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Quoted phrase not found in phrase index: "Bardet-Biedl syndrome 17"
Page 1
Recent advances in the molecular diagnosis of polycystic kidney disease.
Bergmann C. Bergmann C. Expert Rev Mol Diagn. 2017 Dec;17(12):1037-1054. doi: 10.1080/14737159.2017.1386099. Epub 2017 Nov 16. Expert Rev Mol Diagn. 2017. PMID: 28952822 Review.
Areas covered: A reduced dosage of disease proteins disturbs cell homeostasis and explains a more severe clinical course in some PKD patients. Cystic kidney disease is also a common feature of other ciliopathies and genetic syndromes. Genetic diagnosis may guide clinical m …
Areas covered: A reduced dosage of disease proteins disturbs cell homeostasis and explains a more severe clinical course in some PKD …
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. ...
INTRODUCTION: Bardet-Biedl Syndrome (BBS) is an autosomal recessive ciliopathy, and obesity is among its defining chara …
Renal features of Bardet Biedl syndrome: A single center experience.
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A. Atmış B, et al. Turk J Pediatr. 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. Turk J Pediatr. 2019. PMID: 31951329 Free article.
Atmis B, Karabay-Bayazit A, Melek E, Bisgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center experience. Turk J Pediatr 2019; 61: 186-192. Bardet Biedl syndrome (BBS), is a multisystemic disorder which is described as …
Atmis B, Karabay-Bayazit A, Melek E, Bisgin A, Anarat A. Renal features of Bardet Biedl syndrome: A single center exper …
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 …
Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.
Tang R, Yu Q. Tang R, et al. J Assist Reprod Genet. 2020 Oct;37(10):2487-2502. doi: 10.1007/s10815-020-01919-y. Epub 2020 Aug 13. J Assist Reprod Genet. 2020. PMID: 32789750 Free PMC article.
Monoacylglycerol O-acyltransferase 1 mutations were found in six patients, and cytochrome P450 family 26 subfamily B member 1 and Bardet-Biedl syndrome 9 mutations were each found in four patients. ...WES and in silico analyses may be a useful clinical tool f …
Monoacylglycerol O-acyltransferase 1 mutations were found in six patients, and cytochrome P450 family 26 subfamily B member 1 and Bardet …
Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.
Hjortshøj TD, Grønskov K, Rosenberg T, Brøndum-Nielsen K, Olsen JH. Hjortshøj TD, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1699-702. doi: 10.1002/ajmg.a.31805. Am J Med Genet A. 2007. PMID: 17587209
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease with retinal dystrophy leading to blindness, postaxial polydactyly, truncal obesity, learning disabilities, male hypogenitalism, and renal anomalies. ...
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease with retinal dystrophy leading to blindness, postaxi …
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
Ziegler WH, Lüdiger S, Hassan F, Georgiadis ME, Swolana K, Khera A, Mertens A, Franke D, Wohlgemuth K, Dahmer-Heath M, König J, Dafinger C, Liebau MC, Cetiner M, Bergmann C, Soetje B, Haffner D. Ziegler WH, et al. Orphanet J Rare Dis. 2022 Mar 9;17(1):122. doi: 10.1186/s13023-022-02265-1. Orphanet J Rare Dis. 2022. PMID: 35264234 Free PMC article.
Consequences of individual gene variants on epithelial function are often difficult to predict and can furthermore depend on the patient's genetic background. Here, we studied urine-derived renal tubular epithelial cells (URECs) from genetically determined, pediatric cohor …
Consequences of individual gene variants on epithelial function are often difficult to predict and can furthermore depend on the pati …
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.
Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Woods MO, et al. Genomics. 1999 Jan 1;55(1):2-9. doi: 10.1006/geno.1998.5626. Genomics. 1999. PMID: 9888993
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease characterized by retinal dystrophy, renal structural abnormalities, obesity, dysmorphic extremities, and hypogenitalism in males. ...
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease characterized by retinal dystrophy, renal structural …
BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche.
Barba M, Di Pietro L, Massimi L, Geloso MC, Frassanito P, Caldarelli M, Michetti F, Della Longa S, Romitti PA, Di Rocco C, Arcovito A, Parolini O, Tamburrini G, Bernardini C, Boyadjiev SA, Lattanzi W. Barba M, et al. Bone. 2018 Jul;112:58-70. doi: 10.1016/j.bone.2018.04.013. Epub 2018 Apr 17. Bone. 2018. PMID: 29674126 Free PMC article.
Cells from fused sutures displayed a reduced potential to form primary cilia compared to cells from control patent sutures of the same patient. We identified specific upregulated splice variants of the Bardet Biedl syndrome-associated gene 9 (BBS9), which enc …
Cells from fused sutures displayed a reduced potential to form primary cilia compared to cells from control patent sutures of the same patie …
Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome.
Zaldivar RA, Neale MD, Evans WE, Pulido JS. Zaldivar RA, et al. Ophthalmic Genet. 2008 Mar;29(1):33-5. doi: 10.1080/13816810701762642. Ophthalmic Genet. 2008. PMID: 18363171
Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic abnormalities, Bardet-Biedl syndrome is a form of retinitis pigmentosa that has characteristic non-ocular findings includ …
Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic ab …
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