Results 21 to 30 of about 2,432,528 (230)

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]

, 2016
Timothy L. Hostelley, Sukanya Lodh, Norann A. Zaghloul   +2 more
openalex   +3 more sources

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome [PDF]

Frontiers in Genetics
IntroductionBardet–Biedl syndrome is a rare condition characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney anomalies. This syndrome has an autosomal recessive type of inheritance.
M. Orlova, P. Gundorova, V. Kadnikova, A. Polyakov   +3 more
doaj   +2 more sources

Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report [PDF]

Clinical Case Reports
Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but
Areeba Mariam Mehmood, S. M. Salman Hassan, Ayesha Malik, Muhammad Faizan, Muhammad Usama bin Shabbir, Aqsa Jabeen, Allahdad Khan, Aseel Kamal   +7 more
doaj   +2 more sources

Bardet-Biedl syndrome: a rare cause of end-stage kidney disease. Case report. [PDF]

Ann Med Surg (Lond)
Bouchoual M, Dadi K, Cherradi I, Anibar S, Berrajaa M, Serbati N, El Ouazzani M, Jabrane M, El Minaoui M, Arrayhani M.   +9 more
europepmc   +2 more sources

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report [PDF]

Clinical Case Reports
This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management.
Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq   +3 more
doaj   +2 more sources

Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort. [PDF]

Obesity (Silver Spring)
ABSTRACT Objective This analysis aimed to assess the efficacy of setmelanotide over 52 weeks in patients with Bardet‐Biedl syndrome (BBS) compared with an external natural history cohort from the international Clinical Registry Investigating BBS (CRIBBS).
Argente J, Haqq AM, Schorfheide JL, Touchot N, Huber C, Wiedemann U, Pomeroy J, Phase 3 BBS Trial Investigators.   +7 more
europepmc   +2 more sources

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. [PDF]

Journal of the American Society of Nephrology, 2017
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
E. Forsythe, K. Sparks, Sunayna Best, S. Borrows, B. Hoskins, A. Sabir, T. Barrett, Denise Williams, S. Mohammed, D. Goldsmith, D. Milford, D. Bockenhauer, L. Foggensteiner, P. Beales   +13 more
semanticscholar   +3 more sources

Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome. [PDF]

Hum Mol Genet
Nitoiu A, Zhang Q, Tavares E, Li JM, Ahmed K, Green-Sanderson K, Rashid M, Morcos SM, Maynes JT, Campos EI, Sheffield VC, Vincent A, Héon E.   +12 more
europepmc   +3 more sources

Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model [PDF]

, 2014
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous inherited human disorder displaying a pleotropic phenotype. Many of the symptoms characterized in the human disease have been reproduced in animal models carrying deletions or knock-in mutations ...
Khristofor Agassandian, Milan Patel, Marianna Agassandian, Karina E. Steren, Kamal Rahmouni, Val C. Sheffield, J. Patrick Card   +6 more
openalex   +5 more sources

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

The Lancet Diabetes and Endocrinology, 2022
BACKGROUND Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity.
A. Haqq, Wendy K Chung, H. Dollfus, R. Haws, G. Martos-Moreno, C. Poitou, J. Yanovski, R. Mittleman, G. Yuan, E. Forsythe, K. Clément, J. Argente   +11 more
semanticscholar   +1 more source