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

Year Number of Results
1955 2
1964 7
1965 10
1966 4
1967 7
1968 6
1969 3
1970 3
1972 1
1973 1
1975 1
1976 1
1977 3
1978 6
1979 10
1980 2
1981 1
1982 4
1983 2
1984 5
1985 1
1986 3
1987 5
1988 2
1989 2
1990 2
1991 5
1992 4
1993 8
1994 12
1995 5
1996 1
1997 7
1998 5
1999 6
2000 4
2001 7
2002 6
2003 5
2004 9
2005 3
2006 4
2007 9
2008 13
2009 14
2010 13
2011 20
2012 19
2013 19
2014 25
2015 17
2016 22
2017 12
2018 12
2019 13
2020 23
2021 9
2022 34
2023 19
2024 15
2025 20

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468 results

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Page 1
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A, Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Zweier C, Reis A, Wagner M, Weigand H, Journel H, Keren B, Passemard S, Mignot C, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Alembik Y, Durand B, Tran Mau-Them F, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Gerard B. Schalk A, et al. Among authors: durand b. J Med Genet. 2022 Oct;59(10):965-975. doi: 10.1136/jmedgenet-2021-107751. Epub 2021 Dec 15. J Med Genet. 2022. PMID: 34930816 Free PMC article.
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.
Al Qureshah F, Le Pen J, de Weerd NA, Moncada-Velez M, Materna M, Lin DC, Milisavljevic B, Vianna F, Bizien L, Lorenzo L, Lecuit M, Pommier JD, Keles S, Ozcelik T, Pedraza-Sanchez S, de Prost N, El Zein L, Hammoud H, Ng LFP, Halwani R, Saheb Sharif-Askari N, Lau YL, Tam AR, Singh N, Bhattad S, Berkun Y, Chantratita W, Aguilar-López R, Shahrooei M; COVID-19 HGE Consortium; SEAe Consortium; Abel L, Bastard P, Jouanguy E, Béziat V, Zhang P, Rice CM, Cobat A, Zhang SY, Hertzog PJ, Casanova JL, Zhang Q. Al Qureshah F, et al. J Exp Med. 2025 Feb 3;222(2):e20241413. doi: 10.1084/jem.20241413. Epub 2024 Dec 16. J Exp Med. 2025. PMID: 39680367 Free PMC article.
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Leitão E, Santini A, Cogne B, Essid M, Athanasiadou M, LaFlamme CW, Marijon P, Bernard V, Chatron N, Barcia G, Keren B, Mignot C, Charles P, Besnard T, de Sainte Agathe JM, Fuerte EPA, Sengupta S, Milh M, Ramond F, Allan T, An I, Araujo C, Arpin S, Austin-Tse C, Auvin S, Baer S, Bahi-Buisson N, Bak M, Barth M, Baulac S, Weirauch NB, Begemann M, Bennett MF, Bensabath U, Bézieau S, Bhouri R, Biehler M, Hammer TB, Bogoin J, Bonanno E, Boussion S, Bramswig NC, Bris C, Brosseau-Beauvir A, Bruel AL, Buratti J, Chambon P, Chemaly N, Chesneau B, Colin E, Colmard M, Conrad S, Courtin T, Dang LT, de Saint Martin A, de Vanssay de Blavous Legendre C, Denommé-Pichon AS, DiTroia S, Doco-Fenzy M, Dubourg C, Dubucs C, Ducreux S, Dufour L, Duquet R, Durand B, Chehadeh SE, Elbracht M, Faivre L, Faoucher M, Faudet A, Forlani S, Fradin M, Gaignard P, Ganne B, Garde A, Géraud J, Gill D, Goldenberg A, Grabli D, Grisel C, Gueden S, Gueguen P, Guerrot AM, Guichet A, Härting N, Häusler MG, Heide S, Héron B, Héron D, Heulin M, Houdayer C, Isidor B, Jacquette A, Januel L, Jean-Marçais N, Jousselin K, Kaiser FJ, Kaya S, King C, Konyukh M, Kraft F, Krause J, Kirstetter R, Kuechler A, Kurth I, Labalme A… See abstract for full author list ➔ Leitão E, et al. Among authors: durand b. medRxiv [Preprint]. 2025 Sep 4:2025.09.02.25334923. doi: 10.1101/2025.09.02.25334923. medRxiv. 2025. PMID: 40950445 Free PMC article. Preprint.
