A-F     G-L     M-R     S-Z

A

 Abdelhak, S., V. Kalatzis, et al. (1997). "Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1." Hum Mol Genet 6(13): 2247-55.[PubMed]

Abdelhak, S., V. Kalatzis, et al. (1997). "A human homologue of the Drosophila eyes absent gene underlies branchio- oto-renal (BOR) syndrome and identifies a novel gene family." Nat Genet 15(2): 157-64.[PubMed]

Antonarakis, S. E. (1998). "Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group." Hum Mutat 11(1): 1-3.[PubMed]

Azuma, N., A. Hirakiyama, et al. (2000). "Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies." Hum Mol Genet 9(3): 363-6.[PubMed]

B

Bonini, N. M., W. M. Leiserson, et al. (1993). "The eyes absent gene: genetic control of cell survival and differentiation in the developing Drosophila eye." Cell 72(3): 379-95.[PubMed]

C

Chen, A., M. Francis, et al. (1995). "Phenotypic manifestations of branchio-oto-renal syndrome." Am J Med Genet 58(4): 365-70.[PubMed]

Clarke J, Honey E, Bekker E, Snyman L, Raymond R, Jr., Lord C, Brophy P. 2006. A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. Clin Genet 70:63-67. [PubMed]

D

den Dunnen, J. T. and S. E. Antonarakis (2000). "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion." Hum Mutat 15(1): 7-12.[PubMed]

F

Fraser, F. C., S. Ayme, et al. (1983). "Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?" Am J Med Genet 14(3): 473-8.[PubMed]

Fraser, F. C., D. Ling, et al. (1978). "Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies." Am J Med Genet 2(3): 241-52.[PubMed]

Fraser, F. C., J. R. Sproule, et al. (1980). "Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss." Am J Med Genet 7(3): 341-9.[PubMed]

Fukuda, S., T. Kuroda, et al. (2001). "A family affected by branchio-oto syndrome with EYA1 mutations." Auris Nasus Larynx 28 Suppl: S7-11.[PubMed]

H

Haan, E. A., Y. J. Hull, et al. (1989). "Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q." Am J Med Genet 32(4): 490-4.[PubMed]

Heimler, A. and E. Lieber (1986). "Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred." Am J Med Genet 25(1): 15-27.[PubMed]

 K

Konig, R., S. Fuchs, et al. (1994). "Branchio-oto-renal (BOR) syndrome: variable expressivity in a five- generation pedigree." Eur J Pediatr 153(6): 446-50.[PubMed]

Kumar, S., K. Deffenbacher, et al. (1997). "Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing." Genet Test 1(4): 243-51.[PubMed]

Kumar, S., W. J. Kimberling, et al. (1998). "Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome." Hum Mutat 11(6): 443-9.[PubMed]

Kumar, S., H. A. Marres, et al. (1998). "Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13." Am J Med Genet 76(5): 395-401.[PubMed]

L

Lee, KY et al. (2007).  "Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family" Int J Pediatr Otorhinolaryngol.  71(1):169-74 (2007)  [PubMed]

Lin, A. E., R. J. Gorlin, et al. (1995). "Further delineation of the branchio-oculo-facial syndrome." Am J Med Genet 56(1): 42-59.[PubMed]

Lin, A. E., E. V. Semina, et al. (2000). "Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome." Am J Med Genet 91(5): 387-90.[PubMed]

M

McCool, M. and D. D. Weaver (1994). "Branchio-oculo-facial syndrome: broadening the spectrum." Am J Med Genet 49(4): 414-21.[PubMed]

Melnick, M., D. Bixler, et al. (1976). "Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes." Clin Genet 9(1): 25-34.[PubMed]

Melnick, M., D. Bixler, et al. (1975). "Autosomal dominant branchiootorenal dysplasia." Birth Defects Orig Artic Ser 11(5): 121-8.[PubMed]

 R

Rickard, S., M. Boxer, et al. (2000). "Importance of clinical evaluation and molecular testing in the branchio- oto-renal (BOR) syndrome and overlapping phenotypes." J Med Genet 37(8): 623-7.[PubMed]

Rickard, S., M. Parker, et al. (2001). "Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM." Hum Genet 108(5): 398-403.[PubMed]

Rodriguez-Soriano, J., A. Vallo, et al. (2001). "Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene." Pediatr Nephrol 16(7): 550-3.[PubMed]

S

Stratakis, C. A., J. P. Lin, et al. (1998). "Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)." Am J Med Genet 79(3): 209-14.[PubMed]

U

Usami, S., S. Abe, et al. (1999). "EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family." J Hum Genet 44(4): 261-5.[PubMed]

V

Vervoort, V. S., R. J. Smith, et al. (2002). "Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome." Eur J Hum Genet 10(11): 757-66.[PubMed]

Vincent, C., V. Kalatzis, et al. (1997). "BOR and BO syndromes are allelic defects of EYA1." Eur J Hum Genet 5(4): 242-6.[PubMed]

Vincent, C., V. Kalatzis, et al. (1994). "A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene." Hum Mol Genet 3(10): 1859-66.[PubMed]