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Items: 1 to 50 of 337

1.

Anti-vimentin antibodies: a unique antibody class associated with therapy-resistant lupus nephritis.

Kinloch AJ, Cascino MD, Dai J, Bermea RS, Ko K, Vesselits M, Dragone LL, Mor Vaknin N, Legendre M, Markovitz DM, Okoreeh MK, Townsend MJ, Clark MR.

Lupus. 2020 Mar 26:961203320913606. doi: 10.1177/0961203320913606. [Epub ahead of print] No abstract available.

PMID:
32216516
2.

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.

3.

Characterization of Mollivirus kamchatka, the first modern representative of the proposed Molliviridae family of giant viruses.

Christo-Foroux E, Alempic JM, Lartigue A, Santini S, Labadie K, Legendre M, Abergel C, Claverie JM.

J Virol. 2020 Jan 29. pii: JVI.01997-19. doi: 10.1128/JVI.01997-19. [Epub ahead of print]

PMID:
31996429
4.

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.

PMID:
31978331
5.

A molecularly engineered antiviral banana lectin inhibits fusion and is efficacious against influenza virus infection in vivo.

Covés-Datson EM, King SR, Legendre M, Gupta A, Chan SM, Gitlin E, Kulkarni VV, Pantaleón García J, Smee DF, Lipka E, Evans SE, Tarbet EB, Ono A, Markovitz DM.

Proc Natl Acad Sci U S A. 2020 Jan 28;117(4):2122-2132. doi: 10.1073/pnas.1915152117. Epub 2020 Jan 13.

6.

Oxaliplatin-Induced Evans Syndrome: A Possible Dual Mechanism.

Rousseau C, Nguyen TN, Rebibou JM, Bastie JN, Audia S, Darut-Jouve A, Legendre M.

Clin Colorectal Cancer. 2020 Mar;19(1):57-60. doi: 10.1016/j.clcc.2019.11.001. Epub 2019 Nov 26. No abstract available.

PMID:
31883972
7.

Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study.

Peycelon M, Lelong N, Carlier L, Monn FM, De Chalus A, Bonnard A, Rachid M, Houang M, Paye-Jaouen A, Ali L, Lecourbe A, Grapin C, Audry G, Legendre M, Muller F, Dreux S, El Ghoneimi A, Benachi A, Khoshnood B, Siffroi JP.

J Urol. 2019 Dec 19:101097JU0000000000000708. doi: 10.1097/JU.0000000000000708. [Epub ahead of print]

PMID:
31855125
8.

[Premature immune senescence and chronic kidney disease: Update and perspectives].

Crépin T, Legendre M, Courivaud C, Vauchy C, Laheurte C, Rebibou JM, Saas P, Ducloux D, Bamoulid J.

Nephrol Ther. 2020 Feb;16(1):9-18. doi: 10.1016/j.nephro.2019.04.005. Epub 2019 Dec 14. French.

PMID:
31848067
9.

Exploration of the propagation of transpovirons within Mimiviridae reveals a unique example of commensalism in the viral world.

Jeudy S, Bertaux L, Alempic JM, Lartigue A, Legendre M, Belmudes L, Santini S, Philippe N, Beucher L, Biondi EG, Juul S, Turner DJ, Couté Y, Claverie JM, Abergel C.

ISME J. 2020 Mar;14(3):727-739. doi: 10.1038/s41396-019-0565-y. Epub 2019 Dec 10.

10.

NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.

Louvrier C, Assrawi E, El Khouri E, Melki I, Copin B, Bourrat E, Lachaume N, Cador-Rousseau B, Duquesnoy P, Piterboth W, Awad F, Jumeau C, Legendre M, Grateau G, Georgin-Lavialle S, Karabina SA, Amselem S, Giurgea I.

J Allergy Clin Immunol. 2019 Dec 6. pii: S0091-6749(19)31628-8. doi: 10.1016/j.jaci.2019.11.035. [Epub ahead of print]

PMID:
31816408
11.

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis.

