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Results by year

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

Year Number of Results
1980 3
1981 2
1982 1
1983 6
1984 8
1985 1
1986 9
1987 7
1988 3
1989 3
1990 9
1991 4
1992 6
1993 5
1994 6
1995 7
1996 10
1997 3
1998 4
1999 10
2000 5
2001 4
2002 6
2003 10
2004 19
2005 18
2006 23
2007 36
2008 23
2009 30
2010 38
2011 48
2012 57
2013 59
2014 50
2015 49
2016 71
2017 62
2018 56
2019 53
2020 78
2021 80
2022 88
2023 63

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Publication date

PubMed for id: 120517

1,009 results

Results by year

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Page 1
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
Banfi F, Rubio A, Zaghi M, Massimino L, Fagnocchi G, Bellini E, Luoni M, Cancellieri C, Bagliani A, Di Resta C, Maffezzini C, Ianielli A, Ferrari M, Piazza R, Mologni L, Broccoli V, Sessa A. Banfi F, et al. Nat Commun. 2021 Jun 30;12(1):4050. doi: 10.1038/s41467-021-24391-3. Nat Commun. 2021. PMID: 34193871 Free PMC article.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, Hoover-Fong J, Telegrafi AB, Destree A, Smigiel R, Lambie LA, Kayserili H, Altunoglu U, Lapi E, Uzielli ML, Aracena M, Nur BG, Mihci E, Moreira LM, Borges Ferreira V, Horovitz DD, da Rocha KM, Jezela-Stanek A, Brooks AS, Reutter H, Cohen JS, Fatemi A, Smitka M, Grebe TA, Di Donato N, Deshpande C, Vandersteen A, Marques Lourenço C, Dufke A, Rossier E, Andre G, Baumer A, Spencer C, McGaughran J, Franke L, Veltman JA, De Vries BB, Schinzel A, Fisher SE, Hoischen A, van Bon BW. Acuna-Hidalgo R, et al. PLoS Genet. 2017 Mar 27;13(3):e1006683. doi: 10.1371/journal.pgen.1006683. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28346496 Free PMC article.
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
Hishimura N, Watari M, Ohata H, Fuseya N, Wakiguchi S, Tokutomi T, Okuhara K, Takahashi N, Iizuka S, Yamamoto H, Mishima T, Fujieda S, Kobayashi R, Cho K, Kuroda Y, Kurosawa K, Tonoki H. Hishimura N, et al. Clin Case Rep. 2016 Nov 17;5(1):5-8. doi: 10.1002/ccr3.738. eCollection 2017 Jan. Clin Case Rep. 2016. PMID: 28096980 Free PMC article.
1,009 results