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Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. Among authors: niihori t. J Hum Genet. 2016 Jan;61(1):33-9. doi: 10.1038/jhg.2015.114. Epub 2015 Oct 8. J Hum Genet. 2016. PMID: 26446362 Review.
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
Niihori T, Aoki Y, Ohashi H, Kurosawa K, Kondoh T, Ishikiriyama S, Kawame H, Kamasaki H, Yamanaka T, Takada F, Nishio K, Sakurai M, Tamai H, Nagashima T, Suzuki Y, Kure S, Fujii K, Imaizumi M, Matsubara Y. Niihori T, et al. J Hum Genet. 2005;50(4):192-202. doi: 10.1007/s10038-005-0239-7. Epub 2005 Apr 15. J Hum Genet. 2005. PMID: 15834506
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
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y. Kamada F, et al. Among authors: niihori t. J Hum Genet. 2006;51(5):455-460. doi: 10.1007/s10038-006-0384-7. Epub 2006 Apr 5. J Hum Genet. 2006. PMID: 16596322
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
We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mutations in the previous study [Niihori et al., 2006]. ...
We detected one MAP2K1 mutation in three patients and four new MAP2K2 mutations in four patients out of 24 patients without KRAS or BRAF mut …
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. Makita Y, et al. Among authors: niihori t. J Pediatr Hematol Oncol. 2007 May;29(5):287-90. doi: 10.1097/MPH.0b013e3180547136. J Pediatr Hematol Oncol. 2007. PMID: 17483702
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: niihori t. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC article.
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. Aoki Y, et al. Among authors: niihori t. Hum Mutat. 2008 Aug;29(8):992-1006. doi: 10.1002/humu.20748. Hum Mutat. 2008. PMID: 18470943 Review.
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
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