Results 31 to 40 of about 2,432,528 (230)

Recurrent pericarditis in a patient with Bardet–Biedl syndrome: A case report

Frontiers in Pediatrics, 2022
Bardet–Biedl syndrome is a rare autosomal recessive disorder characterized by rod-cone dystrophy, renal dysfunction, obesity, learning difficulties, hypogonadism, polydactyl, and many other minor features that can affect the cardiovascular, locomotive ...
Angela Mauro, Francesca Casini, Emanuele Chittano Congedo, Sara L’assainato, Francesca Pinto, Valentina Ansuini, Ruggiero Mascolo, Alice Pedroli, Luca Bernardo   +8 more
doaj   +1 more source

Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

Therapeutics and Clinical Risk Management, 2023
The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium.
A. Melluso, Floriana Secondulfo, G. Capolongo, G. Capasso, M. Zacchia   +4 more
semanticscholar   +1 more source

Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome.

J Clin Endocrinol Metab
Haqq AM, Poitou C, Chung WK, Forsythe E, Conroy R, Dollfus H, Malhotra S, Touchot N, Okorie U, Beales P, Clément K, Argente J.   +11 more
europepmc   +2 more sources

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan   +4 more
doaj   +1 more source

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

Kidney failure in Bardet–Biedl syndrome

Clinical Genetics, 2022
The aim of this study was to explore kidney failure (KF) in Bardet–Biedl syndrome (BBS), focusing on high‐risk gene variants, demographics, and morbidity. We employed the Clinical Registry Investigating BBS (CRIBBS) to identify 44 (7.2%) individuals with
Jennifer R. Meyer, Anthony D. Krentz, R. Berg, Jesse G Richardson, J. Pomeroy, S. Hebbring, R. Haws   +6 more
semanticscholar   +1 more source

Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome

Advances in Therapy, 2023
Introduction Bardet-Biedl syndrome (BBS) is a rare genetic disease associated with hyperphagia, a pathologic insatiable hunger, due to impaired signaling in the melanocortin-4 receptor (MC4R) pathway.
C. Ervin, L. Norcross, U. Mallya, S. Fehnel, R. Mittleman, M. Webster, A. Haqq, R. Haws   +7 more
semanticscholar   +1 more source

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Journal of Medical Genetics, 1999
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction.
P. Beales, N. Elcioglu, A. Woolf, D. Parker, F. Flinter   +4 more
semanticscholar   +1 more source

Genome-wide search for strabismus susceptibility loci. [PDF]

, 2003
The purpose of this study was to search for chromosomal susceptibility loci for comitant strabismus. Genomic DNA was isolated from 10mL blood taken from each member of 30 nuclear families in which 2 or more siblings are affected by either esotropia or ...
Fujiwara, Hirotake, Hasebe, Satoshi, Kitada, Mizue, Matsuo, Toshihiko, Ohtsuki, Hiroshi, Sato, Masako, Yamane, Takashi   +6 more
core   +1 more source