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Additional file 1: of Mutation profile of BBS genes in patients with Bardetâ Biedl syndrome: an Italian study

, 2019
Table S1. List of genes in the NGS panel. Table S2. Distribution of BBS diagnostic criteria in patients with molecular diagnosis. Table S3. Clinical manifestations of Bardet-Biedl syndrome patients with unresolved genotype. Abbreviations: M, male; F, female; yrs., years; mo, months; RP retinitis pigmentosa; CRD, cone-rod dystrophy; HM, high myopia; O ...
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

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Contemporary Clinical Trials Communications, 2021
Background A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
R. Haws, Gregory Gordon, Joan C. Han, J. Yanovski, G. Yuan, M. Stewart   +5 more
semanticscholar   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source

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

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Bardet‐Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome

Pediatric obesity, 2020
Bardet‐Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric weight patterns, and thus optimal periods of intervention, are poorly understood.
J. Pomeroy, Anthony D. Krentz, Jesse G Richardson, R. Berg, Jeffrey J. Vanwormer, R. Haws   +5 more
semanticscholar   +1 more source

Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2018
The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a
Oriana Amata, Enrica Scalisi, Alessandro Conti, Giuseppe Umana, Matteo Cioni   +4 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

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

A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy [PDF]

, 2017
Progressive retinal atrophy is a common cause of blindness in the dog and affects >100 breeds. It is characterized by gradual vision loss that occurs due to the degeneration of photoreceptor cells in the retina. Similar to the human counterpart retinitis
Bathgate, Roslyn, Chew, Tracy, Haase, Bianca, Kaukonen, Maria K., Lohi, Hannes T., Mascord, Lisa J., Wade, Claire M., Willet, Cali E.   +7 more
core   +2 more sources