Disease: Malouf syndrome
- <em>NSD1</em> Inactivation and <em>SETD2</em> Mutation Drive a Convergence toward Loss of Function of H3K36 Writers in Clear Cell Renal Cell Carcinomas
- <em>UGT1A1</em> mutations and psychoses: towards understanding the relationship with unconjugated bilirubin
- <em>UGT1A1</em> Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays
- <em>UGT1A1</em>-related Bilirubin Encephalopathy/Kernicterus in Adults
- A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I
- A family study of the compound heterozygous mutation of the <em>UGT1A1</em> gene causing Crigler-Najjar syndrome type II
- A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese
- A Novel Pathogenic <em>UGT1A1</em> Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
- A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report
- A Quantitative <em>In Vitro</em> Potency Assay for Adeno-Associated Virus Vectors Encoding for the <em>UGT1A1</em> Transgene
- A Rare Case Report of Crigler Najjar Syndrome Type II
- AAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver
- AAV8 Gene Therapy Rescues the Newborn Phenotype of a Mouse Model of Crigler-Najjar
- ABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities
- Analysis of mutation site characteristics of Gilbert syndrome and Crigler--Najjar syndrome in relation to uridine diphosphate glucuronosyltransferase A1 gene
- Atrial fibrillation in older adults with cancer
- Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience
- Bilirubin metabolism and UDP-glucuronosyltransferase 1A1 variants in Asians: Pathogenic implications and therapeutic response
- Carbon monoxide breath test assessment of mild hemolysis in Gilbert's syndrome
- Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
- Clinical and pathological features of inherited metabolic liver disease in adults
- Combined Spinal and TAP Blocks for Laparoscopic Cholecystectomy for a Patient with Crigler-Najjar Type 2: A Case Report
- Comparison of a therapeutic-only versus prophylactic platelet transfusion policy for people with congenital or acquired bone marrow failure disorders
- CORRIGENDUM: Quantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1
- Crigler Najjar Syndrome Type 2 (CNS Type 2): An Unwonted Cause of Jaundice in Adults
- Crigler-Najjar Syndrome
- Crigler-Najjar Syndrome Type 1: Pathophysiology, Natural History, and Therapeutic Frontier
- Crigler-Najjar Syndrome Type II Diagnosed in a Patient with Jaundice Since Birth
- Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics
- Determining the Minimally Effective Dose of a Clinical Candidate AAV Vector in a Mouse Model of Crigler-Najjar Syndrome
- Diagnostic criteria and contributors to Gilbert's syndrome
- Differences in UGT1A1 gene mutations and pathological liver changes between Chinese patients with Gilbert syndrome and Crigler-Najjar syndrome type II
- Diffusion Tensor Imaging of Auditory Pathway in Patients With Crigler-Najjar Syndrome Type I: Correlation With Auditory Brainstem Response
- Diffusion Tensor Imaging of Microstructural Changes in the Gray and White Matter in Patients With Crigler-Najjar Syndrome Type I
- Disease burden and management of Crigler-Najjar syndrome: Report of a world registry
- Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives
- Early identification of heart failure deterioration through respiratory monitoring with adaptive servo-ventilation
- Effects of Different Cold Preservation Solutions on the Functions of Cultured Isolated Human Hepatocytes
- Efficacy of AAV8-h<em>UGT1A1</em> with Rapamycin in neonatal, suckling, and juvenile rats to model treatment in pediatric CNs patients
- Efficacy of Immune Checkpoint Inhibitors in Upper Tract Urothelial Carcinomas: Current Knowledge and Future Directions
- Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention
- Frailty as a Predictor of Mortality in Patients With Interstitial Lung Disease Referred for Lung Transplantation
- Frailty in lung transplantation: a systematic review
- Gene Therapy in Patients with the Crigler-Najjar Syndrome
- Generation of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A)
- Genes and Pathways Promoting Long-Term Liver Repopulation by <em>Ex Vivo </em>hYAP-ERT2 Transduced Hepatocytes and Treatment of Jaundice in Gunn Rats
- Genetic landscape of indolent and aggressive Kaposi sarcomas
- Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population
- Gilbert or Crigler-Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity
- Gilbert Syndrome
- Gilbert Syndrome and Genetic Findings in Children: A Tertiary-Center Experience from Turkey
- Hepatic Parenchymal Injury in Crigler-Najjar Type I
- Human liver stem cells express UGT1A1 and improve phenotype of immunocompromised Crigler Najjar syndrome type I mice
