Results 51 to 60 of about 2,432,528 (230)
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, 2022 Bardet–Biedl syndrome (BBS) is an autosomal recessive ciliopathy characterized by extensive inter- and intra-familial variability, in which oligogenic interactions have been also reported.
I. Perea-Romero +17 more
semanticscholar +1 more source
A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome
Case Reports in Ophthalmology, 2015 Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration.
Cynthia S. Chiu +3 more
doaj +1 more source
Renal Disorders In Laurence-Moon-Bardet-Biedl Syndrome Patients [PDF]
, 2023 Laurence-Moon-Bardet-Biedl Syndrome, also known as Bardet-Biedl Syndrome, falls under the category of hereditary cil-iopathies. This rare genetic disorder is associated with multiple organ impairments.
Stoyanova, Liliya
core +2 more sources
Report of four cases of Bardet-Biedl syndrome
Brazilian Journal of Nephrology, 2014 Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center.
Paulo Roberto Santos +3 more
doaj +1 more source
Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do
Journal of Multidisciplinary Healthcare, 2022 Bardet – Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex.
L. Caba +4 more
semanticscholar +1 more source
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
core +1 more source
Bardet–Biedl syndrome: The pleiotropic role of the chaperonin‐like BBS6, 10, and 12 proteins
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022 Bardet–Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries.
Neha Gupta +4 more
semanticscholar +1 more source
Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2018 The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a
Oriana Amata +4 more
doaj +1 more source
Weight loss with glucagon‐like peptide‐1 receptor agonists in Bardet‐Biedl syndrome
Clinical Obesity, 2022 Bardet–Biedl syndrome (BBS) is a rare genetic condition, characterized by ciliary protein dysfunction, leading to multi‐organ damage. People with BBS can develop early‐onset severe obesity and associated problems including the metabolic syndrome, type 2 ...
Shawg Ganawa +3 more
semanticscholar +1 more source
Bardet Biedl syndrome – report of a very rare case
National Journal of Clinical Anatomy, 2016 Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti +2 more
doaj +1 more source