Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S. El Khouri E, et al. Among authors: faucon c. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022. Am J Hum Genet. 2016. PMID: 27486783 Free PMC article.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M. Whitfield M, et al. Among authors: faucon c. Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178125 Free PMC article.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Touré A, Mitchell V, Amselem S, Legendre M. Thomas L, et al. Among authors: faucon c. Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23. Am J Hum Genet. 2020. PMID: 31978331 Free PMC article.
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: faucon c. J Med Genet. 2024 May 21;61(6):595-604. doi: 10.1136/jmg-2023-109700. J Med Genet. 2024. PMID: 38408845
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: faucon c. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826 Free PMC article.
Cyclin O controls entry into the cell-cycle variant required for multiciliated cell differentiation.
Khoury Damaa M, Serizay J, Balagué R, Boudjema AR, Faucourt M, Delgehyr N, Goh KJ, Lu H, Tan EK, James CT, Faucon C, Mitri R, Bracht DC, Bingle CD, Dunn NR, Arnold SJ, Zaragosi LE, Barbry P, Koszul R, Omran H, Gil-Gómez G, Escudier E, Legendre M, Roy S, Spassky N, Meunier A. Khoury Damaa M, et al. Among authors: faucon c. Cell Rep. 2025 Jan 28;44(1):115117. doi: 10.1016/j.celrep.2024.115117. Epub 2024 Dec 30. Cell Rep. 2025. PMID: 39740663 Free article.
Prognostic factors for patients with cancer-associated dermatomyositis: a retrospective, multicentre cohort study of 73 patients.
Teboul A, Allenbach Y, Tubach F, Belin L, Cassius C, Demortier J, Dossier A, Faucon C, Kasser C, Mekinian A, Monseau G, Fouchard M, Chambrelan E, Viguier M, Kluger N, Mahévas T, Bergeret B, Bachmeyer C, Lenormand C, Hotz C, Diaz E, Cordel N, Benveniste O, Bessis D, Bouaziz JD, Chasset F. Teboul A, et al. Among authors: faucon c. Rheumatology (Oxford). 2025 May 1;64(5):2970-2978. doi: 10.1093/rheumatology/keae629. Rheumatology (Oxford). 2025. PMID: 39589730
The Edmonton Frail Scale as a screening score for frailty in oncogeriatrics.
De Schrevel J, Faucon C, Sibille FX, Dumont L, Herrmann FR, Rouvière H, De Breucker S. De Schrevel J, et al. Among authors: faucon c. Front Med (Lausanne). 2024 Sep 30;11:1466366. doi: 10.3389/fmed.2024.1466366. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39403280 Free PMC article.
24 results