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Pathogenesis of chronic rhinosinusitis with nasal polyps: role of IL-6 in airway epithelial cell dysfunction.

Bequignon E, Mangin D, Bécaud J, Pasquier J, Angely C, Bottier M, Escudier E, Isabey D, Filoche M, Louis B, Papon JF, Coste A.

J Transl Med. 2020 Mar 24;18(1):136. doi: 10.1186/s12967-020-02309-9.


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, Margherita De Santi M, 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; These authors represent a larger guideline development group acknowledged below*.

Eur Respir J. 2020 Feb 14. pii: 1900725. doi: 10.1183/13993003.00725-2019. [Epub ahead of print]


Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD.

Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE.

ERJ Open Res. 2020 Feb 10;6(1). pii: 00237-2019. doi: 10.1183/23120541.00237-2019. eCollection 2020 Jan.


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.

Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23.


Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B.

J Med Genet. 2020 Apr;57(4):237-244. doi: 10.1136/jmedgenet-2019-106424. Epub 2019 Nov 26.


Follow-Up and Management of Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia: Review and Experience of Our Reference Centers.

Bequignon E, Dupuy L, Escabasse V, Zerah-Lancner F, Bassinet L, Honoré I, Legendre M, Devars du Mayne M, Crestani B, Escudier E, Coste A, Papon JF, Maître B.

J Clin Med. 2019 Sep 19;8(9). pii: E1495. doi: 10.3390/jcm8091495.


Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M.

Hum Mutat. 2020 Jan;41(1):115-121. doi: 10.1002/humu.23905. Epub 2019 Sep 15.


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.

Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6.


A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia.

Benjamin AT, Ganesh R, Gaspar BL, Lucas J, Jackson C, Legendre M, Mani R, Escudier E.

Indian J Pediatr. 2019 Jul;86(7):664-665. doi: 10.1007/s12098-019-02970-z. Epub 2019 May 14. No abstract available.


Critical Evaluation of Sinonasal Disease in 64 Adults with Primary Ciliary Dyskinesia.

Bequignon E, Dupuy L, Zerah-Lancner F, Bassinet L, Honoré I, Legendre M, Devars du Mayne M, Escabasse V, Crestani B, Maître B, Escudier E, Coste A, Papon JF.

J Clin Med. 2019 May 7;8(5). pii: E619. doi: 10.3390/jcm8050619.


FcRn-Dependent Transcytosis of Monoclonal Antibody in Human Nasal Epithelial Cells In Vitro: A Prerequisite for a New Delivery Route for Therapy?

Bequignon E, Dhommée C, Angely C, Thomas L, Bottier M, Escudier E, Isabey D, Coste A, Louis B, Papon JF, Gouilleux-Gruart V.

Int J Mol Sci. 2019 Mar 19;20(6). pii: E1379. doi: 10.3390/ijms20061379.


Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Bustamante-Marin XM, Yin WN, Sears PR, Werner ME, Brotslaw EJ, Mitchell BJ, Jania CM, Zeman KL, Rogers TD, Herring LE, Refabért L, Thomas L, Amselem S, Escudier E, Legendre M, Grubb BR, Knowles MR, Zariwala MA, Ostrowski LE.

Am J Hum Genet. 2019 Feb 7;104(2):229-245. doi: 10.1016/j.ajhg.2018.12.009. Epub 2019 Jan 18.


Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, Khouri EE, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2019 Mar 15;28(6):1052. doi: 10.1093/hmg/ddy368. No abstract available.


Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

Fassad MR, Shoemark A, Legendre M, Hirst RA, Koll F, le Borgne P, Louis B, Daudvohra F, Patel MP, Thomas L, Dixon M, Burgoyne T, Hayes J, Nicholson AG, Cullup T, Jenkins L, Carr SB, Aurora P, Lemullois M, Aubusson-Fleury A, Papon JF, O'Callaghan C, Amselem S, Hogg C, Escudier E, Tassin AM, Mitchison HM.

Am J Hum Genet. 2018 Dec 6;103(6):984-994. doi: 10.1016/j.ajhg.2018.10.016. Epub 2018 Nov 21.