[Vascular graft prosthesis].
Chakfé N, Dieval F, Thaveau F, Rinckenbach S, Hassani O, Camelot G, Durand B, Kretz JG; Groupe européen de recherche sur les prothèses appliquées à la chirurgie vasculaire. Chakfé N, et al. Among authors: durand b. Ann Chir. 2004 Jun;129(5):301-9. doi: 10.1016/j.anchir.2004.05.002. Ann Chir. 2004. PMID: 15220107 Review. French.
Conference Report: Cerebellar Development and Disease at Single-Cell Resolution.
Kutscher LM, Aprile D, Bayin NS, Becker EBE, Cerrato V, Turrini G, Coolen M, Cantagrel V, Durand BC, Evans Ii MK, Haldipur P, Millen KJ, Yeung J, Goldowitz D, Hatten ME, Joyner AL, Kebschull JM, Li JYH, Quadrato G, Schmidt C, Sepp M, Silva TP, Testa G, Tiberi L, Mayer S. Kutscher LM, et al. Among authors: durand bc. Cerebellum. 2025 Jun 5;24(4):109. doi: 10.1007/s12311-025-01864-5. Cerebellum. 2025. PMID: 40471378 Free PMC article. No abstract available.
[Transcriptional control of ciliary genes].
Vieillard J, Jerber J, Durand B. Vieillard J, et al. Among authors: durand b. Med Sci (Paris). 2014 Nov;30(11):968-75. doi: 10.1051/medsci/20143011010. Epub 2014 Nov 10. Med Sci (Paris). 2014. PMID: 25388578 Free article. Review. French.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Ruault V, Burger P, Gradels-Hauguel J, Ruiz N; Xtraordinaire; Jamra RA, Afenjar A, Alembik Y, Alessandri JL, Arpin S, Barcia G, Bendová Š, Bruel AL, Charles P, Chatron N, Chopra M, Conrad S, Daire VC, Cospain A, Coubes C, Coursimault J, Delahaye-Duriez A, Doco M, Dufour W, Durand B, Engel C, Faivre L, Ferroul F, Fradin M, Frenkiel H, Fusco C, Garavelli L, Garde A, Gerard B, Germanaud D, Goujon L, Gouronc A, Ginglinger E, Goldenberg A, Hancarova M, Havlovicová M, Heron D, Isidor B, Marçais NJ, Keren B, Koch-Hogrebe M, Kuentz P, Lamure V, Lebre AS, Lecoquierre F, Lehman N, Lesca G, Lyonnet S, Martin D, Mignot C, Neuhann TM, Nicolas G, Nizon M, Petit F, Philippe C, Piton A, Pollazzon M, Prchalová D, Putoux A, Rio M, Rondeau S, Rossi M, Sabbagh Q, Saugier-Veber P, Schmetz A, Steffann J, Thauvin-Robinet C, Toutain A, Them FTM, Trimarchi G, Vincent M, Vlčková M, Wieczorek D, Willems M, Yauy K, Zelinová M, Ziegler A; GENIDA Project; Chaumette B, Sadikovic B, Mandel JL, Geneviève D. Ruault V, et al. Among authors: durand b. Mol Genet Genomic Med. 2024 Jan;12(1):e2363. doi: 10.1002/mgg3.2363. Mol Genet Genomic Med. 2024. PMID: 38284452 Free PMC article.
Acetazolamide-induced thrombocytopenia.
Kodjikian L, Durand B, Burillon C, Rouberol F, Grange JD, Renaudier P. Kodjikian L, et al. Among authors: durand b. Arch Ophthalmol. 2004 Oct;122(10):1543-4. doi: 10.1001/archopht.122.10.1543. Arch Ophthalmol. 2004. PMID: 15477470 No abstract available.
468 results