Results 31 to 40 of about 2,447,712 (252)

Atypical Retinitis Pigmentosa With Systemic Features in Bardet–Biedl Syndrome [PDF]

Clinical Case Reports
Recognition of systemic features such as polydactyly in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet–Biedl syndrome. Mild non‐pitting swelling of the hands—an incidental, non‐classical finding—was also noted, emphasizing ...
Muhammad Umar Ahsan, Saba Shaheen, Somaiya Ahmed   +2 more
doaj   +2 more sources

The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. [PDF]

Int J Med Sci
Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities ...
Li MH, Chen IC, Yang HW, Yen HC, Huang YC, Hsu CC, Chen YM, Ke YY.   +7 more
europepmc   +2 more sources

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

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

Congenital melanocytic nevi in Bardet-Biedl syndrome. [PDF]

Orphanet J Rare Dis
Shelton K, Dang P, McCorkle C, Mallipaddi P, Hollman N, Pomeroy J, Richards J.   +6 more
europepmc   +3 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

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

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

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