Associated Papers
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
De Mori R et al.
Cell and Tissue Research, 2024
38502237 (PubMed )
Supplement: 441_2024_3876_MOESM1_ESM.docx
Generation of an iPSC line from skin fibroblasts of a patient with Joubert syndrome carrying the homozygous loss of function variant c.787dupC in the AHI1 gene.
Serpieri V et al.
Stem Cell Research, 2023
Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A et al.
Molecular Biology Reports, 2021
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).
Al-Gazali L et al.
Human Mutation, 2010
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA et al.
Journal of Medical Genetics, 2006
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM et al.
Annals of Neurology, 2006
Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.
Sztriha L et al.
American Journal of Medical Genetics. Part A, 2005
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
Dixon-Salazar T et al.
American Journal of Human Genetics, 2004
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