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Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome as the main focus of this review. Renal ciliopathies are characterized by the presence of kidney cysts that develo …
This group of overlapping and genetically heterogeneous diseases includes polycystic kidney disease, nephronophthisis, and Bardet- …
Bardet-Biedl syndrome.
Forsythe E, Beales PL. Forsythe E, et al. Eur J Hum Genet. 2013 Jan;21(1):8-13. doi: 10.1038/ejhg.2012.115. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713813 Free PMC article.
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. ...
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post- …
Genetic Determinants of Childhood Obesity.
Littleton SH, Berkowitz RI, Grant SFA. Littleton SH, et al. Mol Diagn Ther. 2020 Dec;24(6):653-663. doi: 10.1007/s40291-020-00496-1. Epub 2020 Oct 1. Mol Diagn Ther. 2020. PMID: 33006084 Free PMC article. Review.
Syndromic obesity includes disorders such as Prader-Willi syndrome, Bardet-Biedl syndrome, and Alstrom syndrome. Non-syndromic cases of obesity can be further separated into rarer instances of monogenic obesity and much more common forms of polygenic obesity. …
Syndromic obesity includes disorders such as Prader-Willi syndrome, Bardet-Biedl syndrome, and Alstrom syndrome. Non-sy …
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alstrom syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J. Haqq AM, et al. Lancet Diabetes Endocrinol. 2022 Dec;10(12):859-868. doi: 10.1016/S2213-8587(22)00277-7. Epub 2022 Nov 7. Lancet Diabetes Endocrinol. 2022. PMID: 36356613 Free PMC article. Clinical Trial.
In terms of the primary endpoint, 32.3% (95% CI 16.7 to 51.4; p=0.0006) of patients aged 12 years or older with Bardet-Biedl syndrome reached at least a 10% reduction in bodyweight after 52 weeks of setmelanotide. ...INTERPRETATION: Setmelanotide resulted in …
In terms of the primary endpoint, 32.3% (95% CI 16.7 to 51.4; p=0.0006) of patients aged 12 years or older with Bardet-Biedl …
Obesity in Childhood and Adolescence, Genetic Factors.
Kostovski M, Tasic V, Laban N, Polenakovic M, Danilovski D, Gucev Z. Kostovski M, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Dec 1;38(3):121-133. doi: 10.2478/prilozi-2018-0013. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017. PMID: 29668472 Free article.
We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome. A genetic screening for mutations in monogenic obesity in children with early, rapid-onset or severe obesity, severe hyperphagia, hypogonadism, intestinal d …
We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome. A genetic screen …
Kidney failure in Bardet-Biedl syndrome.
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM. Meyer JR, et al. Clin Genet. 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. Clin Genet. 2022. PMID: 35112343 Free PMC article.
The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene variants, demographics, and morbidity. ...
The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene var …
Diabetes mellitus in Bardet Biedl syndrome.
Pomeroy J, Offenwanger KM, Timmler T. Pomeroy J, et al. Curr Opin Endocrinol Diabetes Obes. 2023 Feb 1;30(1):27-31. doi: 10.1097/MED.0000000000000788. Epub 2022 Dec 8. Curr Opin Endocrinol Diabetes Obes. 2023. PMID: 36476576 Review.
PURPOSE OF REVIEW: Bardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. ...
PURPOSE OF REVIEW: Bardet Biedl syndrome (BBS) is a rare disease characterized by obesity and hyperphagia. ...
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management.
Priya S, Nampoothiri S, Sen P, Sripriya S. Priya S, et al. Indian J Ophthalmol. 2016 Sep;64(9):620-627. doi: 10.4103/0301-4738.194328. Indian J Ophthalmol. 2016. PMID: 27853007 Free PMC article. Review.
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one among them. The disorder is clinically and genetically heterogeneous, with various primary and secondary clinical manifestations, and shows …
Any defect in them leads to group of disorders called ciliopathies, and Bardet-Biedl syndrome (BBS, OMIM 209900) is one …
Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM. Pomeroy J, et al. Pediatr Obes. 2021 Feb;16(2):e12703. doi: 10.1111/ijpo.12703. Epub 2020 Jul 22. Pediatr Obes. 2021. PMID: 32700463 Free PMC article.
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. ...
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that severely inhibits primary cilia function. ...
Cystic kidney diseases in children.
De Groof J, Dachy A, Breysem L, Mekahli D. De Groof J, et al. Arch Pediatr. 2023 May;30(4):240-246. doi: 10.1016/j.arcped.2023.02.005. Epub 2023 Apr 14. Arch Pediatr. 2023. PMID: 37062654 Review.
255 results