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

Year Number of Results
1950 1
1952 1
1953 1
1954 1
1955 1
1956 2
1957 4
1958 4
1959 3
1960 2
1961 5
1962 7
1963 7
1964 4
1965 9
1966 14
1967 12
1968 5
1969 11
1970 13
1971 11
1972 17
1973 12
1974 11
1975 12
1976 10
1977 13
1978 22
1979 25
1980 13
1981 15
1982 14
1983 22
1984 18
1985 20
1986 19
1987 26
1988 28
1989 24
1990 26
1991 16
1992 19
1993 34
1994 23
1995 19
1996 32
1997 22
1998 32
1999 26
2000 23
2001 35
2002 26
2003 32
2004 27
2005 30
2006 36
2007 37
2008 37
2009 43
2010 52
2011 45
2012 50
2013 54
2014 55
2015 72
2016 54
2017 64
2018 50
2019 58
2020 25
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Publication date

Search Results

1,493 results
Results by year
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Page 1
Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions.
Valent P, Orazi A, Steensma DP, Ebert BL, Haase D, Malcovati L, van de Loosdrecht AA, Haferlach T, Westers TM, Wells DA, Giagounidis A, Loken M, Orfao A, Lübbert M, Ganser A, Hofmann WK, Ogata K, Schanz J, Béné MC, Hoermann G, Sperr WR, Sotlar K, Bettelheim P, Stauder R, Pfeilstöcker M, Horny HP, Germing U, Greenberg P, Bennett JM. Valent P, et al. Among authors: Ogata K. Oncotarget. 2017 Jul 5;8(43):73483-73500. doi: 10.18632/oncotarget.19008. eCollection 2017 Sep 26. Oncotarget. 2017. PMID: 29088721 Free PMC article.
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.
Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Akita T, et al. Among authors: Ogata K. Ann Clin Transl Neurol. 2018 Jan 29;5(3):280-296. doi: 10.1002/acn3.528. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560374 Free PMC article.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: Ogata K. Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052. Hum Mol Genet. 2018. PMID: 29432562
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
Fassio A, Esposito A, Kato M, Saitsu H, Mei D, Marini C, Conti V, Nakashima M, Okamoto N, Olmez Turker A, Albuz B, Semerci Gündüz CN, Yanagihara K, Belmonte E, Maragliano L, Ramsey K, Balak C, Siniard A, Narayanan V; C4RCD Research Group, Ohba C, Shiina M, Ogata K, Matsumoto N, Benfenati F, Guerrini R. Fassio A, et al. Among authors: Ogata K. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092. Brain. 2018. PMID: 29668857 Free PMC article.
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Ishiura H, et al. Among authors: Ogata K. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. Nat Genet. 2019. PMID: 31332380
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Çağlayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG. Lardelli RM, et al. Among authors: Ogata K. Nat Genet. 2017 Mar;49(3):457-464. doi: 10.1038/ng.3762. Epub 2017 Jan 16. Nat Genet. 2017. PMID: 28092684 Free PMC article.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: Ogata K. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. Mizuguchi T, et al. Among authors: Ogata K. J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12. J Hum Genet. 2017. PMID: 28077841
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Fujita A, Tsukaguchi H, Koshimizu E, Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N, Miyake N. Fujita A, et al. Among authors: Ogata K. Ann Neurol. 2018 Dec;84(6):814-828. doi: 10.1002/ana.25370. Ann Neurol. 2018. PMID: 30427554
Dose-dependency of multiple free radical-scavenging activity of edaravone.
Tokumaru O, Shuto Y, Ogata K, Kamibayashi M, Bacal K, Takei H, Yokoi I, Kitano T. Tokumaru O, et al. Among authors: Ogata K. J Surg Res. 2018 Aug;228:147-153. doi: 10.1016/j.jss.2018.03.020. Epub 2018 Apr 11. J Surg Res. 2018. PMID: 29907205
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