Results 31 to 40 of about 7,409 (168)

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Orphanet Journal of Rare Diseases, 2023
Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet–Biedl syndrome,
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq   +11 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, Marta, Balzarini, Maltese, Paolo, Buzzonetti, Luca, Rossetti, Luca, Bertelli, Matteo   +16 more
openaire   +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

Bardet- Biedl Syndrome: case series and literature revision

, 2018
The Bardet-Biedl Syndrome is a rare autosomal recessive disorder with clinical and genetic heterogeneity. Its main characteristics are pigmentary retinopathy, obesity, polydactyly, learning disabilities, various degrees of intellectual disability, renal ...
Abelardo de Souza Couto Junior (5629973), Nathalia Bufolin Toledo (6301898), Eduardo Henrique Morizot Leite (5311982), Alléxya Affonso Antunes Marcos (5311724), Juliana Borges Risolia Maimone (6301901)   +4 more
core   +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

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Assessment of genetic variation(s) in BBS10, BBS6, and BBS12 in a family from Sindh, Pakistan diagnosed with Bardet-Biedl Syndrome

Journal of the Pakistan Medical Association
Objective: To analyse the symptoms of Bardet-Biedl Syndrome, and to check the association of BBS10 (Bardet-Biedl syndrome 10 gene), BBS6 (Bardet-Biedl syndrome 6 gene) and BBS12 (Bardet-Biedl syndrome 12 gene) with the pathogenesis of Bardet-Biedl ...
Sehrish Fatima, Maryam Amjad, Faiza Zehra, Khalid Sher, Suneel Kumar, Saima Saleem, Sitwat Zehra   +6 more
doaj   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome

, 2011
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-14.
Susumu Kusunoki, Ichiro Tanaka, Mitsuru Ohishi, Keiko Yanagihara, Toshihide Yamashita, Hiromi Iwahashi, Makito Hirano, Hikaru Sakamoto, Yusaku Nakamura, Ryu Ishihara, Chiharu Isono, Yasushi Ikuno, Toshiyuki Mano   +12 more
core   +1 more source

Risk factors for severe renal disease in Bardet Biedl syndrome [PDF]

, 2017
Bardet–Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
Barrett, Timothy; id_orcid
core   +3 more sources