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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1954 1
1961 1
1965 1
1966 4
1967 1
1968 2
1972 2
1973 3
1975 2
1976 3
1977 1
1978 3
1979 9
1980 7
1981 3
1982 7
1983 9
1984 13
1985 6
1986 13
1987 9
1988 10
1989 17
1990 17
1991 11
1992 16
1993 14
1994 21
1995 15
1996 12
1997 18
1998 27
1999 21
2000 26
2001 20
2002 15
2003 18
2004 33
2005 28
2006 31
2007 24
2008 30
2009 15
2010 22
2011 33
2012 34
2013 32
2014 34
2015 38
2016 40
2017 35
2018 42
2019 45
2020 45
2021 20
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Search Results

880 results
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Page 1
Recent advances in RASopathies.
Aoki Y, Niihori T, Inoue S, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. 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.
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: matsubara y. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype.
Hirabayashi S, Ohki K, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yaguchi A, Terada K, Saito Y, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fujimura J, Hino M, Kinoshita A, Kakuda H, Kurosawa H, Kato K, Kajiwara R, Moriwaki K, Morimoto T, Nakamura K, Noguchi Y, Osumi T, Sakashita K, Takita J, Yuza Y, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Fukushima T, Koh K, Manabe A, Ohara A, Kiyokawa N; Tokyo Children’s Cancer Study Group (TCCSG). Hirabayashi S, et al. Among authors: matsubara y. Haematologica. 2017 Jan;102(1):118-129. doi: 10.3324/haematol.2016.151035. Epub 2016 Sep 15. Haematologica. 2017. PMID: 27634205 Free PMC article.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Hattori A, et al. Among authors: matsubara y. Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3. Endocr J. 2017. PMID: 28768959 Free article.
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
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion.
Ohki K, Kiyokawa N, Saito Y, Hirabayashi S, Nakabayashi K, Ichikawa H, Momozawa Y, Okamura K, Yoshimi A, Ogata-Kawata H, Sakamoto H, Kato M, Fukushima K, Hasegawa D, Fukushima H, Imai M, Kajiwara R, Koike T, Komori I, Matsui A, Mori M, Moriwaki K, Noguchi Y, Park MJ, Ueda T, Yamamoto S, Matsuda K, Yoshida T, Matsumoto K, Hata K, Kubo M, Matsubara Y, Takahashi H, Fukushima T, Hayashi Y, Koh K, Manabe A, Ohara A; Tokyo Children’s Cancer Study Group (TCCSG). Ohki K, et al. Among authors: matsubara y. Haematologica. 2019 Jan;104(1):128-137. doi: 10.3324/haematol.2017.186320. Epub 2018 Aug 31. Haematologica. 2019. PMID: 30171027 Free PMC article. Clinical Trial.
Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis.
Masamune A, Kotani H, Sörgel FL, Chen JM, Hamada S, Sakaguchi R, Masson E, Nakano E, Kakuta Y, Niihori T, Funayama R, Shirota M, Hirano T, Kawamoto T, Hosokoshi A, Kume K, Unger L, Ewers M, Laumen H, Bugert P, Mori MX, Tsvilovskyy V, Weißgerber P, Kriebs U, Fecher-Trost C, Freichel M, Diakopoulos KN, Berninger A, Lesina M, Ishii K, Itoi T, Ikeura T, Okazaki K, Kaune T, Rosendahl J, Nagasaki M, Uezono Y, Algül H, Nakayama K, Matsubara Y, Aoki Y, Férec C, Mori Y, Witt H, Shimosegawa T. Masamune A, et al. Among authors: matsubara y. Gastroenterology. 2020 May;158(6):1626-1641.e8. doi: 10.1053/j.gastro.2020.01.005. Epub 2020 Jan 10. Gastroenterology. 2020. PMID: 31930989
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Among authors: matsubara y. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.
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