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2025

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1989 1
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1998 5
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2003 2
2004 1
2006 3
2007 3
2009 2
2010 3
2011 2
2012 3
2013 1
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51 results

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Page 1
The preauricular sinus: a review of its clinical presentation, treatment, and associations.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. Scheinfeld NS, et al. Pediatr Dermatol. 2004 May-Jun;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x. Pediatr Dermatol. 2004. PMID: 15165194 Review.
Preauricular sinuses are features of other conditions or syndromes in 3-10% of cases, primarily in association with deafness and branchio-oto-renal (BOR) syndrome. When other congenital anomalies coexist with these sinuses, auditory testing and renal u …
Preauricular sinuses are features of other conditions or syndromes in 3-10% of cases, primarily in association with deafness and branchio
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. ...
Branchio-oto-renal syndrome.
Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Kochhar A, et al. Am J Med Genet A. 2007 Jul 15;143A(14):1671-8. doi: 10.1002/ajmg.a.31561. Am J Med Genet A. 2007. PMID: 17238186 Review.
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch remnants, and renal anomalies is now recognized as one of the more common forms of autosomal dominant syndromic hearing impairment. ...However,
Branchio-oto-renal syndrome, a phenotype consisting of hearing loss, auricular malformations, branchial arch rem
From a branchial fistula to a branchiootorenal syndrome: a case report and review of the literature.
Senel E, Kocak H, Akbiyik F, Saylam G, Gulleroglu BN, Senel S. Senel E, et al. J Pediatr Surg. 2009 Mar;44(3):623-5. doi: 10.1016/j.jpedsurg.2008.10.034. J Pediatr Surg. 2009. PMID: 19302870 Review.
They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing impairment, and renal malformations. ...However, in patients with a branchial fistula associated with external ear anomalies on physical ex …
They may be a part of branchiootorenal (BOR) syndrome, which is characterized by branchial arch anomalies, preauricular pits, hearing …
Branchio-oto-renal syndrome.
Rodríguez Soriano J. Rodríguez Soriano J. J Nephrol. 2003 Jul-Aug;16(4):603-5. J Nephrol. 2003. PMID: 14696767 Review.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss and renal anomalies. Mutations in the EYA1 gene, a hum
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchia
Branchio-oto-renal syndrome.
Smith RJ, Schwartz C. Smith RJ, et al. J Commun Disord. 1998 Sep-Oct;31(5):411-20; quiz 421. doi: 10.1016/s0021-9924(98)00013-6. J Commun Disord. 1998. PMID: 9777487 Review.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifestations. ...
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial, otologic, and renal manifest
[Genetic deafness].
Marcolla A, Bouchetemble P, Lerosey Y, Marie JP, Dehesdin D. Marcolla A, et al. Ann Otolaryngol Chir Cervicofac. 2006 Jun;123(3):143-7. doi: 10.1016/s0003-438x(06)76655-5. Ann Otolaryngol Chir Cervicofac. 2006. PMID: 16840903 Review. French.
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, which associates congenital sensorineural deafness with goitre and malformations of the inner ear which can be identified on computed tomogr …
RESULTS: Genetic sensorineural syndromic deafness represents 30% of cases of genetic deafness. A frequent cause is Pendred syndrome, …
Kidney-ear axis.
Abbasi AH, Ramadan R, Hoffman A, Abassi Z. Abbasi AH, et al. Isr Med Assoc J. 2007 Nov;9(11):814-8. Isr Med Assoc J. 2007. PMID: 18085042 Free article. Review. No abstract available.
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.
Infants may be born with external ear deformities or malformations that can present a diagnostic clue to an affiliated syndrome while also presenting the possibility of surgical intervention. Microtia is a malformation of the ear that is associated with other craniofacial …
Infants may be born with external ear deformities or malformations that can present a diagnostic clue to an affiliated syndrome while …
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders.
Moody SA, Neilson KM, Kenyon KL, Alfandari D, Pignoni F. Moody SA, et al. Comp Biochem Physiol C Toxicol Pharmacol. 2015 Dec;178:16-24. doi: 10.1016/j.cbpc.2015.06.007. Epub 2015 Jun 24. Comp Biochem Physiol C Toxicol Pharmacol. 2015. PMID: 26117063 Free PMC article. Review.
We discuss the advantages of using this system for gene discovery in a human congenital hearing loss syndrome....
We discuss the advantages of using this system for gene discovery in a human congenital hearing loss syndrome....
51 results