Modelling the association between fibrinogen concentration on admission and mortality in patients with massive transfusion after severe trauma: an analysis of a large regional database.

Bouzat P, Ageron FX, Charbit J, Bobbia X, Deras P, Nugues JBD, Escudier E, Marcotte G, Leone M, David JS.

Scand J Trauma Resusc Emerg Med. 2018 Jul 9;26(1):55. doi: 10.1186/s13049-018-0523-0.


Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study.

Fuger M, Aupiais C, Thouvenin G, Taytard J, Tamalet A, Escudier E, Boizeau P, Corvol H, Beydon N.

Respir Physiol Neurobiol. 2018 May;251:1-7. doi: 10.1016/j.resp.2018.01.010. Epub 2018 Jan 31.


Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034.


Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.

Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H, Jaspers M, Lorent N, Coste A, Escudier E, Amselem S, Maitre B, Legendre M, Christin-Maitre S.

Eur Respir J. 2017 Nov 9;50(5). pii: 1700314. doi: 10.1183/13993003.00314-2017. Print 2017 Nov. No abstract available. Erratum in: Eur Respir J. 2017 Dec 14;50(6):.


Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.


A new index for characterizing micro-bead motion in a flow induced by ciliary beating: Part I, experimental analysis.

Bottier M, Blanchon S, Pelle G, Bequignon E, Isabey D, Coste A, Escudier E, Grotberg JB, Papon JF, Filoche M, Louis B.

PLoS Comput Biol. 2017 Jul 14;13(7):e1005605. doi: 10.1371/journal.pcbi.1005605. eCollection 2017 Jul.


Epidural analgesia in critically ill patients with acute pancreatitis: the multicentre randomised controlled EPIPAN study protocol.

Bulyez S, Pereira B, Caumon E, Imhoff E, Roszyk L, Bernard L, Bühler L, Heidegger C, Jaber S, Lefrant JY, Chabanne R, Bertrand PM, Laterre PF, Guerci P, Danin PE, Escudier E, Sossou A, Morand D, Sapin V, Constantin JM, Jabaudon M; EPIPAN Study Group; AzuRea network.

BMJ Open. 2017 May 29;7(5):e015280. doi: 10.1136/bmjopen-2016-015280. Erratum in: BMJ Open. 2018 Feb 10;8(2):e015280corr1.


The authors reply.

Tanaka S, Escudier E, Hamada S, Harrois A, Leblanc PE, Vicaut E, Duranteau J.

Crit Care Med. 2017 Apr;45(4):e459-e460. doi: 10.1097/CCM.0000000000002278. No abstract available.


X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.


European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.

Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE.

Eur Respir J. 2017 Jan 4;49(1). pii: 1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan.


Effect of RBC Transfusion on Sublingual Microcirculation in Hemorrhagic Shock Patients: A Pilot Study.

Tanaka S, Escudier E, Hamada S, Harrois A, Leblanc PE, Vicaut E, Duranteau J.

Crit Care Med. 2017 Feb;45(2):e154-e160. doi: 10.1097/CCM.0000000000002064.


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.

Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.


Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia.

Frija-Masson J, Bassinet L, Honoré I, Dufeu N, Housset B, Coste A, Papon JF, Escudier E, Burgel PR, Maître B.

Thorax. 2017 Feb;72(2):154-160. doi: 10.1136/thoraxjnl-2015-207891. Epub 2016 Jul 5.


Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M.

Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12.


RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M.

Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.


Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children.

Beydon N, Chambellan A, Alberti C, de Blic J, Clément A, Escudier E, Le Bourgeois M.

Pediatr Pulmonol. 2015 Dec;50(12):1374-82. doi: 10.1002/ppul.23167. Epub 2015 Mar 2.


A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.

Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC.

J Proteome Res. 2015 Jan 2;14(1):567-77. doi: 10.1021/pr501003q. Epub 2014 Nov 12.


Proteomic analysis of nasal epithelial cells from cystic fibrosis patients.

Jeanson L, Guerrera IC, Papon JF, Chhuon C, Zadigue P, Prulière-Escabasse V, Amselem S, Escudier E, Coste A, Edelman A.

