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Page 1
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-axial polydact …
Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A. Shoemaker A. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:25-33. doi: 10.1111/dom.15494. Epub 2024 Feb 21. Diabetes Obes Metab. 2024. PMID: 38383825 Review.
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod-cone dystrophy. ...
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, de …
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: A focus on genetics, mechanisms and metabolic dysfunction.
Tomlinson JW. Tomlinson JW. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:13-24. doi: 10.1111/dom.15480. Epub 2024 Feb 1. Diabetes Obes Metab. 2024. PMID: 38302651 Review.
Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polydactyly, learning disabilities, as well as metabolic dysfunction, including obesity and an increased risk of type 2 diabetes. ...
Bardet-Biedl syndrome (BBS) is a rare, monogenic, multisystem disorder characterized by retinal dystrophy, renal abnormalities, polyd …
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E, Kenny J, Bacchelli C, Beales PL. Forsythe E, et al. Front Pediatr. 2018 Feb 13;6:23. doi: 10.3389/fped.2018.00023. eCollection 2018. Front Pediatr. 2018. PMID: 29487844 Free PMC article. Review.
Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. ...In this review, we provide an update on diagnostic developments, clinical features, and prog …
Bardet-Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that locali …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. ...This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl Syndrome, its mecha …
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. ...Th …
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Chattannavar G, Ger M, Balasubramanian J, Mandal S, Jalali S, Takkar B, Pisuchpen P, de Guimaraes TAC, Capasso JE, Kumar Padhy S, Levin AV. Chattannavar G, et al. Ophthalmic Genet. 2024 Dec;45(6):616-622. doi: 10.1080/13816810.2024.2411257. Epub 2024 Oct 15. Ophthalmic Genet. 2024. PMID: 39402987 Review.
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. ...METHODS: Here, we describe the phenotyp …
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas ch …
Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M. Gupta N, et al. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):9-19. doi: 10.1002/ajmg.c.31970. Epub 2022 Apr 4. Am J Med Genet C Semin Med Genet. 2022. PMID: 35373910 Free PMC article. Review.
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and BBS10 are responsible for major diagnosis in western countries. ...
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significant genetic heterogeneity, BBS1 and …
[Bardet-Biedl syndrome].
Rooryck C, Lacombe D. Rooryck C, et al. Ann Endocrinol (Paris). 2008 Dec;69(6):463-71. doi: 10.1016/j.ando.2008.10.001. Epub 2008 Nov 18. Ann Endocrinol (Paris). 2008. PMID: 19019343 Review. French.
Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175,000. ...
Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175, …
Bardet-Biedl syndrome: Is it only cilia dysfunction?
Novas R, Cardenas-Rodriguez M, Irigoín F, Badano JL. Novas R, et al. FEBS Lett. 2015 Nov 14;589(22):3479-91. doi: 10.1016/j.febslet.2015.07.031. Epub 2015 Jul 29. FEBS Lett. 2015. PMID: 26231314 Free article. Review.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset defects. ...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic disorder, characterized by both congenital and late onset def …
2,649 results