Results 141 to 150 of about 2,447,712 (252)

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

A genome-wide association study using a DNA pooling strategy identifies BBS9 and GLIS3 as novel loci influencing patient’s outcome after stroke [PDF]

, 2011
Stroke is a major cause of morbidity in developed countries and therefore finding adequate treatments to promote patient’s recovery is a priority task, requiring the elucidation of the molecular pathways influencing brain recovery.
Albergaria, I., Ferro, J.M., Gaspar, G., Krug, T., Manso, H., Oliveira, S.A., Paulos-Pinheiro, S., Sobral, J., Vicente, A.M.   +8 more
core  

Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome [PDF]

, 2019
M. Cristina Digilio, Giulio Calcagni, Alessandro De Luca, Valentina Guida, Bruno Marino   +4 more
openalex   +1 more source

Molecular confirmation of the causes of inherited visual impairment in Northern Pakistan [PDF]

, 2009
Families with inherited visual impairment were identified and examined from January 2000 to December 2005 and given a clinical diagnosis. Known genes and loci were screened for mutations or linkage at Institute of Ophthalmology and Neurosciences ...
Adhi, Mehreen, Inglehearn, Chris F, Jafri, Syed Hussain, McKibbin, Martin, Rashid, Yasmin   +4 more
core   +2 more sources

Correction: Mutations in MKKS cause Bardet-Biedl syndrome [PDF]

, 2001

openalex   +1 more source

The Bardet-Biedl Syndrome complex component BBS1 regulates proteasome-dependent F-actin clearance from the centrosome to enable its translocation to the T cell immune synapse [PDF]

, 2020
Chiara Cassioli, Anna Onnis, Francesca Finetti, Nagaja Capitani, Ewoud B. Compeer, Michael L. Dustin, Cosima T. Baldari   +6 more
openalex   +1 more source

A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus

International Journal of Medical Students
Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment, hypogonadism, and renal anomalies.
Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan   +4 more
doaj   +1 more source

Molecular basis of the obesity associated with Bardet–Biedl syndrome

, 2011
Deng‐Fu Guo, Kamal Rahmouni
openalex   +2 more sources

Bardet-Biedl syndrome, renal transplant and percutaneous nephrolithotomy: a case report and review of the literature [PDF]

, 2009

core   +1 more source

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.

Cell, 2010
Hua Jin, Susan Roehl White, Toshinobu Shida, S. Schulz, Mike Aguiar, S. Gygi, J. Bazan, M. Nachury   +7 more
semanticscholar   +1 more source