PLoS One. 2014 Sep 30;9(9):e108671. doi: 10.1371/journal.pone.0108671. eCollection 2014.


Airway cell involvement in intermittent hypoxia-induced airway inflammation.

Philippe C, Boussadia Y, Prulière-Escabasse V, Papon JF, Clérici C, Isabey D, Coste A, Escudier E, d'Ortho MP.

Sleep Breath. 2015 Mar;19(1):297-306. doi: 10.1007/s11325-014-1019-4. Epub 2014 Jul 4.


Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S.

Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.


Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.

Vallet C, Escudier E, Roudot-Thoraval F, Blanchon S, Fauroux B, Beydon N, Boulé M, Vojtek AM, Amselem S, Clément A, Tamalet A.

Eur J Pediatr. 2013 Aug;172(8):1053-60. doi: 10.1007/s00431-013-1996-5. Epub 2013 Apr 10.


CFTR dysfunction induces vascular endothelial growth factor synthesis in airway epithelium.

Martin C, Coolen N, Wu Y, Thévenot G, Touqui L, Prulière-Escabasse V, Papon JF, Coste A, Escudier E, Dusser DJ, Fajac I, Burgel PR.

Eur Respir J. 2013 Dec;42(6):1553-62. doi: 10.1183/09031936.00164212. Epub 2013 Mar 21.


Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S.

Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003.


Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.

Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner F, Vojtek AM, Blanchon S, Crestani B, Amselem S, Coste A, Housset B, Escudier E, Louis B.

Orphanet J Rare Dis. 2012 Oct 11;7:78. doi: 10.1186/1750-1172-7-78.


OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T.

Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. No abstract available.


Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S.

J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867.


Longitudinal lung function and structural changes in children with primary ciliary dyskinesia.

Magnin ML, Cros P, Beydon N, Mahloul M, Tamalet A, Escudier E, Clément A, Le Pointe HD, Blanchon S.

Pediatr Pulmonol. 2012 Aug;47(8):816-25. doi: 10.1002/ppul.22577. Epub 2012 May 8.


Oxidative stress induces unfolding protein response and inflammation in nasal polyposis.

Jeanson L, Kelly M, Coste A, Guerrera IC, Fritsch J, Nguyen-Khoa T, Baudouin-Legros M, Papon JF, Zadigue P, Prulière-Escabasse V, Amselem S, Escudier E, Edelman A.

Allergy. 2012 Mar;67(3):403-12. doi: 10.1111/j.1398-9995.2011.02769.x. Epub 2011 Dec 22.


CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S.

Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5.


Otologic features in children with primary ciliary dyskinesia.

Prulière-Escabasse V, Coste A, Chauvin P, Fauroux B, Tamalet A, Garabedian EN, Escudier E, Roger G.

Arch Otolaryngol Head Neck Surg. 2010 Nov;136(11):1121-6. doi: 10.1001/archoto.2010.183.


Effect of neutrophil elastase and its inhibitor EPI-hNE4 on transepithelial sodium transport across normal and cystic fibrosis human nasal epithelial cells.

Prulière-Escabasse V, Clerici C, Vuagniaux G, Coste A, Escudier E, Planès C.

Respir Res. 2010 Oct 8;11:141. doi: 10.1186/1465-9921-11-141.


Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Papon JF, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek AM, Kaplan J, Rozet JM, Escudier E.

J Med Genet. 2010 Dec;47(12):829-34. doi: 10.1136/jmg.2010.077883. Epub 2010 Aug 30.


Rhinitis in patients treated with a combination of an mTOR inhibitor and an EGFR inhibitor.

Prulière-Escabasse V, Gomez-Roca C, Escudier E, Coste A, Besse B, Massard C, Soria JC.

Onkologie. 2010;33(7):401-2. doi: 10.1159/000315757. Epub 2010 Jun 22. No abstract available.


Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S.

Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008.


A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia.

Papon JF, Coste A, Roudot-Thoraval F, Boucherat M, Roger G, Tamalet A, Vojtek AM, Amselem S, Escudier E.

Eur Respir J. 2010 May;35(5):1057-63. doi: 10.1183/09031936.00046209. Epub 2009 Oct 19.


CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T.

Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.

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