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2025

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1987 1
1989 1
1991 1
1994 1
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1998 5
1999 1
2000 2
2001 3
2003 2
2004 1
2006 3
2007 3
2009 2
2010 3
2011 2
2012 3
2013 1
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2018 4
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55 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
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
A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review.
Luo F, Lu M, Zhao L, Zhou P. Luo F, et al. Medicine (Baltimore). 2023 Nov 3;102(44):e34962. doi: 10.1097/MD.0000000000034962. Medicine (Baltimore). 2023. PMID: 37932997 Free PMC article. Review.
RATIONALE: Branchiooculofacial syndrome (BOFS) is a rare autosomal dominant disorder with a diverse clinical phenotype. ...
RATIONALE: Branchiooculofacial syndrome (BOFS) is a rare autosomal dominant disorder with a diverse clinical phenotype. ...
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.
Toward an orofacial gene regulatory network.
Kousa YA, Schutte BC. Kousa YA, et al. Dev Dyn. 2016 Mar;245(3):220-32. doi: 10.1002/dvdy.24341. Epub 2015 Sep 17. Dev Dyn. 2016. PMID: 26332872 Free PMC article. Review.
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 live births). ...Like IRF6 and GRHL3, rare variants in TFAP2A can also lead to syndromic orofacial clefting with lip pits (branchio-oculo-faci …
Rare variants in IRF6 can lead to Van der Woude syndrome (1/35,000 live births) and popliteal pterygium syndrome (1/300,000 li …
The branchio-oculo-facial syndrome.
Lin AE, Losken HW, Jaffe R, Biglan AW. Lin AE, et al. Cleft Palate Craniofac J. 1991 Jan;28(1):96-102. doi: 10.1597/1545-1569_1991_028_0096_tbofs_2.3.co_2. Cleft Palate Craniofac J. 1991. PMID: 2004100 Review.
We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delineated autosomal dominant disorder with highly variable expression. ...
We review 13 reported cases and add the evaluations of 2 new patients with the branchio-oculo-facial (BOF) syndrome, a recently delin …
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 …
55 results