Results 141 to 150 of about 11,428 (200)

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

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

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   +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

Bifid Epiglottis in Bardet–Biedl Syndrome

Airway
Tejesh C Anandaswamy, Namita Anne, Chaitra M Muthalgiri, Akshita Niranjan   +3 more
doaj   +1 more source

'In the dark': parents' lifelong commitment to supporting children with Bardet-Biedl syndrome. [PDF]

Health Psychol Behav Med
Ullmann Miller J, Fauske L, Sigurdardottir S, Arfa S, von der Lippe C.   +4 more
europepmc   +1 more source

A Rare Case of Bardet-Biedl Syndrome Caused by a Heterozygous Point Variant in BBS7 and a CNV Involved BBS7. [PDF]

Mol Syndromol
Yang X, Zhou X, Zhou C, Li C, Wu S, Zhou Y, Du J, Guo X, Huang X.   +8 more
europepmc   +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   +1 more source

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome. [PDF]

Orphanet J Rare Dis
Cetiner M, Finkelberg I, Schiepek F, Pape L, Hirtz R, Büscher AK.   +5 more
europepmc   +1 more source

Clinical burden of hyperphagia, obesity and health outcomes in paediatric individuals with Bardet-Biedl syndrome: A CRIBBS data analysis. [PDF]

Pediatr Obes
Pomeroy J, Okorie U, Richardson JG, Faucher A, Ionescu-Ittu R, Vekeman F, Huber C, Haws RM.   +7 more
europepmc   +1 more source