Borie R, Kannengiesser C, Gouya L, Dupin C, Amselem S, Ba I, Bunel V, Bonniaud P, Bouvry D, Cazes A, Clement A, Debray MP, Dieude P, Epaud R, Fanen P, Lainey E, Legendre M, Plessier A, Sicre de Fontbrune F, Wemeau-Stervinou L, Cottin V, Nathan N, Crestani B.

Orphanet J Rare Dis. 2019 Dec 3;14(1):280. doi: 10.1186/s13023-019-1256-5.

12.

The NLRP3 p.A441V Mutation in NLRP3-AID Pathogenesis: Functional Consequences, Phenotype-Genotype Correlations and Evidence for a Recurrent Mutational Event.

Awad F, Assrawi E, Jumeau C, Odent S, Despert V, Cam G, Perdriger A, Louvrier C, Cobret L, Copin B, Chantot-Bastaraud S, Duquesnoy P, Piterboth W, Le Jeunne C, Quenum-Miraillet G, Siffroi JP, Georgin-Lavialle S, Grateau G, Legendre M, Giurgea I, Karabina SA, Amselem S.

ACR Open Rheumatol. 2019 Jun 6;1(4):267-276. doi: 10.1002/acr2.1039. eCollection 2019 Jun.

13.

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.

PMID:
31772028
14.

Scleroderma Renal Crisis in a Systemic Sclerosis With Anti-PM/Scl Antibodies.

Jacquier M, Mousson C, Rebibou JM, Lakomy D, François S, Martin L, Funes De La Vega M, Legendre M.

Kidney Int Rep. 2019 Jul 10;4(10):1499-1502. doi: 10.1016/j.ekir.2019.07.002. eCollection 2019 Oct. No abstract available.

15.

Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage.

Frémond ML, Legendre M, Fayon M, Clement A, Filhol-Blin E, Richard N, Berdah L, Roullaud S, Rice GI, Bondet V, Duffy D, Sileo C, Ducou le Pointe H, Begueret H, Coulomb A, Neven B, Amselem S, Crow Y, Nathan N.

Thorax. 2020 Jan;75(1):92-95. doi: 10.1136/thoraxjnl-2019-213892. Epub 2019 Oct 30.

PMID:
31666386
16.

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.

17.

Fusobacterium nucleatum bacteremia with pneumopathy in a patient receiving eculizumab: A case report.

Seibel J, Rebibou JM, Bonnot PH, Bernard A, Zanetta G, Tetu J, Legendre M.

Anaerobe. 2020 Feb;61:102099. doi: 10.1016/j.anaerobe.2019.102099. Epub 2019 Sep 9.

PMID:
31513845
18.

Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria.

Assrawi E, Louvrier C, Lepelletier C, Georgin-Lavialle S, Bouaziz JD, Awad F, Moinet F, Moguelet P, Vignon-Pennamen MD, Piterboth W, Jumeau C, Cobret L, El Khouri E, Copin B, Duquesnoy P, Legendre M, Grateau G, Karabina SA, Amselem S, Giurgea I.

J Invest Dermatol. 2020 Apr;140(4):791-798.e2. doi: 10.1016/j.jid.2019.06.153. Epub 2019 Sep 9.

PMID:
31513803
19.

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.

PMID:
31469207
20.

COPA Syndrome as a Cause of Lupus Nephritis.

Boulisfane-El Khalifi S, Viel S, Lahoche A, Frémond ML, Lopez J, Lombard C, Dubos F, Reumaux H, Gnemmi V, Legendre M, Crow YJ, Thumerelle C, Belot A.

Kidney Int Rep. 2019 Apr 28;4(8):1187-1189. doi: 10.1016/j.ekir.2019.04.014. eCollection 2019 Aug. No abstract available.

21.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31.

PMID:
31363182
22.

Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood.

Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L'Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA.

ERJ Open Res. 2019 Jul 22;5(3). pii: 00066-2019. doi: 10.1183/23120541.00066-2019. eCollection 2019 Jul.

23.

Inhibition of Ebola Virus by a Molecularly Engineered Banana Lectin.

