Deafness and Related Syndromes
Author:
Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-1-4020-2231-9_18.pdf
Reference105 articles.
1. 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 (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.
2. Ahmad NN, Ala-Kokko L, Knowlton RG, Jiminez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ (1991) Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome. Proc. Nat. Acad. Sci 88: 6624–27.
3. Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Riazuddin S, Friedman TB, Wilcox ER (2002) Nonsyndromic recessive deafness DFNB 18 and Usher syndrome type IC are allelic mutations of USHIC. Hum. Genet 110 (6): 527–31.
4. Al-Gazali LI (1998) A genetic aetiological survey of severe childhood deafness in the United Arab Emirates. J. Trop. Pediatr 44 (3): 157–60.
5. Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM (2003) A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1–14q24.3 in large consanguineous kindred from Pakistan. Eur. J. Hum. Genet 11 (1): 77–80.
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