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Quoted phrase not found in phrase index: "Retinal dystrophy and obesity"
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- …
Ciliopathy: Alström Syndrome.
Tsang SH, Aycinena ARP, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:179-180. doi: 10.1007/978-3-319-95046-4_35. Adv Exp Med Biol. 2018. PMID: 30578508 Review.
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. ...Obesity is a …
Alstrom syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 d …
Alström syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alstrom Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorin …
Alstrom Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown …
Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).
Solarat C, Valverde D. Solarat C, et al. Methods Cell Biol. 2023;176:125-137. doi: 10.1016/bs.mcb.2022.12.014. Epub 2023 Jan 9. Methods Cell Biol. 2023. PMID: 37164534
Bardet-Biedl syndrome (BBS) is a rare genetic disease of the group of ciliopathies, a group of pathologies characterized mainly by defects in the structure and/or function of primary cilia. The main features of this ciliopathy are retinal dystrophy, obesity, …
Bardet-Biedl syndrome (BBS) is a rare genetic disease of the group of ciliopathies, a group of pathologies characterized mainly by defects i …
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.
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. ...
The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity …
Bardet-Biedl syndrome: a case series.
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE. Elawad OAMA, et al. J Med Case Rep. 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. J Med Case Rep. 2022. PMID: 35484558 Free PMC article.
Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and le …
Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed wi …
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S, Focșa IO, Budișteanu M, Stoica C, Nedelea F, Bohîlțea L, Caba L, Butnariu L, Pânzaru M, Rusu C, Jurcă C, Chirita-Emandi A, Bănescu C, Abbas W, Sadeghpour A, Baig SM, Bălgrădean M, Davis EE. Khan S, et al. Am J Med Genet A. 2023 Sep;191(9):2376-2391. doi: 10.1002/ajmg.a.63322. Epub 2023 Jun 9. Am J Med Genet A. 2023. PMID: 37293956
BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, truncal obesity, polydactyly, cognitive impairment, renal dysfunction, and hypogonadism. ...
BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder characterized by retinal degeneration, trun …
Bardet-Biedl syndrome.
Hrynchak PK. Hrynchak PK. Optom Vis Sci. 2000 May;77(5):236-43. doi: 10.1097/00006324-200005000-00010. Optom Vis Sci. 2000. PMID: 10831213
Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. ...The most common feature of Bardet-Biedl syndrome is retinal dyst …
Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly po …
Bardet-Biedl syndrome.
Habibullah M, Mohiuddin AA. Habibullah M, et al. Mymensingh Med J. 2009 Jan;18(1):80-3. Mymensingh Med J. 2009. PMID: 19182756
Fundus examination revealed waxy disc atrophy, arteriolar attenuation and retinal degeneration both the eyes. He had polydactilism, trunkal obesity, hypogenitalism. ...
Fundus examination revealed waxy disc atrophy, arteriolar attenuation and retinal degeneration both the eyes. He had polydactilism, t …
Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes.
Zhong J, Xie Y, Ye H, Chen C, Sun T, Xu K, Zhang X, Li Y. Zhong J, et al. Eye (Lond). 2023 Nov;37(16):3398-3405. doi: 10.1038/s41433-023-02516-w. Epub 2023 Apr 8. Eye (Lond). 2023. PMID: 37031301
The patients exhibited clinical heterogeneity, from patients with all six primary clinical components to patients suffering from non-syndromic RP. The common components were retinal dystrophy, polydactyly, and obesity, with frequencies of 78.6% to 100%, while …
The patients exhibited clinical heterogeneity, from patients with all six primary clinical components to patients suffering from non-syndrom …
99 results