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2003 1
2004 2
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2006 1
2007 1
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2010 2
2011 1
2012 3
2013 2
2014 2
2015 1
2016 4
2017 3
2018 1
2019 4
2020 6
2021 6
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39 results
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Did you mean epstein f[au] (827 results)?
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H. Kröll-Hermi A, et al. Among authors: ebstein f. EMBO Mol Med. 2020 Jul 7;12(7):e11861. doi: 10.15252/emmm.201911861. Epub 2020 Jun 5. EMBO Mol Med. 2020. PMID: 32500975 Free PMC article.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. Küry S, et al. Among authors: ebstein f. Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132691 Free PMC article.
The Ubiquitin-Proteasome System in Immune Cells.
Çetin G, Klafack S, Studencka-Turski M, Krüger E, Ebstein F. Çetin G, et al. Among authors: ebstein f. Biomolecules. 2021 Jan 5;11(1):60. doi: 10.3390/biom11010060. Biomolecules. 2021. PMID: 33466553 Free PMC article. Review.
SIGLEC1 (CD169) as a potential diagnostical screening marker for monogenic interferonopathies.
Orak B, Ngoumou G, Ebstein F, Zieba B, Goetzke CC, Knierim E, Kaindl AM, Panzer A, Theophil M, Berns M, Krüger E, Meisel C, Unterwalder N, Kallinich T. Orak B, et al. Among authors: ebstein f. Pediatr Allergy Immunol. 2021 Apr;32(3):621-625. doi: 10.1111/pai.13400. Epub 2020 Nov 9. Pediatr Allergy Immunol. 2021. PMID: 33099809 No abstract available.
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M, Ebstein F, Özkoç H, Paracha SA, Iwaszkiewicz J, Gesemann M, Zoete V, Ranza E, Santoni FA, Sarwar MT, Ahmed J, Krüger E, Bachmann-Gagescu R, Antonarakis SE. Ansar M, et al. Among authors: ebstein f. Hum Mol Genet. 2020 May 8;29(7):1132-1143. doi: 10.1093/hmg/ddaa032. Hum Mol Genet. 2020. PMID: 32129449
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. Garret P, et al. Among authors: ebstein f. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. Clin Genet. 2020. PMID: 31997314
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