Results 21 to 30 of about 7,409 (168)

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +2 more sources

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

Nature Communications, 2022
Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Here they identify a role for Bbs1 in lipid homeostasis of photoreceptor outer segments in zebrafish, which may contribute to ...
Markus Masek, Christelle Etard, Claudia Hofmann, Andreas J. Hülsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Strähle, Ruxandra Bachmann-Gagescu   +10 more
doaj   +1 more source

Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. [PDF]

, 2012
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and ...
D Jenkins, PL Beales, Knight, M, Helen May-Simera, Dagan Jenkins, Anna Diaz-Font, Philip L. Beales, Beales, PL, H May-Simera, Diaz-Font, A, Pravincumar, P, A Diaz-Font, Hernandez-Hernandez, V, May-Simera, H, V Hernandez, P Pravincumar, Victor Hernandez-Hernandez, Priyanka Pravincumar, Jenkins, D, M Knight, Martin Knight   +20 more
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Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey

Orphanet Journal of Rare Diseases, 2023
Background Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributing factor to early-onset obesity in
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq   +8 more
doaj   +1 more source

A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen

Indian Journal of Ophthalmology. Case Reports, 2023
A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen.
Gulshan Barwar, Swapnil M Parchand, Anil B Gangwe, Deepshikha Agrawal   +3 more
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Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

, 2022
Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning ...
Magdalena BUDISTEANU, Ina Ofelia FOCSA, Monica PANZARU, Mihaela BALGRADEAN, Lavinia CABA, Cristina RUSU, Claudia JURCA, Cristina STOICA, Lacramioara BUTNARIU, Florina NEDELEA   +9 more
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Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant

Journal of Indian Association of Pediatric Surgeons, 2023
Bardet–Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders.
Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank   +4 more
doaj   +1 more source

Additional file 1: of Mutation profile of BBS genes in patients with Bardetâ Biedl syndrome: an Italian study

, 2019
Table S1. List of genes in the NGS panel. Table S2. Distribution of BBS diagnostic criteria in patients with molecular diagnosis. Table S3. Clinical manifestations of Bardet-Biedl syndrome patients with unresolved genotype. Abbreviations: M, male; F, female; yrs., years; mo, months; RP retinitis pigmentosa; CRD, cone-rod dystrophy; HM, high myopia; O ...
Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Marta, Balzarini, Maltese, Paolo, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo   +16 more
openaire   +1 more source

Renal Disorders In Laurence-Moon-Bardet-Biedl Syndrome Patients

, 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; Clinic of Internal Medicine, St. Marina University Hospital Department of Propaedeutics of Internal Diseases Faculty of Medicine, Medical University of Varna
core   +2 more sources