pathogenic Mechanisms
- Plasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation
- Poly-hydroxylated bile acids and their prognostic roles in Alagille syndrome
- 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
- Regenerative failure of intrahepatic biliary cells in Alagille syndrome rescued by elevated Jagged/Notch/Sox9 signaling
- 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
- Serum Bile Acid Profiling and Mixed Model Analysis Reveal Biomarkers Associated with Pruritus Reduction in Maralixibat-Treated Patients with BSEP Deficiency
- Sex differences and risk factors for bleeding in Alagille syndrome
- 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
- Successful pediatric liver transplantation case with a positive SARS-CoV-2 test at the time of transplant
- Surgical Experience With Crossed and Anomalous Origin of the Pulmonary Arteries From the Pulmonary Trunk: A Single Center Report of 24 Cases
- 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
- The role of Notch signaling pathway in metabolic bone diseases
- THREE-YEAR FOLLOW-UP OF PROGRESSIVE CHORIORETINAL ATROPHY IN ATYPICAL ALAGILLE SYNDROME: A CASE REPORT
- Transgender and Alagille Syndrome: A Rare Case of a Trans Woman with Alagille Syndrome
- 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