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Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: ghadami m. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241
Isolated congenital anosmia locus maps to 18p11.23-q12.2.
Ghadami M, Morovvati S, Majidzadeh-A K, Damavandi E, Nishimura G, Kinoshita A, Pasalar P, Komatsu K, Najafi MT, Niikawa N, Yoshiura K. Ghadami M, et al. J Med Genet. 2004 Apr;41(4):299-303. doi: 10.1136/jmg.2003.015313. J Med Genet. 2004. PMID: 15060109 Free PMC article. No abstract available.
Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.
Yamada K, Limprasert P, Ratanasukon M, Tengtrisorn S, Yingchareonpukdee J, Vasiknanonte P, Kitaoka T, Ghadami M, Niikawa N, Kishino T. Yamada K, et al. Among authors: ghadami m. Am J Med Genet. 2001 Apr 15;100(1):52-5. doi: 10.1002/1096-8628(20010415)100:1<52::aid-ajmg1214>3.0.co;2-b. Am J Med Genet. 2001. PMID: 11337749
A SNP in the ABCC11 gene is the determinant of human earwax type.
Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N. Yoshiura K, et al. Among authors: ghadami m. Nat Genet. 2006 Mar;38(3):324-30. doi: 10.1038/ng1733. Epub 2006 Jan 29. Nat Genet. 2006. PMID: 16444273
94 results