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1,016 results

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Page 1
Mutations in PIGL in a patient with Mabry syndrome.
Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y. Fujiwara I, et al. Among authors: matsubara y. Am J Med Genet A. 2015 Apr;167A(4):777-85. doi: 10.1002/ajmg.a.36987. Epub 2015 Feb 23. Am J Med Genet A. 2015. PMID: 25706356
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. Nat Genet. 2005 Oct;37(10):1038-40. doi: 10.1038/ng1641. Epub 2005 Sep 18. Nat Genet. 2005. PMID: 16170316
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Niihori T, et al. Among authors: matsubara y. Nat Genet. 2006 Mar;38(3):294-6. doi: 10.1038/ng1749. Epub 2006 Feb 12. Nat Genet. 2006. PMID: 16474404
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: matsubara y. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
Narumi Y, Aoki Y, Niihori T, Sakurai M, Cavé H, Verloes A, Nishio K, Ohashi H, Kurosawa K, Okamoto N, Kawame H, Mizuno S, Kondoh T, Addor MC, Coeslier-Dieux A, Vincent-Delorme C, Tabayashi K, Aoki M, Kobayashi T, Guliyeva A, Kure S, Matsubara Y. Narumi Y, et al. Among authors: matsubara y. J Hum Genet. 2008;53(9):834-841. doi: 10.1007/s10038-008-0320-0. Epub 2008 Jul 24. J Hum Genet. 2008. PMID: 18651097
Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.
Abe Y, Aoki Y, Kuriyama S, Kawame H, Okamoto N, Kurosawa K, Ohashi H, Mizuno S, Ogata T, Kure S, Niihori T, Matsubara Y; Costello and CFC syndrome study group in Japan. Abe Y, et al. Among authors: matsubara y. Am J Med Genet A. 2012 May;158A(5):1083-94. doi: 10.1002/ajmg.a.35292. Epub 2012 Apr 11. Am J Med Genet A. 2012. PMID: 22495831
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.
Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y. Niihori T, et al. Among authors: matsubara y. Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12. Am J Hum Genet. 2015. PMID: 26581901 Free PMC article.
[Inborn errors of metabolism].
Sakamoto O, Matsubara Y. Sakamoto O, et al. Among authors: matsubara y. Nihon Rinsho. 2005 Dec;63 Suppl 12:269-72. Nihon Rinsho. 2005. PMID: 16416806 Review. Japanese. No abstract available.
1,016 results