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Page 1
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. Among authors: kinoshita a. 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.
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. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241
Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan.
Kuniba H, Tsuda M, Nakashima M, Miura S, Miyake N, Kondoh T, Matsumoto T, Moriuchi H, Ohashi H, Kurosawa K, Tonoki H, Nagai T, Okamoto N, Kato M, Fukushima Y, Naritomi K, Matsumoto N, Kinoshita A, Yoshiura KI, Niikawa N. Kuniba H, et al. Among authors: kinoshita a. J Med Genet. 2008 Jul;45(7):479-80. doi: 10.1136/jmg.2008.058503. J Med Genet. 2008. PMID: 18593871 Free article. No abstract available.
Identification of eight novel NSD1 mutations in Sotos syndrome.
Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: kinoshita a. J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126. J Med Genet. 2003. PMID: 14627693 Free PMC article. No abstract available.
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1.
Saito T, Kinoshita A, Yoshiura Ki, Makita Y, Wakui K, Honke K, Niikawa N, Taniguchi N. Saito T, et al. Among authors: kinoshita a. J Biol Chem. 2001 Apr 13;276(15):11469-72. doi: 10.1074/jbc.C000859200. Epub 2001 Feb 13. J Biol Chem. 2001. PMID: 11278244 Free article.
Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.
Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K. Ono S, et al. Among authors: kinoshita a. Eur Respir J. 2011 Oct;38(4):861-9. doi: 10.1183/09031936.00143610. Epub 2011 Aug 4. Eur Respir J. 2011. PMID: 21828032 Free article.
859 results