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2014 6
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47 results

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Page 1
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.
Pao J, D'Arco F, Clement E, Picariello S, Moonis G, Robson CD, Juliano AF. Pao J, et al. AJNR Am J Neuroradiol. 2022 Feb;43(2):309-314. doi: 10.3174/ajnr.A7396. Epub 2022 Jan 20. AJNR Am J Neuroradiol. 2022. PMID: 35058298 Free PMC article.
BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound or offset cochlea is a highly characteristic marker for branchio-oto- …
BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the work-up of branchio-oto-renal syndrome …
Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome.
Chen A, Ling J, Feng Y. Chen A, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jan 28;47(1):129-138. doi: 10.11817/j.issn.1672-7347.2022.210251. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 35545373 Free PMC article. Chinese, English.
Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous disorder. ...However, the role of SIX5 gene in the pathogenesis of BORS needs further verification. Branchio-oto syndrome (BOS)/branchio …
Branchio-oto syndrome (BOS)/branchio-oto-renal syndrome (BORS) is a kind of autosomal dominant heterogeneous dis …
Syndromic Hearing Loss in Children.
Lewis M, Robson CD, D'Arco F. Lewis M, et al. Neuroimaging Clin N Am. 2023 Nov;33(4):563-580. doi: 10.1016/j.nic.2023.05.007. Epub 2023 Jul 4. Neuroimaging Clin N Am. 2023. PMID: 37741658 Review.
Microtia and Related Facial Anomalies.
Hartzell LD, Chinnadurai S. Hartzell LD, et al. Clin Perinatol. 2018 Dec;45(4):679-697. doi: 10.1016/j.clp.2018.07.007. Epub 2018 Sep 18. Clin Perinatol. 2018. PMID: 30396412 Review.
Branchiootorenal and branchiooculofacial syndrome.
Ječmenica J, Bajec-Opančina A. Ječmenica J, et al. J Craniofac Surg. 2015 Jan;26(1):e30-1. doi: 10.1097/SCS.0000000000001268. J Craniofac Surg. 2015. PMID: 25569411
INTRODUCTION: Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchiooculofacial syndrome (BOF), with incomplete penetrance and variable expression. ...
INTRODUCTION: Branchiootorenal syndrome (BOR) is an autosomal dominant disorder. One of very similar syndromes is branchioocul …
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.
Juliano AF, D'Arco F, Pao J, Picariello S, Clement E, Moonis G, Robson CD. Juliano AF, et al. AJNR Am J Neuroradiol. 2022 Nov;43(11):1646-1652. doi: 10.3174/ajnr.A7653. Epub 2022 Sep 29. AJNR Am J Neuroradiol. 2022. PMID: 36175083 Free PMC article.
CONCLUSIONS: There is a statistically significant difference in turn alignment ratios between offset and nonoffset cochleae, with an optimal cutoff of 0.476. This cutoff value allows excellent separation of EYA1-branchio-oto-renal syndrome from SIX1- …
CONCLUSIONS: There is a statistically significant difference in turn alignment ratios between offset and nonoffset cochleae, with an optimal …
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C. Chen A, et al. Clin Genet. 2021 Jul;100(1):3-13. doi: 10.1111/cge.13949. Epub 2021 Mar 21. Clin Genet. 2021. PMID: 33624842
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It comprises branchiootorenal syndrome and branchiootic syndrome, distinguished by the pres …
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities characterized by branchiogenic malformations, hear …
Cochlear implantation in Branchiootorenal syndrome - case report and review of the literature.
Tian L, West N, Cayé-Thomasen P. Tian L, et al. Cochlear Implants Int. 2022 Jan;23(1):52-57. doi: 10.1080/14670100.2021.1973209. Epub 2021 Sep 9. Cochlear Implants Int. 2022. PMID: 34498539 Review.
INTRODUCTION: Branchiootorenal syndrome (BOR) manifests with branchial fistulae, otological anomalies and renal dysplasia. ...
INTRODUCTION: Branchiootorenal syndrome (BOR) manifests with branchial fistulae, otological anomalies and renal dysplasia. ...
Novel EYA1 variants causing Branchio-oto-renal syndrome.
Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S, Maroofian R, Carrera-Gonzalez A, Montufar-Armendariz S, Paredes R, Elcioglu N, Menendez I, Behnam M, Foster J 2nd, Guo S, Escarfuller S, Cengiz FB, Duman D, Bademci G, Tekin M. Klingbeil KD, et al. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:59-63. doi: 10.1016/j.ijporl.2017.04.037. Epub 2017 Apr 26. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28583505 Free PMC article.
47 results