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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: niihori t. 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. 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: niihori t. 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: niihori t. 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
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Kobayashi T, et al. Among authors: niihori t. Hum Mutat. 2010 Mar;31(3):284-94. doi: 10.1002/humu.21187. Hum Mutat. 2010. PMID: 20052757
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, Ohashi H, Mizuno S, Watanabe Y, Kamasaki H, Kondo I, Moriyama N, Kurosawa K, Kawame H, Okuyama R, Imaizumi M, Rikiishi T, Tsuchiya S, Kure S, Matsubara Y. Komatsuzaki S, et al. Among authors: niihori t. J Hum Genet. 2010 Dec;55(12):801-9. doi: 10.1038/jhg.2010.116. Epub 2010 Sep 30. J Hum Genet. 2010. PMID: 20882035
93 results