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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 18"
Page 1
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.
BACKGROUND: Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alstrom syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesi …
BACKGROUND: Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet …
Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial.
Feig DS, Sanchez JJ, Murphy KE, Asztalos E, Zinman B, Simmons D, Haqq AM, Fantus IG, Lipscombe L, Armson A, Barrett J, Donovan L, Karanicolas P, Tobin S, Mangoff K, Klein G, Jiang Y, Tomlinson G, Hamilton J; MiTy Kids Collaborative Group. Feig DS, et al. Lancet Diabetes Endocrinol. 2023 Mar;11(3):191-202. doi: 10.1016/S2213-8587(23)00004-9. Epub 2023 Feb 3. Lancet Diabetes Endocrinol. 2023. PMID: 36746160 Clinical Trial.
Anthropometric measurements, including weight, height, and skinfold thicknesses, were taken at 3, 6, 12, 18, and 24 months. At 24 months, linear regression was used to compare the BMI Z score and sum of skinfolds in the metformin versus placebo groups, adjusted for confoun …
Anthropometric measurements, including weight, height, and skinfold thicknesses, were taken at 3, 6, 12, 18, and 24 months. At 24 mon …
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. ...It is well established that eight BBS proteins, namely BBS1, 2, 4, 5, 7, 8, 9, and 18, form the BBSome, a multiprotein complex serving as a regulator of ciliary membra …
Bardet-Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. ...It is well established that eight …
Hyperphagia among patients with Bardet-Biedl syndrome.
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA. Sherafat-Kazemzadeh R, et al. Pediatr Obes. 2013 Oct;8(5):e64-7. doi: 10.1111/j.2047-6310.2013.00182.x. Epub 2013 Jun 18. Pediatr Obes. 2013. PMID: 23776152 Free PMC article.
BACKGROUND: The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) has not been established. We therefore compared hyperphagic symptoms in patients with BBS vs. controls. ...
BACKGROUND: The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) ha …
Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A. Simonini C, et al. Arch Gynecol Obstet. 2022 Jul;306(1):71-83. doi: 10.1007/s00404-021-06265-7. Epub 2021 Oct 1. Arch Gynecol Obstet. 2022. PMID: 34596737 Free PMC article.
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, 52.8%), followed by disorders that belong to the group of short-rib thoracic dysplasia (SRTD, n = 10/36, 27.8%) McKusick-Kaufmann syndro …
RESULTS: 36 cases of multisystem ciliopathies were diagnosed. Meckel-Gruber syndrome (MKS) was the most common ciliopathy (n = 19/36, …
Renal transplantation in Bardet-Biedl Syndrome.
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA. Haws RM, et al. Pediatr Nephrol. 2016 Nov;31(11):2153-61. doi: 10.1007/s00467-016-3415-4. Epub 2016 Jun 1. Pediatr Nephrol. 2016. PMID: 27245600
BACKGROUND: Renal anomalies are common in patients with Bardet-Biedl syndrome (BBS), a renal cystic ciliopathy with multi-systemic features. ...Although the frequency of obesity and other manifestations of the metabolic syndrome warrant meticulous mana …
BACKGROUND: Renal anomalies are common in patients with Bardet-Biedl syndrome (BBS), a renal cystic ciliopathy with mul …
Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome.
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM. Pomeroy J, et al. Orphanet J Rare Dis. 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. Orphanet J Rare Dis. 2021. PMID: 34127036 Free PMC article.
BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physical activity are behaviors that might impact overweight and obesity and thus may play a key role in the health and well-being of people with …
BACKGROUND: Overweight and obesity are common features of the rare disease Bardet-Biedl syndrome (BBS). Sleep and physi …
Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome in India: Electronic medical records driven big data analytics: Report II.
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S. Parameswarappa DC, et al. Indian J Ophthalmol. 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. Indian J Ophthalmol. 2022. PMID: 35791150 Free PMC article.
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-Biedl (LMBB) syndrome patients. METHODS: This is a cross-sectional observational hospital-based study wherein 244 patients with RP …
PURPOSE: To describe the clinical presentation and demographic distribution of retinitis pigmentosa (RP) in Laurence-Moon-Bardet-B …
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, Mohammed S, Tomlinson JW, Amiel SA, Carroll PV, Beales PL, Huda MSB, McGowan BM. Mujahid S, et al. J Clin Endocrinol Metab. 2018 May 1;103(5):1834-1841. doi: 10.1210/jc.2017-01459. J Clin Endocrinol Metab. 2018. PMID: 29409041
CONTEXT: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described obesity and a metabolic syndrome. ...MAIN OUTCOME MEASUREMENTS: Our study determined the prevalence of a metabolic syndrome in o …
CONTEXT: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder in which previous reports have described ob …
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Beales PL, et al. J Med Genet. 1997 Feb;34(2):92-8. doi: 10.1136/jmg.34.2.92. J Med Genet. 1997. PMID: 9039982 Free PMC article.
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental retardation, hypogenitalism, renal dysplasia, and short stature. ...Twenty eight percent of pedigrees did not show linkage to any kno …
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, …
35 results