Associated Papers
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data
Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.
Ghilardi S et al.
Veterinary Record Open, 2023
Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.
Zufiaurre-Seijo M et al.
International Journal of Molecular Sciences, 2023
Transposable element insertions in 1000 Swedish individuals.
Bilgrav Saether K et al.
Plos One, 2023
37506127 (PubMed )
Supplement: pone.0289346.s002.xlsx › Table_8
Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog.
Karlskov-Mortensen P et al.
Animal Genetics, 2018
Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.
Downs LM et al.
Animal Genetics, 2013
Non-syndromic retinal ciliopathies: translating gene discovery into therapy.
Estrada-Cuzcano A et al.
Human Molecular Genetics, 2012
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