Associated Papers
Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene.
Atasay R et al.
Molecular Syndromology, 2025
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
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Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A et al.
Molecular Biology Reports, 2021
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2015
Mutation spectrum of Joubert syndrome and related disorders among Arabs.
Ben-Salem S et al.
Human Genome Variation, 2014
Joubert syndrome (and related disorders) (OMIM 213300).
Parisi MA et al.
European Journal of Human Genetics : Ejhg, 2007
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
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Utsch B et al.
Pediatric Nephrology (berlin, Germany), 2006
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Ferland RJ et al.
Nature Genetics, 2004
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