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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 14"
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 …
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.
Li MH, Chen IC, Yang HW, Yen HC, Huang YC, Hsu CC, Chen YM, Ke YY. Li MH, et al. Int J Med Sci. 2024 Feb 25;21(5):784-794. doi: 10.7150/ijms.92766. eCollection 2024. Int J Med Sci. 2024. PMID: 38617006 Free PMC article.
Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities. ...To gain a m …
Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dyst …
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 …
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L. Cai M, et al. Exp Biol Med (Maywood). 2023 May;248(10):858-865. doi: 10.1177/15353702231164933. Epub 2023 May 19. Exp Biol Med (Maywood). 2023. PMID: 37208928 Free PMC article.
However, CMA detected 15 abnormal copy number variations (CNVs) (14 pathogenic CNVs, and one variant of unknown significance [VUS] CNVs), in addition to four cases that were consistent with the results of karyotype analysis. ...Of the 89 MCDK fetuses with normal karyotype …
However, CMA detected 15 abnormal copy number variations (CNVs) (14 pathogenic CNVs, and one variant of unknown significance [VUS] CN …
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 …
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B. Imhoff O, et al. Clin J Am Soc Nephrol. 2011 Jan;6(1):22-9. doi: 10.2215/CJN.03320410. Epub 2010 Sep 28. Clin J Am Soc Nephrol. 2011. PMID: 20876674 Free PMC article.
BACKGROUND AND OBJECTIVES: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of clinical features including obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal abnormalities. The mole …
BACKGROUND AND OBJECTIVES: Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy with a wide spectrum of …
Syndromic ciliopathy: a taiwanese single-center study.
Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC. Pan YW, et al. BMC Med Genomics. 2024 Apr 26;17(1):106. doi: 10.1186/s12920-024-01880-0. BMC Med Genomics. 2024. PMID: 38671463 Free PMC article.
Clinical information was collected at the time of patient enrollment. RESULTS: A total of 14 cases were molecularly diagnosed with syndromic ciliopathy. Among these cases, 10 had Bardet-Biedl syndrome (BBS), comprising eight BBS2 patients and two BBS7 …
Clinical information was collected at the time of patient enrollment. RESULTS: A total of 14 cases were molecularly diagnosed with sy …
Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders.
Gantz MG, Driscoll DJ, Miller JL, Duis JB, Butler MG, Gourash L, Forster J, Scheimann AO. Gantz MG, et al. Obesity (Silver Spring). 2022 May;30(5):973-981. doi: 10.1002/oby.23385. Epub 2022 Apr 13. Obesity (Silver Spring). 2022. PMID: 35416416 Review.
OBJECTIVE: The aim of this study was to review bariatric procedure outcomes among patients with Prader-Willi syndrome (PWS), melanocortin 4 receptor (MC4R) mutations, Bardet-Biedl syndrome, and hypothalamic obesity. METHODS: Systematic published litera …
OBJECTIVE: The aim of this study was to review bariatric procedure outcomes among patients with Prader-Willi syndrome (PWS), melanoco …
Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome.
Borrelli P, Zacchia M, Cavaliere C, Basso L, Salvatore M, Capasso G, Aiello M. Borrelli P, et al. Sci Rep. 2021 Oct 21;11(1):20855. doi: 10.1038/s41598-021-00394-4. Sci Rep. 2021. PMID: 34675323 Free PMC article.
Kidney structural abnormalities are common features of Bardet-Biedl syndrome (BBS) patients that lead to a progressive decline in renal function. ...Ten BBS subjects with estimated glomerular filtration rates over 60 ml/min/1.73m(2) and 14 individuals …
Kidney structural abnormalities are common features of Bardet-Biedl syndrome (BBS) patients that lead to a progressive …
Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass.
Birk RZ, Ermakov S, Livshits G. Birk RZ, et al. Obesity (Silver Spring). 2013 Aug;21(8):1684-9. doi: 10.1002/oby.20056. Epub 2013 May 17. Obesity (Silver Spring). 2013. PMID: 23404957 Free article.
OBJECTIVE: Bardet-Biedl syndrome (BBS) is a rare monogenic multi-systemic disorder manifesting with marked obesity. ...The purpose was to Investigate the association between common polymorphisms in all 14 genes as a group and body weight. DESIGN AND ME …
OBJECTIVE: Bardet-Biedl syndrome (BBS) is a rare monogenic multi-systemic disorder manifesting with marked obesity. ... …
42 results