Associated Papers
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Zacchia M et al.
Kidney International Reports, 2025
A diagnostic conundrum in Bardet-Biedl syndrome: when genetic diagnosis precedes clinical diagnosis.
Van Roy N et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2023
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 next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.
Tayebi N et al.
Molecular Vision, 2019
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito G et al.
Bmc Medical Genetics, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Exploring the molecular basis of Bardet-Biedl syndrome.
Katsanis N et al.
Human Molecular Genetics, 2001
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura DY et al.
Human Molecular Genetics, 2001
Select a paper to view details