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Page 1
Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia.
Crowley S, Azevedo I, Boon M, Bush A, Eber E, Haarman E, Karadag B, Kötz K, Leigh M, Moreno-Galdó A, Mussaffi H, Nielsen KG, Omran H, Papon JF, Pohunek P, Priftis K, Rindlisbacher B, Santamaria F, Valiulis A, Witt M, Yiallouros P, Zivkovic Z, Kuehni CE, Lucas JS. Crowley S, et al. Among authors: santamaria f. ERJ Open Res. 2020 Sep 14;6(3):00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul. ERJ Open Res. 2020. PMID: 32964005 Free PMC article.
An international registry for primary ciliary dyskinesia.
Werner C, Lablans M, Ataian M, Raidt J, Wallmeier J, Große-Onnebrink J, Kuehni CE, Haarman EG, Leigh MW, Quittner AL, Lucas JS, Hogg C, Witt M, Priftis KN, Yiallouros P, Nielsen KG, Santamaria F, Ückert F, Omran H. Werner C, et al. Among authors: santamaria f. Eur Respir J. 2016 Mar;47(3):849-59. doi: 10.1183/13993003.00776-2015. Epub 2015 Dec 8. Eur Respir J. 2016. PMID: 26659107 Free article.
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. Lucas JS, et al. Among authors: santamaria f. Eur Respir J. 2017 Jan 4;49(1):1601090. doi: 10.1183/13993003.01090-2016. Print 2017 Jan. Eur Respir J. 2017. PMID: 27836958 Free PMC article.
Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.
Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Goutaki M, et al. Among authors: santamaria f. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec. Eur Respir J. 2017. PMID: 29269581 Free article.
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.
Höben IM, Hjeij R, Olbrich H, Dougherty GW, Nöthe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H. Höben IM, et al. Among authors: santamaria f. Am J Hum Genet. 2018 May 3;102(5):973-984. doi: 10.1016/j.ajhg.2018.03.025. Am J Hum Genet. 2018. PMID: 29727693 Free PMC article.
Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study.
Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, Hogg C, Casaulta C, Crowley S, Haarman EG, Karadag B, Koerner-Rettberg C, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Lucas JS, Latzin P, Kuehni CE. Halbeisen FS, et al. Among authors: santamaria f. Eur Respir J. 2018 Aug 23;52(2):1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug. Eur Respir J. 2018. PMID: 30049738 Free article.
Editorial: Difficult and Severe Asthma in Children.
Bush A, Cutrera R, Piacentini G, Santamaria F, Ullmann N. Bush A, et al. Among authors: santamaria f. Front Pediatr. 2019 May 17;7:205. doi: 10.3389/fped.2019.00205. eCollection 2019. Front Pediatr. 2019. PMID: 31157198 Free PMC article. No abstract available.
Congenital Lung Malformations: Unresolved Issues and Unanswered Questions.
Annunziata F, Bush A, Borgia F, Raimondi F, Montella S, Poeta M, Borrelli M, Santamaria F. Annunziata F, et al. Among authors: santamaria f. Front Pediatr. 2019 Jun 13;7:239. doi: 10.3389/fped.2019.00239. eCollection 2019. Front Pediatr. 2019. PMID: 31249823 Free PMC article. Review.
258 results