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

Year Number of Results
2001 2
2002 1
2003 1
2004 2
2005 1
2006 1
2007 4
2008 1
2009 1
2010 2
2012 2
2013 1
2014 1
2015 1
2016 3
2017 1
2020 1
2022 3
2023 3
2024 1

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32 results

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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: dastot le moal f. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
RNF213-associated urticarial lesions with hypercytokinemia.
Louvrier C, Awad F, Cosnes A, El Khouri E, Assrawi E, Daskalopoulou A, Copin B, Bocquet H, Chantot Bastaraud S, Arenas Garcia A, Dastot Le Moal F, De La Grange P, Duquesnoy P, Guerrera CI, Piterboth W, Ortonne N, Chosidow O, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: dastot le moal f. J Allergy Clin Immunol. 2022 Dec;150(6):1545-1555. doi: 10.1016/j.jaci.2022.06.016. Epub 2022 Jun 30. J Allergy Clin Immunol. 2022. PMID: 35780935 Free article.
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis.
Desroziers T, Prévot G, Coulomb A, Nau V, Dastot-Le Moal F, Duquesnoy P, Héry M, Le Borgne A, Amselem S, Legendre M, Nathan N. Desroziers T, et al. Among authors: dastot le moal f. Eur J Hum Genet. 2023 Sep;31(9):1083-1087. doi: 10.1038/s41431-023-01413-w. Epub 2023 Jun 28. Eur J Hum Genet. 2023. PMID: 37380697 Free article.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Louvrier C, El Khouri E, Grall Lerosey M, Quartier P, Guerrot AM, Bader Meunier B, Chican J, Mohammad M, Assrawi E, Daskalopoulou A, Arenas Garcia A, Copin B, Piterboth W, Dastot Le Moal F, Karabina SA, Amselem S, Giurgea I. Louvrier C, et al. Among authors: dastot le moal f. Arthritis Rheumatol. 2023 Mar;75(3):468-474. doi: 10.1002/art.42354. Epub 2022 Dec 28. Arthritis Rheumatol. 2023. PMID: 36122175
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium; Boileau C, Crestani B, Dieudé P. Juge PA, et al. Among authors: dastot le moal f. Eur Respir J. 2017 May 11;49(5):1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May. Eur Respir J. 2017. PMID: 28495692 Free article.
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.
Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A. Nathan N, et al. Among authors: dastot le moal f. Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19. Hum Mol Genet. 2016. PMID: 26792177
Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.
Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S. Jéru I, et al. Among authors: dastot le moal f. Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727. Arthritis Rheumatol. 2014. PMID: 24891336
32 results