Associated Papers
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
Stoupa A et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ et al.
European Journal of Human Genetics : Ejhg, 2024
Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.
Feng X et al.
Scientific Reports, 2024
JAG1 Variants Confer Genetic Susceptibility to Thyroid Dysgenesis and Thyroid Dyshormonogenesis in 813 Congenital Hypothyroidism in China.
Li M et al.
International Journal of General Medicine, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan JM et al.
The Journal of Clinical Investigation, 2020
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T et al.
Human Molecular Genetics, 2017
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.
de Filippis T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.
Bonachea EM et al.
Bmc Medical Genomics, 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
Digilio MC et al.
American Journal of Medical Genetics. Part A, 2013
Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot.
Guida V et al.
Clinical Genetics, 2011
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
Rauch R et al.
Journal of Medical Genetics, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer RC et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome.
Röpke A et al.
Human Mutation, 2003