BBS1

Publications

Forsythe et al. Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome. J Am Soc Neph 2017; 28(3): 963–970. PMID.27659767.

Gupta et al. Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins. J Med Genet C Semin Med Genet; 2022;190(1):9-19. PMID: 35373910.

Melluso et al. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Clin Risk Manag. 2023; 19:115-132. PMID: 36741589.

Niederlova et al. Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. Hum Mutat 2019;40(11):2068-2087. PMID: 31283077.

Zacchia et al. Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies. Nephrol Dial Transplant. 2020;35(11):1853-1861. PMID: 31219585.

Zacchia et al. The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect- Kidney Dis. 2017;3(2):57-65. PMID: 28868293.

Zacchia et al. Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients. Clin Kidney J. 2020;14(6):1545-1551. PMID: 34084454.