Associated Papers
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.
Williams J et al.
Frontiers in Cell and Developmental Biology, 2023
37333983 (PubMed )
Supplement: DataSheet1.pdf
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Ece Solmaz A et al.
European Journal of Medical Genetics, 2015
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
Hoskins BE et al.
Human Mutation, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K et al.
American Journal of Human Genetics, 2003
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K et al.
Nature Genetics, 2002
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