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

Year Number of Results
1993 1
2007 1
2008 1
2009 1
2011 1
2012 3
2013 4
2014 4
2015 1
2016 3
2017 6
2018 8
2019 8
2020 7
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44 results
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Page 1
Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review.
Fabre A, Marchal S, Barlogis V, Mari B, Barbry P, Rohrlich PS, Forbes LR, Vogel TP, Giovannini-Chami L. Fabre A, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1958-1969.e9. doi: 10.1016/j.jaip.2019.02.018. Epub 2019 Feb 27. J Allergy Clin Immunol Pract. 2019. PMID: 30825606
Trichohepatoenteric Syndrome.
Fabre A, Bourgeois P, Chaix C, Bertaux K, Goulet O, Badens C. Fabre A, et al. 2018 Jan 11. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 29334452 Free Books & Documents. Review.
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Vély F, Barlogis V, Marinier E, Coste ME, Dubern B, Dugelay E, Lemale J, Martinez-Vinson C, Peretti N, Perry A, Bourgeois P, Badens C, Goulet O, Hugot JP, Farnarier C, Fabre A. Vély F, et al. Among authors: fabre a. Front Immunol. 2018 May 11;9:1036. doi: 10.3389/fimmu.2018.01036. eCollection 2018. Front Immunol. 2018. PMID: 29868001 Free PMC article.
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical consortium, Fabre A, Badens C. Bourgeois P, et al. Among authors: fabre a. Hum Mutat. 2018 Jun;39(6):774-789. doi: 10.1002/humu.23418. Epub 2018 Mar 25. Hum Mutat. 2018. PMID: 29527791 Review.
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Charbit-Henrion F, Parlato M, Hanein S, Duclaux-Loras R, Nowak J, Begue B, Rakotobe S, Bruneau J, Fourrage C, Alibeu O, Rieux-Laucat F, Lévy E, Stolzenberg MC, Mazerolles F, Latour S, Lenoir C, Fischer A, Picard C, Aloi M, Dias JA, Hariz MB, Bourrier A, Breuer C, Breton A, Bronski J, Buderus S, Cananzi M, Coopman S, Crémilleux C, Dabadie A, Dumant-Forest C, Gurkan OE, Fabre A, Fischer A, Diaz MG, Gonzalez-Lama Y, Goulet O, Guariso G, Gurcan N, Homan M, Hugot JP, Jeziorski E, Karanika E, Lachaux A, Lewindon P, Lima R, Magro F, Major J, Malamut G, Mas E, Mattyus I, Mearin LM, Melek J, Navas-Lopez VM, Paerregaard A, Pelatan C, Pigneur B, Pais IP, Rebeuh J, Romano C, Siala N, Strisciuglio C, Tempia-Caliera M, Tounian P, Turner D, Urbonas V, Willot S, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: fabre a. J Crohns Colitis. 2018 Aug 29;12(9):1104-1112. doi: 10.1093/ecco-jcc/jjy068. J Crohns Colitis. 2018. PMID: 29788237 Free PMC article.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari ME, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, Grimbacher B, Biebl A, Schauer U, Hague R, Neth O, Mauracher A, Pachlopnik Schmid J, Fabre A, Kostyuchenko L, Führer M, Lorenz MR, Schwarz K, Rohr J, Ehl S. Jägle S, et al. Among authors: fabre a. Clin Immunol. 2020 Jan;210:108316. doi: 10.1016/j.clim.2019.108316. Epub 2019 Nov 23. Clin Immunol. 2020. PMID: 31770611
Child with liver transplant recovers from COVID-19 infection. A case report.
Morand A, Roquelaure B, Colson P, Amrane S, Bosdure E, Raoult D, Lagier JC, Fabre A. Morand A, et al. Among authors: fabre a. Arch Pediatr. 2020 Jul;27(5):275-276. doi: 10.1016/j.arcped.2020.05.004. Epub 2020 May 6. Arch Pediatr. 2020. PMID: 32402433 Free PMC article.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Esteve C, Francescatto L, Tan PL, Bourchany A, De Leusse C, Marinier E, Blanchard A, Bourgeois P, Brochier-Armanet C, Bruel AL, Delarue A, Duffourd Y, Ecochard-Dugelay E, Hery G, Huet F, Gauchez P, Gonzales E, Guettier-Bouttier C, Komuta M, Lacoste C, Maudinas R, Mazodier K, Rimet Y, Rivière JB, Roquelaure B, Sigaudy S, Stephenne X, Thauvin-Robinet C, Thevenon J, Sarles J, Levy N, Badens C, Goulet O, Hugot JP, Katsanis N, Faivre L, Fabre A. Esteve C, et al. Among authors: fabre a. Am J Hum Genet. 2018 Mar 1;102(3):364-374. doi: 10.1016/j.ajhg.2018.01.009. Epub 2018 Feb 8. Am J Hum Genet. 2018. PMID: 29429573 Free PMC article.
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene.
Dimitrov G, Bamberger S, Navard C, Dreux S, Badens C, Bourgeois P, Buffat C, Hugot JP, Fabre A. Dimitrov G, et al. Among authors: fabre a. Eur J Med Genet. 2019 Oct;62(10):103712. doi: 10.1016/j.ejmg.2019.103712. Epub 2019 Jul 2. Eur J Med Genet. 2019. PMID: 31276831
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
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