Covés-Datson EM, Dyall J, DeWald LE, King SR, Dube D, Legendre M, Nelson E, Drews KC, Gross R, Gerhardt DM, Torzewski L, Postnikova E, Liang JY, Ban B, Shetty J, Hensley LE, Jahrling PB, Olinger GG Jr, White JM, Markovitz DM.

PLoS Negl Trop Dis. 2019 Jul 29;13(7):e0007595. doi: 10.1371/journal.pntd.0007595. eCollection 2019 Jul.

24.

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation.

Majdoub H, Amselem S, Legendre M, Rath S, Bercovich D, Tenenbaum-Rakover Y.

Front Endocrinol (Lausanne). 2019 Jun 27;10:381. doi: 10.3389/fendo.2019.00381. eCollection 2019.

25.

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savaş Erdeve Ş, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Şıklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M.

Hum Mutat. 2019 Nov;40(11):2033-2043. doi: 10.1002/humu.23847. Epub 2019 Aug 6.

PMID:
31231873
26.

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.

27.

Secreted nuclear protein DEK regulates hematopoiesis through CXCR2 signaling.

Capitano ML, Mor-Vaknin N, Saha AK, Cooper S, Legendre M, Guo H, Contreras-Galindo R, Kappes F, Sartor MA, Lee CT, Huang X, Markovitz DM, Broxmeyer HE.

J Clin Invest. 2019 May 20;129(6):2555-2570. doi: 10.1172/JCI127460. eCollection 2019 May 20.

28.

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.

PMID:
31089940
29.

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.

30.

A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation).

Fattori A, Ohana M, Hirschi S, Kessler R, Santelmo N, Nathan N, Chenard MP, Raymond S, Legendre M, Calabrese F.

Chest. 2019 Apr;155(4):e91-e96. doi: 10.1016/j.chest.2018.12.015.

PMID:
30955586
31.

Pandoravirus Celtis Illustrates the Microevolution Processes at Work in the Giant Pandoraviridae Genomes.

Legendre M, Alempic JM, Philippe N, Lartigue A, Jeudy S, Poirot O, Ta NT, Nin S, Couté Y, Abergel C, Claverie JM.

Front Microbiol. 2019 Mar 8;10:430. doi: 10.3389/fmicb.2019.00430. eCollection 2019.

32.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM.

Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28.

33.

Sperm motility of the Nile tilapia (Oreochromis niloticus): Effects of temperature on the swimming characteristics.

Dzyuba B, Legendre M, Baroiller JF, Cosson J.

Anim Reprod Sci. 2019 Mar;202:65-72. doi: 10.1016/j.anireprosci.2019.01.010. Epub 2019 Jan 29.

PMID:
30717995
34.

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.

35.

[Giant viruses that create their own genes].

Claverie JM, Abergel C, Legendre M.

Med Sci (Paris). 2018 Dec;34(12):1087-1091. doi: 10.1051/medsci/2018300. Epub 2019 Jan 9. Review. French.

36.

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.

37.

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF, Klammt J, Amselem S, Pfäffle HM, Legendre M, Sobrier ML, Luton MP, Child CJ, Jones C, Zimmermann AG, Quigley CA, Cutler GB Jr, Deal CL, Lebl J, Rosenfeld RG, Parks JS, Pfäffle RW.

EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25. No abstract available.

38.

Uraemia-induced immune senescence and clinical outcomes in chronic kidney disease patients.

Crépin T, Legendre M, Carron C, Vachey C, Courivaud C, Rebibou JM, Ferrand C, Laheurte C, Vauchy C, Gaiffe E, Saas P, Ducloux D, Bamoulid J.

Nephrol Dial Transplant. 2018 Sep 6. doi: 10.1093/ndt/gfy276. [Epub ahead of print]

PMID:
30202981
39.

Experimentally-enhanced perceptions of meaning confer resilience to the interpersonal adversity implicated in suicide risk.

Collins KRL, Legendre MN, Stritzke WGK, Page AC.

J Behav Ther Exp Psychiatry. 2018 Dec;61:142-149. doi: 10.1016/j.jbtep.2018.07.004. Epub 2018 Jul 29.

