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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 17"
Page 1
Sleep disordered breathing in Bardet-Biedl Syndrome.
Yeung JC, Katwa UA, Lee GS. Yeung JC, et al. Int J Pediatr Otorhinolaryngol. 2017 Nov;102:127-132. doi: 10.1016/j.ijporl.2017.09.004. Epub 2017 Sep 12. Int J Pediatr Otorhinolaryngol. 2017. PMID: 29106859
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining characteristics. ...Eighteen of twenty patients had symptoms of sleep-disordered breathing. Median follow-up duration was 17.5 months. A w …
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining chara …
Cystic kidney disease: a primer.
Cramer MT, Guay-Woodford LM. Cramer MT, et al. Adv Chronic Kidney Dis. 2015 Jul;22(4):297-305. doi: 10.1053/j.ackd.2015.04.001. Adv Chronic Kidney Dis. 2015. PMID: 26088074 Review.
For example, solitary kidney cysts may be completely benign when they develop during adulthood but may represent early polycystic kidney disease when observed during childhood. In this review, we have categorized renal cystic disease according to inherited single-gene diso …
For example, solitary kidney cysts may be completely benign when they develop during adulthood but may represent early polycystic kidney dis …
Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey.
Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, Hagopian E, Pomeroy J, Haqq AM. Forsythe E, et al. Orphanet J Rare Dis. 2023 Jul 7;18(1):182. doi: 10.1186/s13023-023-02723-4. Orphanet J Rare Dis. 2023. PMID: 37415189 Free PMC article.
BACKGROUND: Signs and symptoms of Bardet-Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. ...Responses from the IWQOL-Kids Parent Proxy suggested obesity most g …
BACKGROUND: Signs and symptoms of Bardet-Biedl syndrome (BBS) occur during early childhood, progress over time, and pla …
Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study.
Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, Hagopian E, Pomeroy J, Haqq AM. Forsythe E, et al. Orphanet J Rare Dis. 2023 Jul 7;18(1):181. doi: 10.1186/s13023-023-02692-8. Orphanet J Rare Dis. 2023. PMID: 37415214 Free PMC article.
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. ...Caregivers reported experiencing a high level of personal strain (mean [SD], 17.1 [2.9]) and family impact (mean [SD] …
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hy …
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
Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. ...Following informed consent, we performed proband exome sequencing (ES). We detected 17 different putative …
Bardet-Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive …
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. ...RESULTS: Total hyperphagia question …
BACKGROUND: The importance of hyperphagia as a cause for energy imbalance in humans with Bardet-Biedl syndrome (BBS) ha …
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O. Niederlova V, et al. Hum Mutat. 2019 Nov;40(11):2068-2087. doi: 10.1002/humu.23862. Epub 2019 Jul 29. Hum Mutat. 2019. PMID: 31283077
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...The analysis revealed that the identity of the causative gene and the character of the mutation partially predict the clinical outcome of the disease. Besid …
Bardet-Biedl syndrome (BBS) is a recessive genetic disease causing multiple organ anomalies. ...The analysis revealed t …
Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.
Horiuchi K, Kogiso T, Sagawa T, Ito T, Taniai M, Miura K, Hattori M, Morisada N, Hashimoto E, Tokushige K. Horiuchi K, et al. Intern Med. 2020;59(21):2719-2724. doi: 10.2169/internalmedicine.5045-20. Epub 2020 Nov 1. Intern Med. 2020. PMID: 33132306 Free PMC article.
In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bardet-Biedl syndrome (BBS). Skipping of exons 14 and 17 in the sodium channel and clathrin linker 1 (SCLT1) g …
In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed wit …
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, …
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.
Tayeh MK, Yen HJ, Beck JS, Searby CC, Westfall TA, Griesbach H, Sheffield VC, Slusarski DC. Tayeh MK, et al. Hum Mol Genet. 2008 Jul 1;17(13):1956-67. doi: 10.1093/hmg/ddn093. Epub 2008 Apr 1. Hum Mol Genet. 2008. PMID: 18381349 Free PMC article.
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, as well as hypertension and diabetes. ...Human polydactyly is a cardinal fe …
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by obesity, retinopathy, …
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