Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome

E Forsythe, K Sparks, BE Hoskins, E Bagkeris… - Clinical …, 2015 - Wiley Online Library
Bardet–Biedl syndrome is a rare ciliopathy characterized by retinal dystrophy, obesity,
intellectual disability, polydactyly, hypogonadism and renal impairment. Patients are at high …

BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families

C Stoetzel, V Laurier, L Faivre, A Megarbane… - Journal of human …, 2006 - nature.com
BBS8 is one of the eight genes identified to date for Bardet–Biedl syndrome (BBS)—an
autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly …

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

S Khan, IO Focșa, M Budișteanu… - American Journal of …, 2023 - Wiley Online Library
Abstract Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by
pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare …

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

O M'hamdi, C Redin, C Stoetzel, I Ouertani… - Clinical …, 2014 - Wiley Online Library
Bardet–Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by
obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies …

[HTML][HTML] Identification of a novel homozygous mutation in BBS10 gene in an Iranian family with Bardet-Biedl syndrome

M Dehani, D Zare-Abdollahi, A Bushehri… - Avicenna Journal of …, 2021 - ncbi.nlm.nih.gov
Background: Bardet–Biedl Syndrome (BBS) is a rare pleiotropic autosomal recessive
disease related to ciliopathies with approximately 25 causative genes. BBS is a …

A novel familial BBS12 mutation associated with a mild phenotype: implications for clinical and molecular diagnostic strategies

B Pawlik, A Mir, H Iqbal, Y Li, G Nürnberg… - Molecular …, 2010 - karger.com
Bardet-Biedl syndrome (BBS) is an autosomal recessively inherited ciliopathy mainly
characterized by rod-cone dystrophy, postaxial polydactyly, obesity, renal tract anomalies …

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

S Castro-Sánchez, M Álvarez-Satta, M Cortón… - Journal of Medical …, 2015 - jmg.bmj.com
Background Bardet-Biedl syndrome (BBS) is a pleiotropic autosomal recessive ciliopathy
that displays retinal dystrophy, obesity, polydactyly, cognitive impairment, urogenital …

Exome sequencing of a family with Bardet-Biedl syndrome identifies the common Russian mutation c. 1967_1968delTAinsC in BBS7

EN Suspitsin, AP Sokolenko, LV Lyazina… - Molecular …, 2015 - karger.com
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by
obesity, postaxial polydactyly, retinitis pigmentosa, mental retardation, and kidney …

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel …

G Esposito, F Testa, M Zacchia, AA Crispo… - BMC Medical …, 2017 - Springer
Abstract Background Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features
retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The …

[引用][C] Two sibs with Bardet–Biedl syndrome due to mutations in BBS12: No clues for modulation by a third mutation in BBS10

E Dulfer, LH Hoefsloot, A Timmer… - American Journal of …, 2010 - Wiley Online Library
Bardet–Biedl syndrome (BBS [OMIM 209900]) is a rare, genetically heterogeneous,
ciliopathy characterized by post-axial polydactyly, renal malformations, early-onset obesity …