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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 15"
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.
Patients aged 6 years or older were included if they had a clinical diagnosis of Bardet-Biedl syndrome or Alstrom syndrome and obesity (defined as BMI >97th percentile for age and sex for those aged 6-15 years and 30 kg/m(2) for those aged 16 …
Patients aged 6 years or older were included if they had a clinical diagnosis of Bardet-Biedl syndrome or Alstrom sy …
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. ...Diverse uropathies were identified, but were not more common in the KF group (p = 0.672). Kidney fail …
The aim of this study was to explore kidney failure (KF) in Bardet-Biedl syndrome (BBS), focusing on high-risk gene var …
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.
Karyotype analysis of 108 MCDK fetuses showed an abnormal karyotype in 4 (3.7%, 4/108) of the fetuses. 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 w …
Karyotype analysis of 108 MCDK fetuses showed an abnormal karyotype in 4 (3.7%, 4/108) of the fetuses. However, CMA detected 15 abnor …
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 …
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 in South Africa: A single founder mutation.
Fieggen K, Milligan C, Henderson B, Esterhuizen AI. Fieggen K, et al. S Afr Med J. 2016 May 25;106(6 Suppl 1):S72-4. doi: 10.7196/SAMJ.2016.v106i6.11000. S Afr Med J. 2016. PMID: 27245532
BACKGROUND: Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual disability and loss of vision due to a progressive retinopathy. ...This is in keeping with the observation that BBS is more common in this et …
BACKGROUND: Bardet Biedl syndrome (BBS) is a multisystem disorder characterised by obesity, polydactyly, intellectual d …
Visual acuity and retinal function in patients with Bardet-Biedl syndrome.
Berezovsky A, Rocha DM, Sacai PY, Watanabe SS, Cavascan NN, Salomão SR. Berezovsky A, et al. Clinics (Sao Paulo). 2012;67(2):145-9. doi: 10.6061/clinics/2012(02)09. Clinics (Sao Paulo). 2012. PMID: 22358239 Free PMC article.
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. ...The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl sy …
OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. ...The purpos …
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, …
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model.
Mayer SK, Thomas J, Helms M, Kothapalli A, Cherascu I, Salesevic A, Stalter E, Wang K, Datta P, Searby C, Seo S, Hsu Y, Bhattarai S, Sheffield VC, Drack AV. Mayer SK, et al. Dis Model Mech. 2022 Sep 1;15(9):dmm049473. doi: 10.1242/dmm.049473. Epub 2022 Sep 20. Dis Model Mech. 2022. PMID: 36125046 Free PMC article.
Bardet-Biedl syndrome (BBS) is a multi-organ autosomal-recessive disorder caused by mutations in at least 22 different genes. ...
Bardet-Biedl syndrome (BBS) is a multi-organ autosomal-recessive disorder caused by mutations in at least 22 different …
Searching for Effective Methods of Diagnosing Nervous System Lesions in Patients with Alstrom and Bardet-Biedl Syndromes.
Waszczykowska A, Jeziorny K, Barańska D, Matera K, Pyziak-Skupien A, Ciborowski M, Zmysłowska A. Waszczykowska A, et al. Genes (Basel). 2023 Sep 10;14(9):1784. doi: 10.3390/genes14091784. Genes (Basel). 2023. PMID: 37761924 Free PMC article.
Bardet-Biedl syndrome (BBS) and Alstrom syndrome (ALMS) are rare multisystem diseases with an autosomal recessive mode of inheritance and genetic heterogeneity, characterized by visual impairment, hearing impairment, cardiomyopathy, childhood obesity, …
Bardet-Biedl syndrome (BBS) and Alstrom syndrome (ALMS) are rare multisystem diseases with an autosomal recessiv …
40 results