Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Acta paediatrica

• Publication date

  2017-08-02

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/apa.13981PMID 28695677
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

  2016cited by this paper
• Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations

  2016cited by this paper
• Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome

  2015cited by this paper
• Alagille Syndrome Mimicking Biliary Atresia in Early Infancy

  2015cited by this paper
• JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

  2015cited by this paper
• KBG Syndrome: A Case Report and Longitudinal Assessment of Long‐Acting Recombinant Human Growth Hormone Therapy

  2015cited by this paper
• Improving outcomes of biliary atresia: French national series 1986-2009.

  2013cited by this paper
• Clinical utility gene card for: Alagille Syndrome (ALGS)

  2013cited by this paper
• Biliary atresia: clinical aspects.

  2012cited by this paper
• Performance comparison of benchtop high-throughput sequencing platforms

  2012cited by this paper
• JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome

  2012cited by this paper
• Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

  2012cited by this paper
• Alagille syndrome: pathogenesis, diagnosis and management

  2011cited by this paper
• NOTCH2 mutations in Alagille syndrome

  2011cited by this paper
• Effect of Kasai Procedure on Hepatic Outcome in Alagille Syndrome

  2010cited by this paper
• SNP array mapping of chromosome 20p deletions: Genotypes, phenotypes, and copy number variation

  2009cited by this paper
• NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

  2006cited by this paper
• Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

  2006cited by this paper
• Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome

  2003cited by this paper
• Consequences of JAG1 mutations

  2003influential reference
• The significance of human jagged 1 mutations detected in severe cases of extrahepatic biliary atresia

  2002cited by this paper
• Parental mosaicism of JAG1 mutations in families with Alagille syndrome

  2001cited by this paper
• Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome

  2001cited by this paper
• Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients

  2001cited by this paper
• Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

  1999cited by this paper
• Jagged‐1 mutation analysis in Italian Alagille syndrome patients

  1999cited by this paper
• Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families.

  1998cited by this paper
• Mutations in the human Jagged1 gene are responsible for Alagille syndrome

  1997cited by this paper
• Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

  1997cited by this paper
• Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases.

  1987cited by this paper

• Alagille syndrome with heterozygous JAG1 c.224 T > C variant: a case report and literature review

  2026cites this paper
• JAG1 and THBS2 Mutations in a Child Presenting With Incomplete Alagille Syndrome

  2023cites this paper
• Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

  2023cites this paper
• Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis

  2022cites this paper
• A Case of Infantile Alagille Syndrome With Severe Dyslipidemia: New Insight into Lipid Metabolism and Therapeutics

  2022cites this paper
• Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients

  2022cites this paper
• Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic

  2021cites this paper
• The morphological and histopathological assessment of Alagille syndrome with extrahepatic bile duct obstruction: the importance of the differential diagnosis with subgroup “o” biliary atresia

  2021cites this paper
• Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand

  2018cites this paper