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

Year Number of Results
2002 3
2004 1
2005 1
2006 3
2007 5
2008 1
2009 3
2010 4
2011 1
2012 4
2013 3
2014 2
2015 3
2016 3
2017 5
2018 4
2019 9
2020 6
2021 2
2022 3
2023 1
2024 2

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63 results

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Page 1
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: escudier e. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
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: escudier e. 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
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: escudier e. 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
Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study.
Alexandru M, de Boissieu P, Benoudiba F, Moustarhfir M, Kim S, Bequignon É, Honoré I, Garcia G, Mitri-Frangieh R, Legendre M, Crestani B, Taillé C, Escudier E, Maitre B, Papon JF, Nevoux J. Alexandru M, et al. Among authors: escudier e. J Clin Med. 2022 Aug 31;11(17):5163. doi: 10.3390/jcm11175163. J Clin Med. 2022. PMID: 36079093 Free PMC article.
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I, Al-Harthi N, Mani R, Montantin G, Tissier S, Lagha R, Ben Abdallah F, Hassan MM, Alhomrani M, Gaber A, Alsanie WF, Ouali H, Jambi FA, Almaghamsi TM, Alqarni NA, Alfarsi NA, Kashgari K, Al-Zahrani HJ, Al-Shamary ZA, Al-Harbi A, Amselem S, Escudier E, Legendre M. Mabrouk I, et al. Among authors: escudier e. J Hum Genet. 2022 Jul;67(7):381-386. doi: 10.1038/s10038-021-01006-9. Epub 2022 Jan 20. J Hum Genet. 2022. PMID: 35046476
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, Bon ICM, Brandsma J, Burgel PR, Carlsson G, Carr SB, Carroll M, Edwards M, Escudier E, Honoré I, Hunt D, Jouvion G, Loebinger MR, Maitre B, Morris-Rosendahl D, Papon JF, Parsons CM, Patel MP, Thomas NS, Thouvenin G, Walker WT, Wilson R, Hogg C, Mitchison HM, Lucas JS. Shoemark A, et al. Among authors: escudier e. Eur Respir J. 2021 Aug 5;58(2):2002359. doi: 10.1183/13993003.02359-2020. Print 2021 Aug. Eur Respir J. 2021. PMID: 33479112 Free article.
International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria).
Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, De Santi MM, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E; representing the BEAT-PCD Network Guideline Development Group. Shoemark A, et al. Among authors: escudier e. Eur Respir J. 2020 Apr 16;55(4):1900725. doi: 10.1183/13993003.00725-2019. Print 2020 Apr. Eur Respir J. 2020. PMID: 32060067 Free article.
63 results