Results 201 to 210 of about 2,432,528 (230)

'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

Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

Proceedings of the National Academy of Sciences of the United States of America, 2008
N. Berbari, Jacqueline S. Lewis, G. Bishop, C. Askwith, K. Mykytyn   +4 more
semanticscholar   +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

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

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

A Case of Bardet-Biedl Syndrome with a Pituitary Tumor and Growth Hormone Deficiency

, 2013
Kumiko Tanaka, Daigoro Hirohama, Midori Shirota, Yuzaburo Uetake, Manabu Taguchi, Koji Takano, Seiji Fukumoto, Toshiro Fujita   +7 more
openalex   +2 more sources

First Reported Co-Occurrence of Bardet-Biedl Syndrome Type 10 and Autism Spectrum Disorder: A Case Report and Clinical Review. [PDF]

Mol Syndromol
Güleç A, Gerik-Celebi HB.
europepmc   +1 more source

A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier. [PDF]

AACE Clin Case Rep
Ahmad Mian D, Shah ZA, Ikram MT, Fatima K, Hamid H, Ahmad H.   +5 more
europepmc   +1 more source

Healthcare needs, care use and health status outcomes in adults with Bardet-Biedl syndrome: a cross-sectional study in Norway. [PDF]

BMJ Open
Rustad CF, Bragadottir R, Nordgarden H, Miller JU, Weedon-Fekjær MS, Arfa S, Åsten PM, Tveten K, von der Lippe C, Sigurdardottir S.   +9 more
europepmc   +1 more source

Transcriptome-guided GLP-1 receptor therapy rescues metabolic and behavioral disruptions in a Bardet-Biedl syndrome mouse model. [PDF]

J Clin Invest
Singh A, Haq N, Yang M, Luckey S, Mansouri S, Campbell-Thompson M, Jin L, Christou-Savina S, de Lartigue G.   +8 more
europepmc   +1 more source