- Induction of fecal cholesterol excretion is not effective for the treatment of hyperbilirubinemia in Gunn rats
- Inflammatory signature of cerebellar neurodegeneration during neonatal hyperbilirubinemia in Ugt1 <sup>-/-</sup> mouse model
- Lipid nanoparticle-encapsulated mRNA therapy corrects serum total bilirubin level in Crigler-Najjar syndrome mouse model
- Liver Cirrhosis in a Patient with Crigler Najjar Syndrome
- Liver Fibrosis Associated With Crigler-Najjar Syndrome in a Compound Heterozygote: A Case Report
- Liver histologic changes in children with type 1 of Crigler-Najjar syndrome
- Liver Transplantation in a Child With Crigler-Najjar Syndrome Type I: A Case Report With Review of the Literature
- Management of Crigler-Najjar syndrome
- MRI in predicting conversion to multiple sclerosis within 1 year
- Neuro-inflammatory effects of photodegradative products of bilirubin
- Novel <em>UGT1A1</em> Gene Mutations in a Boy with Crigler-Najjar Syndrome Type II
- Novel combined UGT1A1 mutations in Crigler Najjar Syndrome type I
- Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia
- Oral findings in Crigler-Najjar syndrome type I
- Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome
- p.Cys223Tyr mutation causing Crigler-Najjar syndrome type II
- Paternal uniparental disomy of chromosome 2 resulting in a concurrent presentation of Crigler-Najjar syndrome type I and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Perioperative Management of Patient with Esophageal Carcinoma and Crigler-Najjar Syndrome Type 2: A Case Report
- Phase I/II Trial of Liver-derived Mesenchymal Stem Cells in Pediatric Liver-based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety Study of One Cycle of Heterologous Human Adult Liver-derived Progenitor Cells (Hepa
- Photophysical Mechanisms of Photobiomodulation Therapy as Precision Medicine
- Preclinical Development of an AAV8-hUGT1A1 Vector for the Treatment of Crigler-Najjar Syndrome
- Prevalence and Relevance of Pre-Existing Anti-Adeno-Associated Virus Immunity in the Context of Gene Therapy for Crigler-Najjar Syndrome
- Promoterless gene targeting without nucleases rescues lethality of a Crigler-Najjar syndrome mouse model
- Quantitative Systems Pharmacology Model of hUGT1A1-modRNA Encoding for the UGT1A1 Enzyme to Treat Crigler-Najjar Syndrome Type 1
- Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis
- Regenerative cell therapy for the treatment of hyperbilirubinemic Gunn rats with fresh and frozen human induced pluripotent stem cells-derived hepatic stem cells
- Renal cell carcinoma in children and adolescents: a retrospective study of a French-Italian series of 93 cases
- Repeated AAV-mediated gene transfer by serotype switching enables long-lasting therapeutic levels of hUgt1a1 enzyme in a mouse model of Crigler-Najjar Syndrome Type I
- Response: Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances
- SARS-CoV-2 BA.2 (Omicron) variant infection in pediatric liver transplanted recipients and cohabitants during 2022 Shanghai outbreak: a prospective cohort
- Severe Neonatal Hyperbilirubinemia in Crigler-Najjar Syndrome Model Mice Can Be Reversed With Zinc Protoporphyrin
- Spectrum of UGT1A1 variants in Pakistani children affected with inherited unconjugated hyperbilirubinemias
- Study on spectrum of UGT1A1 mutations in connection with inherited non-hemolytic unconjugated hyperbilirubinemia
- Successful living donor liver transplantation plus domino-auxiliary partial orthotopic liver transplantation for pediatric patients with metabolic disorders
- The added value of brain MR spectroscopy in children with Crigler-Najjar syndrome type-I: correlation with demographic, neurodevelopmental, and laboratory findings
- The First Two Liver Transplantations in Syria
- The network structure of mania symptoms differs between people with and without binge eating
- The relationship between <em>UGT1A1</em> gene & various diseases and prevention strategies
- Translational research for bone marrow failure patients
- Transplanted Human Pluripotent Stem Cell-Derived Mesenchymal Stem Cells Support Liver Regeneration in Gunn Rats
- UGT1A1 genotypes and unconjugated hyperbilirubinemia phenotypes in post-neonatal Chinese children: A retrospective analysis and quantitative correlation
- UGT1A1 polymorphisms in cancer: impact on irinotecan treatment
- Ultrasound-guided in Utero Transplantation of Placental Stem Cells into the Liver of Crigler-Najjar Syndrome Model Rat
- Unusual Indications for a Liver Transplant: A Single-Center Experience
- Update on a previously reported missense mutation: The c.1160 C>A mutation in the UGT1A1 gene result in Crigler-Najjar syndrome type 1
- Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand
- What's next in gene therapy for Crigler-Najjar syndrome?