Publications - Page 28 sur 43 - RespiFIL - Filière de santé des maladies respiratoires rares

Voici les publications scientifiques relatives aux maladies respiratoires rares auxquelles les membres de la filière ont contribué, classées par groupes de pathologies (depuis juillet 2021).

Fibrose pulmonaire - FPI 31/08/23
European Respiratory Society Statement on Familial Pulmonary Fibrosis.

Borie R, Kannengiesser C, Antoniou K, Bonella F, Crestani B, Fabre A, Froidure A, Galvin L, Griese M, Grutters JC, Molina-Molina M, Poletti V, Prasse A, Renzoni E, van der Smagt J, van Moorsel CHM.

Eur Respir J. 2022 Dec 22:2201383.
Fibrose pulmonaire - FPI 31/08/23
Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.

Peljto AL, Blumhagen RZ, Walts AD, Cardwell J, Powers J, Corte TJ, Dickinson JL, Glaspole I, Moodley YP, Vasakova MK, Bendstrup E, Davidsen JR, Borie R, Crestani B, Dieude P, Bonella F, Costabel U, Gudmundsson G, Donnelly SC, Egan J, Henry MT, Keane MP, Kennedy MP, McCarthy C, McElroy AN, Olaniyi JA, O'Reilly KMA, Richeldi L, Leone PM, Poletti V, Puppo F, Tomassetti S, Luzzi V, Kokturk N, Mogulkoc N, Fiddler CA, Hirani N, Jenkins G, Maher TM, Molyneaux PL, Parfrey H, Braybrooke R, Blackwell TS, Jackson PD, Nathan SD, Porteous MK, Brown KK, Christie JD, Collard HR, Eickelberg O, Foster EE, Gibson KF, Glassberg M, Kass D, Kropski JA, Lederer D, Linderholm AL, Loyd J, Mathai SK, Montesi SB, Noth I, Oldham JM, Palmisciano AJ, Reichner CA, Rojas M, Roman J, Schluger N, Shea BS, Swigris JJ, Wolters PJ, Zhang Y, Prele CMA, Enghelmayer JI, Otaola M, Ryerson CJ, Salinas M, Sterclova M, Gebremariam TH, Myllärniemi M, Carbone R, Furusawa H, Hirose M, Inoue Y, Miyazaki Y, Ohta K, Ohta S, Okamoto T, Kim DS, Pardo A, Selman M, Aranda AU, Park MS, Park JS, Song JW, Molina-Molina M, Planas-Cerezales L, Westergren-Thorsson G, Smith AV, Manichaikul AW, Kim JS, Rich SS, Oelsner EC, Barr RG, Rotter JI, Dupuis J, O'Connor G, Vasan RS, Cho MH, Silverman EK, Schwarz MI, Steele MP, Lee JS, Yang IV, Fingerlin TE, Schwartz DA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium.

Am J Respir Crit Care Med. 2023 Jan 5.
Fibrose pulmonaire - FPI 31/08/23
Now we know: chronic exposure to air pollutants is a risk factor for the development of idiopathic pulmonary fibrosis.

Sesé L, Harari S.

Eur Respir J. 2023 Feb 2;61(2):2202113.
Dyskinésies ciliaires primitives (DCP) 31/08/23
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.

J Hum Genet. 2022 Jul;67(7):381-386.
Dyskinésies ciliaires primitives (DCP) 31/08/23
Primary ciliary dyskinesia and fungal infections: Two cases of allergic bronchopulmonary aspergillosis in children.

Allaer L, Lejeune S, Mordacq C, Deschildre A, Thumerelle C.

Pediatr Pulmonol. 2022 Jul;57(7):1809-1813.
Dyskinésies ciliaires primitives (DCP) 31/08/23
The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.

Raidt J, Maitre B, Pennekamp P, Altenburg J, Anagnostopoulou P, Armengot M, Bloemsma LD, Boon M, Borrelli M, Brinkmann F, Carr SB, Carroll MP, Castillo-Corullón S, Coste A, Cutrera R, Dehlink E, Destouches DMS, Di Cicco ME, Dixon L, Emiralioglu N, Erdem Eralp E, Haarman EG, Hogg C, Karadag B, Kobbernagel HE, Lorent N, Mall MA, Marthin JK, Martinu V, Narayanan M, Ozcelik U, Peckham D, Pifferi M, Pohunek P, Polverino E, Range S, Ringshausen FC, Robson E, Roehmel J, Rovira-Amigo S, Santamaria F, Schlegtendal A, Szépfalusi Z, Tempels P, Thouvenin G, Ullmann N, Walker WT, Wetzke M, Yiallouros P, Omran H, Nielsen KG.

ERJ Open Res. 2022 Aug 15;8(3):00139-2022
Dyskinésies ciliaires primitives (DCP) 31/08/23
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.

J Clin Med. 2022 Aug 31;11(17):5163.
Dyskinésies ciliaires primitives (DCP) 31/08/23
High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.

Legendre M, Thouvenin G, Taytard J, Baron M, Le Bourgeois M, Tamalet A, Mani R, Jouvion G, Amselem S, Escudier E, Beydon N.

Ann Am Thorac Soc. 2022 Oct;19(10):1704-1712.
Dyskinésies ciliaires primitives (DCP) 31/08/23
Lung function from school age to adulthood in primary ciliary dyskinesia.

Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE.

Eur Respir J. 2022 Oct 20;60(4):2101918.
Dilatation des bronches ou bronchectasies (non CF, non DCP) 31/08/23
Criteria and definitions for the radiological and clinical diagnosis of bronchiectasis in adults for use in clinical trials: international consensus recommendations.

Aliberti S, Goeminne PC, O'Donnell AE, Aksamit TR, Al-Jahdali H, Barker AF, Blasi F, Boersma WG, Crichton ML, De Soyza A, Dimakou KE, Elborn SJ, Feldman C, Tiddens H, Haworth CS, Hill AT, Loebinger MR, Martinez-Garcia MA, Meerburg JJ, Menendez R, Morgan LC, Murris MS, Polverino E, Ringshausen FC, Shteinberg M, Sverzellati N, Tino G, Torres A, Vandendriessche T, Vendrell M, Welte T, Wilson R, Wong CA, Chalmers JD.

Lancet Respir Med. 2022 Mar;10(3):298-306.

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European Respiratory Society Statement on Familial Pulmonary Fibrosis.

Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.

Now we know: chronic exposure to air pollutants is a risk factor for the development of idiopathic pulmonary fibrosis.

Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.

Primary ciliary dyskinesia and fungal infections: Two cases of allergic bronchopulmonary aspergillosis in children.

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN.

Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study.

High Nasal Nitric Oxide, Cilia Analyses, and Genotypes in a Retrospective Cohort of Children with Primary Ciliary Dyskinesia.

Lung function from school age to adulthood in primary ciliary dyskinesia.

Criteria and definitions for the radiological and clinical diagnosis of bronchiectasis in adults for use in clinical trials: international consensus recommendations.