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Page 1
Surfactant protein B deficiency: the RespiRare cohort.
Fleury M, Delestrain C, Roditis L, Perisson C, Renoux MC, Thumerelle C, Epaud R, Fletcher C, Jedidi N, Coulomb L'Hermine A, Corvol H, Ducou le Pointe H, Fanen P, Sileo C, Louvrier C, de Becdelievre A, Legendre M, Nathan N. Fleury M, et al. Among authors: thumerelle c. Thorax. 2024 Dec 6:thorax-2024-221947. doi: 10.1136/thorax-2024-221947. Online ahead of print. Thorax. 2024. PMID: 39632082
Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.
Fletcher C, Hadchouel A, Thumerelle C, Mazenq J, Fleury M, Corvol H, Jedidi N, Benhamida M, Bessaci K, Bilhouee T, Borie R, Brouard J, Cantais A, Clement A, Coutier L, Cisterne C, Cros P, Dalphin ML, Delacourt C, Deneuville E, Dubus JC, Egron C, Epaud R, Fayon M, Forgeron A, Gachelin E, Galode F, Gertini I, Giovannini-Chami L, Gourdan P, Guiddir T, Herzog A, Houdouin V, Hullo É, Jarreau PH, Labbé G, Labouret G, Ladaurade A, Le Clainche Viala L, Marguet C, Masson-Rouchaud A, Perisson C, Rames C, Reix P, Renoux MC, Roditis L, Schweitzer C, Tatopoulos A, Trioche-Eberschweiler P, Troussier F, Vigier C, Weiss L, Legendre M, Louvrier C, de Becdelievre A, Coulomb A, Sileo C, Ducou le Pointe H, Berteloot L, Delestrain C, Nathan N. Fletcher C, et al. Among authors: thumerelle c. Thorax. 2024 Aug 19;79(9):842-852. doi: 10.1136/thorax-2023-221325. Thorax. 2024. PMID: 38964860
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
COBRAPed cohort: Do sensitization patterns differentiate children with severe asthma from those with a milder disease?
Lejeune S, Bouazza N, Nicaise PR, Jolaine V, Roditis L, Marguet C, Amat F, Berger P, Fayon M, Dubus JC, Valois S, Reix P, Pellan M, Brouard J, Chiron R, Giovannini-Chami L, de Blic J, Deschildre A, Lezmi G; COBRAPed Study Group. Lejeune S, et al. Pediatr Allergy Immunol. 2024 Mar;35(3):e14112. doi: 10.1111/pai.14112. Pediatr Allergy Immunol. 2024. PMID: 38520021
Lumacaftor/Ivacaftor Population Pharmacokinetics in Pediatric Patients with Cystic Fibrosis: A First Step Toward Personalized Therapy.
Bouazza N, Urien S, Foissac F, Choupeaux L, Lui G, Froelicher Bournaud L, Rouillon S, Zheng Y, Bardin E, Stremler N, Bessaci K, Bihouee T, Coirier-Duet E, Marguet C, Deneuville E, Laurans M, Reix P, Gerardin M, Mittaine M, Epaud R, Thumerelle C, Weiss L, Berthaud R, Semeraro M, Treluyer JM, Benaboud S, Sermet-Gaudelus I. Bouazza N, et al. Among authors: thumerelle c. Clin Pharmacokinet. 2024 Mar;63(3):333-342. doi: 10.1007/s40262-023-01342-3. Epub 2024 Feb 4. Clin Pharmacokinet. 2024. PMID: 38310629
126 results