Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion [PDF]
npj Genomic Medicine, 2018 Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays.
Jennifer Reiner +12 more
openalex +2 more sources
Bardet–Biedl syndrome in two sibling pairs: a case series [PDF]
Journal of Medical Case ReportsBackground Bardet–Biedl syndrome is a rare multisystem ciliopathy defined by retinal dystrophy, obesity, polydactyly, hypogonadism, and renal anomalies, often accompanied by neurodevelopmental and behavioral issues.
Abdul Aziz +8 more
doaj +2 more sources
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome [PDF]
Journal of the American Society of Nephrology, 2017 Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
Barrett, T +13 more
core +2 more sources
Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort. [PDF]
Obesity (Silver Spring)ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Argente J +7 more
europepmc +2 more sources
Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome. [PDF]
Orphanet J Rare DisBardet–Biedl syndrome (BBS) is a rare autosomal-recessive ciliopathy with pathogenic variants in 26 BBS genes. It affects multiple organs, including the kidney and liver, with varying degrees regarding extent and time of first manifestation.
Cetiner M +5 more
europepmc +2 more sources
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aimed to quantify the caregiver burden
Elizabeth Forsythe +8 more
openalex +2 more sources
Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model [PDF]
, 2014 Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations ...
A Amador-Arjona +56 more
core +4 more sources
Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report [PDF]
Journal of Medical Case ReportsBackground Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex.
Adithya Andanappa +9 more
doaj +2 more sources
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations [PDF]
European Journal of Human GeneticsFour European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS).
Hélène Dollfus +26 more
openalex +2 more sources
A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family [PDF]
Genetics and Molecular BiologyBardet-Biedl syndrome (BBS) is a rare ciliopathic disorder that segregates in an autosomal recessive manner. Genetic studies have so far identified 26 BBS-associated genes worldwide.
Sana Fatima +13 more
doaj +3 more sources