Results 71 to 80 of about 2,432,528 (230)

Additional file 2: of Mutation profile of BBS genes in patients with Bardetâ Biedl syndrome: an Italian study

, 2019
Mutation analysis. The DNA probe set was designed using specific Illumina DesignStudio online tool ( https://designstudio.illumina.com/ ). (DOCX 14 kb)
Manara, Elena, Paolacci, Stefano, D’Esposito, Fabiana, Abeshi, Andi, Ziccardi, Lucia, Falsini, Benedetto, Colombo, Leonardo, Iarossi, Giancarlo, Pilotta, Alba, Boccone, Loredana, Guerri, Giulia, Monica, Marica, Balzarini Marta, Maltese, Paolo, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo   +16 more
openaire   +1 more source

An evaluation of setmelanotide injection for chronic weight management in adult and pediatric patients with obesity due to Bardet–Biedl syndrome

Expert Opinion on Pharmacotherapy, 2023
Introduction Bardet–Biedl Syndrome (BBS) is a rare, multisystemic ciliopathy with an incidence of obesity of 89%. Mutations in genes encoding BBS proteins are linked to reduced leptin sensitivity of hypothalamic POMC neurons and reduced activation of the
Julia Lazareva, S. Brady, J. Yanovski
semanticscholar   +1 more source

Early diagnosis of Bardet-Biedl syndrome associated with obesity

Ожирение и метаболизм, 2008
One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.

doaj   +1 more source

Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A

Stem Cell Research, 2021
Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 ...
Qian Fu, Hui Wang, Nan Zhou, Yeping Jiang, Ying Liang, Fan Duan, Lan Mi   +6 more
doaj   +1 more source

Laparoscopic sleeve gastrectomy in adolescents with or without syndromic obesity: two years follow-up [PDF]

, 2017
Introduction Childhood obesity is an emerging health problem. Surgical treatment of obese adolescents, particularly those affected by congenital syndrome, represents a controversial issue.
ABBATINI, FRANCESCA, Brad Michael Watkins,, Emanuela Ceriati,, Francesco De Peppo,, IOSSA, ANGELO, Romina Caccamo,, SILECCHIA, Gianfranco   +6 more
core   +1 more source

Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants

American Journal of Medical Genetics. Part A, 2023
Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by ...
Sheraz Khan, I. Focșa, M. Budisteanu, Cristina Stoica, F. Nedelea, L. Bohiltea, L. Caba, L. Butnariu, M. Pânzaru, C. Rusu, Claudia Jurca, A. Chiriță-Emandi, C. Bănescu, Wasim Abbas, A. Sadeghpour, S. Baig, M. Bălgrădean, Erica E. Davis   +17 more
semanticscholar   +1 more source

Bardet-Biedl syndrome proteins control cilia length through regulation of actin polymerisation. [PDF]

, 2012
Primary cilia are cellular appendages important for signal transduction and sensing the environment. Bardet-Biedl syndrome proteins form a complex that is important for several cytoskeleton-related processes such as ciliogenesis, cell migration and ...
Beales, PL, Diaz-Font, A, Hernandez-Hernandez, V, Jenkins, D, Knight, M, May-Simera, H, Pravincumar, P   +6 more
core   +4 more sources

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

Clinical Medicine Insights: Case Reports, 2023
Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy.
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande   +8 more
doaj   +1 more source

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome

Genes, 2023
Bardet–Biedl syndrome (BBS) is a rare clinically and genetically heterogeneous autosomal recessive multi-systemic disorder with 22 known genes. The primary clinical and diagnostic features include six different hallmarks, such as rod–cone dystrophy ...
Hamed Nawaz, Mujahid, S. A. Khan, Farhana Bibi, Ahmed Waqas, Abdul Bari, Fardous, Niamat Khan, Nazif Muhammad, Amjad Khan, S. A. Paracha, Q. Alam, M. A. Kamal, Misbahudin Rafeeq, Noor Muhammad, Fayazul Haq, Shazia Khan, Arif Mahmood, Saadullah Khan, M. Umair   +19 more
semanticscholar   +1 more source

Joint TOS/OMA/OAC Expert Guidance Statement on the Pharmacological Management of United States Adults With Overweight or Obesity Using the GRADE Approach

Obesity, EarlyView.
Guidance recommendations by TOS/OMA/OAC for the use of obesity medications to treat obesity and its complications. ABSTRACT Background Obesity affects over 40% of US adults, with severe obesity on the rise. Despite recognition of obesity as a chronic disease, it remains underdiagnosed and undertreated.
Lydia Alexander, Jonathan Q. Purnell, Karlijn Burridge, Marc‐André Cornier, Angela Golden, Deborah Bade Horn, Michelle Look, Joe Nadglowski, Camila Ávila‐Oliver, Francisco Novillo, Ana María Rojas‐Gómez, Brad Hussey, Ximena Ramos Salas   +12 more
wiley   +1 more source