Disease: Bardet-Biedl syndrome 4
- <em>RPI-1</em> (human <em>DCDC2</em>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <em>C. elegans</em>
- A Case of Laurence Moon Bardet Biedl Syndrome
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (<em>BBS4</em>) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy
- A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy
- A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia
- An evaluation of setmelanotide injection for chronic weight management in adult and pediatric patients with obesity due to Bardet-Biedl syndrome
- Atypical phenotype of a patient with Bardet-Biedl syndrome type 4
- Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites
- Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis
- Bardet-Biedl Syndrome Overview
- Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature
- BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
- Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
- Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium
- Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
- Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
- Congenital Hepatic Fibrosis Overview ─ RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Crohn's Disease in a Patient With Bardet-Biedl Syndrome: Random Anomaly or Rare Phenotypic Trait?
- Cystic kidney diseases in children
- Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins
- Exome capture sequencing identifies a novel mutation in BBS4
- Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
- Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
- Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
- Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome
- Mechanism of positioning the cell nucleus in vertebrate photoreceptors
- Nonsyndromic Retinitis Pigmentosa Overview
- NRF2 negatively regulates primary ciliogenesis and hedgehog signaling
- Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses