Bardet‐Biedl syndrome: weight patterns and genetics in a rare obesity syndrome

J Pomeroy, AD Krentz, JG Richardson… - Pediatric …, 2021 - Wiley Online Library
Summary Background Bardet‐Biedl syndrome (BBS) is a rare genetic disorder that severely
inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric weight …

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians

M Benzinou, A Walley, S Lobbens, MA Charles… - Diabetes, 2006 - Am Diabetes Assoc
Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of
abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac …

Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population

Y Fan, P Rahman, L Peddle, D Hefferton… - International journal of …, 2004 - nature.com
BACKGROUND AND OBJECTIVES: Obesity is one of the primary clinical features of Bardet–
Biedl Syndrome (BBS), a genetically heterogeneous disorder that is usually inherited as an …

[HTML][HTML] Autozygosity mapping of Bardet–Biedl syndrome to 12q21. 2 and confirmation of FLJ23560 as BBS10

DRA White, A Ganesh, D Nishimura… - European journal of …, 2007 - nature.com
Bardet–Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder
characterized by variable obesity, pigmentary retinopathy, polydactyly, mental retardation …

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

A Putoux, T Attie-Bitach, J Martinovic, MC Gubler - Pediatric Nephrology, 2012 - Springer
Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the
basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal …

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance

PP Feuillan, D Ng, JC Han, JC Sapp… - The Journal of …, 2011 - academic.oup.com
Objective: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder of the
primary cilium associated with obesity. In BBS mouse models, ciliary dysfunction leads to …

[HTML][HTML] Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

DY Nishimura, RE Swiderski, CC Searby… - The American Journal of …, 2005 - cell.com
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous,
pleiotropic human disorder characterized by obesity, retinopathy, polydactyly, renal and …

Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

LA Safieh, MA Aldahmesh, H Shamseldin… - Journal of medical …, 2010 - jmg.bmj.com
Bardet–Biedl syndrome (BBS) is a ciliopathy with pleiotropic effect that manifests primarily
as renal insufficiency, polydactyly, retinal dystrophy and obesity. The current phenotype …

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

ER Eichers, MM Abd-El-Barr, R Paylor, RA Lewis, W Bi… - Human genetics, 2006 - Springer
Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and
genetic heterogeneity. Although the BBS phenotype is variable both between and within …

Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction

JW Tomlinson - Diabetes, Obesity and Metabolism, 2024 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by
retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic …