A systematic review of genetic syndromes with obesity
Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …
involves the co‐presentation of other characteristics, such as mental retardation, dysmorphic …
Genetics of human Bardet–Biedl syndrome, an updates
Bardet–Biedl syndrome (BBS) is an autosomal recessive multisystemic human genetic
disorder characterized by six major defects including obesity, mental retardation, renal …
disorder characterized by six major defects including obesity, mental retardation, renal …
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …
Bardet-biedl syndrome
EN Suspitsin, EN Imyanitov - Molecular syndromology, 2016 - karger.com
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is
characterized by heterogeneous clinical manifestations including primary features of the …
characterized by heterogeneous clinical manifestations including primary features of the …
Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes
V Niederlova, M Modrak, O Tsyklauri… - Human …, 2019 - Wiley Online Library
Bardet‐Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …
anomalies. Most patients carry mutations in genes encoding for the subunits of the BBSome …
Structure and activation mechanism of the BBSome membrane protein trafficking complex
Bardet-Biedl syndrome (BBS) is a currently incurable ciliopathy caused by the failure to
correctly establish or maintain cilia-dependent signaling pathways. Eight proteins …
correctly establish or maintain cilia-dependent signaling pathways. Eight proteins …
Single-cell RNA sequencing of the retina in a model of retinitis pigmentosa reveals early responses to degeneration in rods and cones
D Karademir, V Todorova, LJA Ebner, M Samardzija… - BMC biology, 2022 - Springer
Background In inherited retinal disorders such as retinitis pigmentosa (RP), rod
photoreceptor-specific mutations cause primary rod degeneration that is followed by …
photoreceptor-specific mutations cause primary rod degeneration that is followed by …
Delineating the spectrum of genetic variants associated with Bardet-Biedl syndrome in consanguineous Pakistani pedigrees
This study aimed to find the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani
consanguineous families. A total of 12 affected families were enrolled. Clinical investigations …
consanguineous families. A total of 12 affected families were enrolled. Clinical investigations …
Obesity genetics: insights from the Pakistani population
The Pakistani population is extensively diverse, indicating a genetic admixture of European
and Central/West Asian migrants with indigenous South Asian gene pools. Pakistanis are …
and Central/West Asian migrants with indigenous South Asian gene pools. Pakistanis are …
[HTML][HTML] Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five
consanguineous families of Pakistani origin. Methods Linkage in two families (A and B) was …
consanguineous families of Pakistani origin. Methods Linkage in two families (A and B) was …