Results 1 to 10 of about 2,432,528 (230)

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice [PDF]

Frontiers in Cell and Developmental Biology, 2023
In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn   +3 more
doaj   +3 more sources

Congenital melanocytic nevi in Bardet-Biedl syndrome [PDF]

Orphanet Journal of Rare Diseases
Background Bardet-Biedl Syndrome (BBS) is a rare obesogenic disorder affecting multiple organs. The diagnosis of BBS is usually difficult and delayed due to this syndrome’s wide variety of clinical features.
Karli Shelton, Phu Dang, Courtney McCorkle, Pooja Mallipaddi, Nicholas Hollman, Jeremy Pomeroy, Jesse Richards   +6 more
doaj   +4 more sources

Bardet–Biedl syndrome: a case series

Journal of Medical Case Reports, 2022
Background Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity,
Omer Ali Mohamed Ahmed Elawad, Mumen Abdalazim Dafallah, Mohammed Mahgoub Mirghani Ahmed, Ahmed Abdalazim Dafallah Albashir, Sahar Mohammed Abbas Abdalla, Habiballa Hago Mohamed Yousif, Anwar Ali Elamin Daw Elbait, Moawia Elbalal Mohammed, Hassan Ismail Hassan Ali, Mohamed Mutasim Mohamed Ahmed, Najla Fouad Nassir Mohammed, Fadwa Hashim Mohamed Osman, Mussab Alnazeer Yousif Mohammed, Ejlal Ahmed Ebrahim Abu Shama   +13 more
doaj   +2 more sources

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Orphanet Journal of Rare Diseases, 2023
Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet–Biedl syndrome,
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq   +11 more
doaj   +2 more sources

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   +2 more sources

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   +2 more sources

Psychosis as a rare neuropsychiatric manifestation of Bardet–Biedl syndrome: A case report [PDF]

Journal of International Medical Research
Bardet–Biedl syndrome is a rare, pleiotropic genetic disorder. Despite advances in genetic testing, the diagnosis of Bardet–Biedl syndrome remains primarily clinical, particularly in low-resource settings.
Selebogo Moremi, Mpho Hubona, Taboka Maphorisa, Anthony A Olashore   +3 more
doaj   +2 more sources

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report [PDF]

Journal of Medical Case Reports, 2011
Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D, Mihai Cristina M, Stoicescu Ramona M   +2 more
doaj   +2 more sources

Hyperphagia in Bardet-Biedl syndrome: Pathophysiology, burden, and management. [PDF]

Obes Rev
Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, and highly pleiotropic autosomal recessive ciliopathy. Patients typically present with early loss of vision, hyperphagia, severe obesity, learning difficulties, and renal dysfunction.
Beales PL, Cetiner M, Haqq AM, Miller J, Shoemaker AH, Valverde D, Zacchia M, Dollfus H.   +7 more
europepmc   +2 more sources

Managing Bardet–Biedl Syndrome—Now and in the Future

Frontiers in Pediatrics, 2018
Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date.
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli, Philip L. Beales   +3 more
doaj   +2 more sources