Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome

Genomics

Volumn 34, Issue 3, 1996, Pages 422-425

  Kalatzis, Vasiliki ^a   Abdelhak, Sonia ^a   Compain, Sylvie ^a   Vincent, Christophe ^a   Petit, Christine ^a  

^a CNRS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BRANCHIAL DEFECT; CASE REPORT; CHROMOSOME 8Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; DUANE RETRACTION SYNDROME; EAR DISEASE; HUMAN; KIDNEY DISEASE; PRIORITY JOURNAL; SYNDROME; YEAST ARTIFICIAL CHROMOSOME;

EID: 0030585742     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0307     Document Type: Article

References (11)

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2. 2. Fraser, F. C., Sproule, J. R., and Hatal, F. (1980). Frequency of the Branchio-Oto-Renal (BOR) Syndrome in children with profound hearing loss. Am. J. Med. Genet. 7: 341-349.
3. 3. Haan, E. A., Hull, Y. J., White, S., Cockington, R., Charlton, P., and Callen, D. F. (1989). Tricho-Rhino-Phalangeal and Branchio-Oto Syndromes in a family with an inherited rearrangement of chromosome 8q. Am. J. Med. Genet. 32: 490-494.
4. 4. Heimler, A., and Lieber, E. (1986). Branchio-Oto-Renal Syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred. Am. J. Med. Genet. 25: 15-27.
5. 5. Kere, J., Nagaraja, R., Mumm, S., Ciccodicola, A., D'Urso, M., and Schlessinger, D. (1992). Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts. Genomics 14: 241-248.
6. 6. Melnick, M., Bixler, D., Silk, K., Yune, H., and Nance, W. E. (1975). Autosomal dominant branchio-oto-renal dysplasia. Birth Defects 11: 121-128.
7. 7. Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., and Sweeney, A. (1978). Branchio-oto-renal dysplasia and branchiooto dysplasia: Two distinct autosomal dominant disorders. Clin. Genet. 13: 425-442.
8. 8. Nelson, D. (1991). Interspersed repetitive sequence polymerase chain reaction (IRS PCR) for generation of human DNA fragments from complex sources. Methods Enzymol. 2: 60-74.
9. 9. Nelson, D. L., Ballabio, A., Victoria, M. F., Pieretti, M., Bies, R. D., Gibbs, R. A., Malley, J. A., Chinault, A. C., Webster, T. D., and Caskey, C. T. (1991). Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: Identification of clones associated with a disease locus. Proc. Natl. Acad. Sci. USA 88: 6157-6161.
10. 10. Rollnick, B. R., and Kaye, C. I. (1987). Letter to the Editor: Branchio-Oto-Renal Syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred. Am. J. Med. Genet. 27: 233.
11. 11. Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., Pereira, M. d. L., Nivelon, A., Croquette, M. F., Lacombe, D., Vigneron, J., Helias, J., Broyer, M., Callen, D. F., Haan, E. A., Weissenbach, J., Lacroix, B., Bellané-Chantelot, C., Le Paslier, D. L., Cohen, D., and Petit, C. (1994). A proposed new contiguous syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapese aplasia; implications for the mapping of the BOR gene. Hum. Mol. Genet. 3: 1859-1866.