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Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB. Liburd N, et al. Among authors: menon ps. Hum Genet. 2001 Nov;109(5):535-41. doi: 10.1007/s004390100604. Epub 2001 Oct 3. Hum Genet. 2001. PMID: 11735029
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: menon ps. Nat Genet. 2002 Mar;30(3):277-84. doi: 10.1038/ng842. Epub 2002 Feb 19. Nat Genet. 2002. PMID: 11850618
Fraser-cryptophthalmos syndrome.
Kabra M, Gulati S, Ghosh M, Menon PS. Kabra M, et al. Among authors: menon ps. Indian J Pediatr. 2000 Oct;67(10):775-8. doi: 10.1007/BF02723939. Indian J Pediatr. 2000. PMID: 11105430 Review.
Is the spectrum of mutations in Indian patients with cystic fibrosis different?
Kabra M, Kabra SK, Ghosh M, Khanna A, Arora S, Menon PS, Verma IC, Wallace A. Kabra M, et al. Among authors: menon ps. Am J Med Genet. 2000 Jul 17;93(2):161-3. doi: 10.1002/1096-8628(20000717)93:2<161::aid-ajmg15>3.0.co;2-l. Am J Med Genet. 2000. PMID: 10869121 No abstract available.
Idiopathic cranio-osteoarthropathy.
Kabra M, Kabra SK, Ghosh M, Gupta AK, Menon PS. Kabra M, et al. Among authors: menon ps. Indian Pediatr. 2000 Jun;37(6):659-62. Indian Pediatr. 2000. PMID: 10869149 No abstract available.
250 results