• <em>BBS1</em> branchpoint variant is associated with non-syndromic retinitis pigmentosa
• A 5' UTR Mutation Contributes to Down-Regulation of <em>Bbs7</em> in the Berlin Fat Mouse
• 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 Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report
• A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome
• A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities
• A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family
• A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family
• A population-based description of familial clustering of Hirschsprung disease
• A rare case of Bardet-Biedl syndrome
• A rare case of obesity. Can it be Bardet-Biedl Syndrome?
• A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina
• Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
• Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
• Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters
• Bardet-Biedl Syndrome
• Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
• Bardet-Biedl Syndrome Overview
• Bardet-Biedl syndrome-7 (<em>BBS7</em>) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
• Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model
• Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease
• Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins
• BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells
• BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1
• BBS7-SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis
• Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
• Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
• Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
• Central precocious puberty occurring in Bardet-Biedl syndrome-10 as a method for self-protection of human reproductive function: A case report
• Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome
• Cilia and Obesity
• Cilium Length and Intraflagellar Transport Regulation by Kinases PKG-1 and GCK-2 in Caenorhabditis elegans Sensory Neurons
• Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Clinical spectrum of male patients with OFD1 mutations
• Commentary: Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome: Genomic sequencing, gene therapy, and gene editing
• Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10)
• Correction to: A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome
• Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders
• Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a <em>Bardet-Biedl Syndrome 9</em> (<em>BBS9</em>) deletion
• Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome
• Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period
• Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene
• Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
• Fetal ciliopathies: a retrospective observational single-center study
• Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant
• Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T&gt;G/c.1135G&gt;C
• Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT
• Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome
• Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario
• Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
• Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
• Genetic predisposition to tinnitus in the UK Biobank population
• Hypothalamic primary cilium: A hub for metabolic homeostasis
• Identification of bone metabolism disorders in patients with Alström and Bardet-Biedl syndromes based on markers of bone turnover and mandibular atrophy
• Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
• Insulin regulates Bbs4 during adipogenesis
• Kidney failure in Bardet-Biedl syndrome
• Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome
• Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis
• Low fluid shear stress promoted ciliogenesis via Dvl2 in hUVECs
• Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <em>MKS1</em> Truncating Variants
• Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex
• Molecular genetic analysis of 30 families with Joubert syndrome
• Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
• Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
• Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
• Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
• Oral and dental findings in Bardet-Biedl syndrome: A case report
• Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial
• Pediatric laparoscopic sleeve gastrectomy in Turkey: Short-term results
• Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
• Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes
• Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
• Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
• Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing
• Renal features of Bardet Biedl syndrome: A single center experience
• Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion
• Renal transplantation in Bardet-Biedl Syndrome
• Reproduction Function in Male Patients With Bardet Biedl Syndrome
• Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II
• Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome
• Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies
• Role of Primary Cilia in Odontogenesis
• Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development
• Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74
• Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome
• Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet-Biedl Syndrome
• Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program
• The challenge and promise of rare disease diagnosis in China
• The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan
• Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype
• Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
• Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome
• Variants in RABL2A causing male infertility and ciliopathy
• Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
• Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome