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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.
Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al. Vincent C, et al. Among authors: kalatzis v. Hum Mol Genet. 1994 Oct;3(10):1859-66. doi: 10.1093/hmg/3.10.1859. Hum Mol Genet. 1994. PMID: 7849713
A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.
Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Among authors: kalatzis v. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840
BOR and BO syndromes are allelic defects of EYA1.
Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C. Vincent C, et al. Among authors: kalatzis v. Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6. Eur J Hum Genet. 1997. PMID: 9359046
Branchio-otic syndromes imbroglio.
Kalatzis V, Petit C. Kalatzis V, et al. Am J Med Genet. 1999 Feb 19;82(5):440-1. Am J Med Genet. 1999. PMID: 10069718 No abstract available.
Branchio-Oto-Renal syndrome.
Kalatzis V, Petit C. Kalatzis V, et al. Adv Otorhinolaryngol. 2000;56:39-44. doi: 10.1159/000059081. Adv Otorhinolaryngol. 2000. PMID: 10868212 Review. No abstract available.
77 results