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Year Number of Results
1944 1
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1947 3
1948 1
1949 3
1950 5
1951 2
1952 5
1953 3
1954 5
1956 3
1958 4
1959 2
1960 2
1961 1
1962 6
1963 1
1965 1
1966 1
1968 2
1969 4
1970 2
1971 3
1972 1
1974 1
1975 1
1976 1
1977 1
1980 1
1982 2
1983 1
1984 1
1985 6
1986 9
1987 5
1988 12
1993 2
1994 2
1995 1
1996 1
1999 1
2000 2
2001 2
2002 2
2003 10
2004 3
2005 6
2006 7
2007 11
2008 15
2009 7
2010 18
2011 14
2012 21
2013 27
2014 25
2015 29
2016 29
2017 31
2018 28
2019 26
2020 36
2021 45
2022 39
2023 26
2024 24

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537 results

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Page 1
Vaping-Associated Lung Injury: A Review.
O'Callaghan M, Boyle N, Fabre A, Keane MP, McCarthy C. O'Callaghan M, et al. Among authors: fabre a. Medicina (Kaunas). 2022 Mar 10;58(3):412. doi: 10.3390/medicina58030412. Medicina (Kaunas). 2022. PMID: 35334588 Free PMC article. Review.
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: fabre a. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Couchonnal E, Bouchard S, Sandahl TD, Pagan C, Lion-François L, Guillaud O, Habes D, Debray D, Lamireau T, Broué P, Fabre A, Vanlemmens C, Sobesky R, Gottrand F, Bridoux-Henno L, Belmalih A, Poujois A, Brunet AS, Lachaux A, Bost M. Couchonnal E, et al. Among authors: fabre a. Eur J Med Genet. 2021 Oct;64(10):104305. doi: 10.1016/j.ejmg.2021.104305. Epub 2021 Aug 13. Eur J Med Genet. 2021. PMID: 34400371
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: fabre a. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
European Respiratory Society statement on familial pulmonary fibrosis.
Borie R, Kannengiesser C, Antoniou K, Bonella F, Crestani B, Fabre A, Froidure A, Galvin L, Griese M, Grutters JC, Molina-Molina M, Poletti V, Prasse A, Renzoni E, van der Smagt J, van Moorsel CHM. Borie R, et al. Among authors: fabre a. Eur Respir J. 2023 Mar 16;61(3):2201383. doi: 10.1183/13993003.01383-2022. Print 2023 Mar. Eur Respir J. 2023. PMID: 36549714 Free article. Review.
Lymphangioleiomyomatosis: a clinical review.
O'Mahony AM, Lynn E, Murphy DJ, Fabre A, McCarthy C. O'Mahony AM, et al. Among authors: fabre a. Breathe (Sheff). 2020 Jun;16(2):200007. doi: 10.1183/20734735.0007-2020. Breathe (Sheff). 2020. PMID: 33304400 Free PMC article. Review.
Trichohepatoenteric Syndrome.
Fabre A, Bourgeois P, Chaix C, Bertaux K, Goulet O, Badens C. Fabre A, et al. 2018 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 Jan 11. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29334452 Free Books & Documents. Review.
Targeting the NLRP3 inflammasome reduces inflammation in hidradenitis suppurativa skin.
Moran B, Smith CM, Zaborowski A, Ryan M, Karman J, Dunstan RW, Smith KM, Hambly R, Musilova J, Petrasca A, Fabre A, O'Donnell M, Hokamp K, Mills KHG, Housley WJ, Winter DC, Kirby B, Fletcher JM. Moran B, et al. Among authors: fabre a. Br J Dermatol. 2023 Sep 15;189(4):447-458. doi: 10.1093/bjd/ljad184. Br J Dermatol. 2023. PMID: 37243544
A generalized unexpected eruption.
Ralph J, Maguire M, Malone V, Fabre A, Foley CC. Ralph J, et al. Among authors: fabre a. Clin Exp Dermatol. 2021 Mar;46(2):383-386. doi: 10.1111/ced.14474. Epub 2020 Oct 20. Clin Exp Dermatol. 2021. PMID: 33080076 No abstract available.
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B. Bögershausen N, et al. Among authors: fabre a. Hum Mutat. 2016 Sep;37(9):847-64. doi: 10.1002/humu.23026. Epub 2016 Jul 7. Hum Mutat. 2016. PMID: 27302555
537 results