Results 121 to 130 of about 7,409 (168)

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy. [PDF]

BMC Ophthalmol
Wang L, Li M, Dou G, Sun J, Zhou Z, Wang Y, Zhang Z.   +6 more
europepmc   +1 more source

Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway. [PDF]

Orphanet J Rare Dis
Rustad CF, Bragadottir R, Tveten K, Nordgarden H, Miller JU, Åsten PM, Vasconcelos G, Kulseth MA, Holla ØL, Olsen HG, von der Lippe C, Sigurdardottir S.   +11 more
europepmc   +1 more source

Analysis of the Body Mass Index of Latino Patients With Bardet-Biedl Syndrome. [PDF]

Cureus
Murati Calderon RA, Vázquez-Folch SJ, Izquierdo N.   +2 more
europepmc   +1 more source

Case Report: Improvement in cognitive functioning following setmelanotide initiation in a patient with Bardet-Biedl syndrome. [PDF]

Front Endocrinol (Lausanne)
Kuk M, Richards J, Ross RA.
europepmc   +1 more source

Should GLP-1 receptor agonist therapy be used to treat obesity in Bardet-Biedl syndrome? [PDF]

J Clin Invest
Tomlinson JW.
europepmc   +1 more source

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   +1 more source

Weight Loss With Topiramate and Phentermine Combination Therapy in a Patient With Bardet-Biedl Syndrome. [PDF]

JCEM Case Rep
Hassan D, Salama M, Kumar S, Muthusamy K.   +3 more
europepmc   +1 more source

Compound heterozygous mutations in <i>BBS7</i> cause kidney abnormalities in Bardet-Biedl syndrome. [PDF]

Genes Dis
Min J, Xiao R, Fu Q, Huang Y, Wang H.
europepmc   +1 more source

Patient and caregiver experiences with a patient-support program for setmelanotide treatment of patients with Bardet-Biedl syndrome. [PDF]

Orphanet J Rare Dis
Finkelberg I, Polichronidou IM, Hühne T, Brensing P, Karaterzi S, Jaegers J, Gäckler A, Pape L, Cetiner M.   +8 more
europepmc   +1 more source