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428 results

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Page 1
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
Thomas L, Cuisset L, Papon JF, Tamalet A, Pin I, Abou Taam R, Faucon C, Montantin G, Tissier S, Duquesnoy P, Dastot-Le Moal F, Copin B, Carion N, Louis B, Chantot-Bastaraud S, Siffroi JP, Mitri R, Coste A, Escudier E, Thouvenin G, Amselem S, Legendre M. Thomas L, et al. Among authors: legendre m. J Med Genet. 2024 Feb 26:jmg-2023-109700. doi: 10.1136/jmg-2023-109700. Online ahead of print. J Med Genet. 2024. PMID: 38408845
Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant.
Soreze Y, Nathan N, Jegard J, Hervieux E, Clermidi P, Sileo C, Louvrier C, Legendre M, Coulomb L'Herminé A. Soreze Y, et al. Among authors: legendre m. Neonatology. 2024;121(1):133-136. doi: 10.1159/000534076. Epub 2023 Nov 30. Neonatology. 2024. PMID: 38035569
The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network.
Cassibba J, Epaud R, Berteloot L, Aberbache S, Bitton L, Fletcher C, Fleury M, Delestrain C, Corvol H, de Becdelièvre A, Borie R, Legendre M, Coulomb l'Herminé A, Louvrier C, Lustremant C, Sari Hassoun M, Sileo C, Hadchouel A, Nathan N. Cassibba J, et al. Among authors: legendre m. Pediatr Pulmonol. 2024 Feb;59(2):417-425. doi: 10.1002/ppul.26765. Epub 2023 Nov 22. Pediatr Pulmonol. 2024. PMID: 37991126
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Boursier A, Boudry A, Mitchell V, Loyens A, Rives N, Moerman A, Thomas L, Escudier E, Toure A, Whitfield M, Coutton C, Martinez G, Ray PF, Kherraf ZE, Viville S, Legendre M, Smol T, Robin G, Barbotin AL. Boursier A, et al. Among authors: legendre m. Reprod Biomed Online. 2023 Nov;47(5):103328. doi: 10.1016/j.rbmo.2023.103328. Epub 2023 Aug 7. Reprod Biomed Online. 2023. PMID: 37742467
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: legendre m. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
High risk of lung cancer in surfactant-related gene variant carriers.
Brudon A, Legendre M, Mageau A, Bermudez J, Bonniaud P, Bouvry D, Cadranel J, Cazes A, Crestani B, Dégot T, Delestrain C, Diesler R, Epaud R, Philippot Q, Théou-Anton N, Kannengiesser C, Ba I, Debray MP, Fanen P, Manali E, Papiris S, Nathan N, Amselem S, Gondouin A, Guillaumot A, Andréjak C, Jouneau S, Beltramo G, Uzunhan Y, Galodé F, Westeel V, Mehdaoui A, Hirschi S, Leroy S, Marchand-Adam S, Nunes H, Picard C, Prévot G, Reynaud-Gaubert M, De Vuyst P, Wemeau L, Defossez G, Zalcman G, Cottin V, Borie R; OrphaLung network. Brudon A, et al. Among authors: legendre m. Eur Respir J. 2024 May 2;63(5):2301809. doi: 10.1183/13993003.01809-2023. Print 2024 May. Eur Respir J. 2024. PMID: 38575158 Free PMC article.
428 results