PMID:
30081255
40.

ESRD-associated immune phenotype depends on dialysis modality and iron status: clinical implications.

Ducloux D, Legendre M, Bamoulid J, Rebibou JM, Saas P, Courivaud C, Crepin T.

Immun Ageing. 2018 Jul 17;15:16. doi: 10.1186/s12979-018-0121-z. eCollection 2018.

41.

Unexpected invasion of miniature inverted-repeat transposable elements in viral genomes.

Zhang HH, Zhou QZ, Wang PL, Xiong XM, Luchetti A, Raoult D, Levasseur A, Santini S, Abergel C, Legendre M, Drezen JM, Béliveau C, Cusson M, Jiang SH, Bao HO, Sun C, Bureau TE, Cheng PF, Han MJ, Zhang Z, Zhang XG, Dai FY.

Mob DNA. 2018 Jun 18;9:19. doi: 10.1186/s13100-018-0125-4. eCollection 2018.

42.

Diversity and evolution of the emerging Pandoraviridae family.

Legendre M, Fabre E, Poirot O, Jeudy S, Lartigue A, Alempic JM, Beucher L, Philippe N, Bertaux L, Christo-Foroux E, Labadie K, Couté Y, Abergel C, Claverie JM.

Nat Commun. 2018 Jun 11;9(1):2285. doi: 10.1038/s41467-018-04698-4.

43.

Reliability of two social cognition tests: The combined stories test and the social knowledge test.

Thibaudeau É, Cellard C, Legendre M, Villeneuve K, Achim AM.

Psychiatry Res. 2018 Apr;262:63-69. doi: 10.1016/j.psychres.2018.01.026. Epub 2018 Jan 12.

PMID:
29407571
44.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP.

Sex Dev. 2017;11(5-6):293-297. doi: 10.1159/000485909. Epub 2018 Jan 13.

PMID:
29332064
45.

Can 'Hebb' Be Distracted? Testing the Susceptibility of Sequence Learning to Auditory Distraction.

Vachon F, Marois A, Lévesque-Dion M, Legendre M, Saint-Aubin J.

J Cogn. 2018 Jan 10;2(1):4. doi: 10.5334/joc.8.

46.

High Levels of DEK Autoantibodies in Sera of Patients With Polyarticular Juvenile Idiopathic Arthritis and With Early Disease Flares Following Cessation of Anti-Tumor Necrosis Factor Therapy.

Mor-Vaknin N, Rivas M, Legendre M, Mohan S, Yuanfan Y, Mau T, Johnson A, Huang B, Zhao L, Kimura Y, Spalding SJ, Morris PW, Gottlieb BS, Onel K, Olson JC, Edelheit BS, Shishov M, Jung LK, Cassidy EA, Prahalad S, Passo MH, Beukelman T, Mehta J, Giannini EH, Adams BS, Lovell DJ, Markovitz DM.

Arthritis Rheumatol. 2018 Apr;70(4):594-605. doi: 10.1002/art.40404. Epub 2018 Feb 22.

47.

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F.

Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18.

48.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.

Legendre M, Abadie V, Attié-Bitach T, Philip N, Busa T, Bonneau D, Colin E, Dollfus H, Lacombe D, Toutain A, Blesson S, Julia S, Martin-Coignard D, Geneviève D, Leheup B, Odent S, Jouk PS, Mercier S, Faivre L, Vincent-Delorme C, Francannet C, Naudion S, Mathieu-Dramard M, Delrue MA, Goldenberg A, Héron D, Parent P, Touraine R, Layet V, Sanlaville D, Quélin C, Moutton S, Fradin M, Jacquette A, Sigaudy S, Pinson L, Sarda P, Guerrot AM, Rossi M, Masurel-Paulet A, El Chehadeh S, Piguel X, Rodriguez-Ballesteros M, Ragot S, Lyonnet S, Bilan F, Gilbert-Dussardier B.

Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):417-430. doi: 10.1002/ajmg.c.31591. Epub 2017 Nov 27.

PMID:
29178447
49.

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):.

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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.

PMID:
29121203

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