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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef T, Ness SL, Madeo AC, Bar-Lev A, Wolfman JH, Ahmed ZM, Desnick RJ, Willner JP, Avraham KB, Ostrer H, Oddoux C, Griffith AJ, Friedman TB. Ben-Yosef T, et al. Among authors: oddoux c. N Engl J Med. 2003 Apr 24;348(17):1664-70. doi: 10.1056/NEJMoa021502. N Engl J Med. 2003. PMID: 12711741 Free article. No abstract available.
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Kurima K, et al. Among authors: oddoux c. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. Aksentijevich I, et al. Among authors: oddoux c. Am J Hum Genet. 1999 Apr;64(4):949-62. doi: 10.1086/302327. Am J Hum Genet. 1999. PMID: 10090880 Free PMC article.
Mendelian diseases among Roman Jews: implications for the origins of disease alleles.
Oddoux C, Guillen-Navarro E, Ditivoli C, Dicave E, Cilio MR, Clayton CM, Nelson H, Sarafoglou K, McCain N, Peretz H, Seligsohn U, Luzzatto L, Nafa K, Nardi M, Karpatkin M, Aksentijevich I, Kastner D, Axelrod F, Ostrer H. Oddoux C, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4405-9. doi: 10.1210/jcem.84.12.6268. J Clin Endocrinol Metab. 1999. PMID: 10599695 Review.
The genetic history of Cochin Jews from India.
Waldman YY, Biddanda A, Dubrovsky M, Campbell CL, Oddoux C, Friedman E, Atzmon G, Halperin E, Ostrer H, Keinan A. Waldman YY, et al. Among authors: oddoux c. Hum Genet. 2016 Oct;135(10):1127-43. doi: 10.1007/s00439-016-1698-y. Epub 2016 Jul 4. Hum Genet. 2016. PMID: 27377974 Free PMC article.
Expanded genetic screening panel for the Ashkenazi Jewish population.
Baskovich B, Hiraki S, Upadhyay K, Meyer P, Carmi S, Barzilai N, Darvasi A, Ozelius L, Peter I, Cho JH, Atzmon G, Clark L, Yu J, Lencz T, Pe'er I, Ostrer H, Oddoux C. Baskovich B, et al. Among authors: oddoux c. Genet Med. 2016 May;18(5):522-8. doi: 10.1038/gim.2015.123. Epub 2015 Sep 3. Genet Med. 2016. PMID: 26334176 Free PMC article.
51 results