Associated Papers
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders.
Shetty M et al.
Molecular Syndromology, 2017
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
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
Kroes HY et al.
European Journal of Medical Genetics, 0
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