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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.


Interstitial lung disease reveals 48,XXYY syndrome in a child.

Gros M, Aissat A, Perez-Martin S, Abou Taam R, Funalot B, Fanen P, Epaud R, de Becdelievre A.

Acta Paediatr. 2019 Nov 13. doi: 10.1111/apa.15090. [Epub ahead of print] No abstract available.


Identification of Clinical and Laboratory Parameters Associated with the Development of Acute Chest Syndrome during Vaso-Occlusive Episodes in Children with Sickle Cell Disease: A Preliminary Step before Assessing Specific and Early Treatment Strategies.

Madhi F, Kamdem A, Jung C, Carlier-Gonod A, Biscardi S, Busca J, Arnaud C, Hau I, Narbey D, Epaud R, Pondarre C.

J Clin Med. 2019 Nov 1;8(11). pii: E1839. doi: 10.3390/jcm8111839.


Serum Immunoglobulin Levels in Children with Sickle Cell Disease: A Large Prospective Study.

Cherif-Alami S, Hau I, Arnaud C, Kamdem A, Coulon B, Idoux E, Bechet S, Creidy R, Bernaudin F, Epaud R, Pondarré C.

J Clin Med. 2019 Oct 15;8(10). pii: E1688. doi: 10.3390/jcm8101688.


Bacterial killing is enhanced by exogenous administration of lysozyme in the lungs.

Epaud R, Delestrain C, Weaver TE, Akinbi HT.

Respir Med Res. 2019 Nov;76:22-27. doi: 10.1016/j.resmer.2019.07.005. Epub 2019 Jul 20.


[Early determinants of chronic obstructive pulmonary disease: Lung regeneration, a new therapeutic target?]

Zysman M, Ribeiro Baptista B, Essari LA, Giffard C, Chabot F, Epaud R, Lanone S, Boczkowski J, Boyer L.

Rev Mal Respir. 2019 Apr;36(4):447-450. doi: 10.1016/j.rmr.2019.03.006. Epub 2019 Apr 19. Review. French.


Protein-losing gastropathy associated with cytomegalovirus in two sisters - Case reports and review of the literature.

Tard C, Madhi F, Verlhac S, Hagège H, Epaud R, Jung C.

Arch Pediatr. 2019 May;26(4):232-235. doi: 10.1016/j.arcped.2019.03.005. Epub 2019 Apr 4. Review.


Health-related quality of life in infants and children with interstitial lung disease.

Lauby C, Boelle PY, Abou Taam R, Bessaci K, Brouard J, Dalphin ML, Delacourt C, Delestrain C, Deschildre A, Dubus JC, Fayon M, Giovannini-Chami L, Houdouin V, Houzel A, Marguet C, Pin I, Reix P, Renoux MC, Schweitzer C, Tatopoulos A, Thumerelle C, Troussier F, Wanin S, Weiss L, Clement A, Epaud R, Nathan N.

Pediatr Pulmonol. 2019 Jun;54(6):828-836. doi: 10.1002/ppul.24308. Epub 2019 Mar 13.


Unusual long survival despite severe lung disease of a child with biallelic loss of function mutations in ABCA-3.

El Boustany P, Epaud R, Grosse C, Barriere F, Grimont-Rolland E, Carsin A, Dubus JC.

Respir Med Case Rep. 2018 Mar 6;23:173-175. doi: 10.1016/j.rmcr.2018.03.004. eCollection 2018.


Pulmonary hemosiderosis in children with Down syndrome: a national experience.

Alimi A, Taytard J, Abou Taam R, Houdouin V, Forgeron A, Lubrano Lavadera M, Cros P, Gibertini I, Derelle J, Deschildre A, Thumerelle C, Epaud R, Reix P, Fayon M, Roullaud S, Troussier F, Renoux MC, de Blic J, Leyronnas S, Thouvenin G, Perisson C, Ravel A, Clement A, Corvol H, Nathan N; French RespiRare® group.

Orphanet J Rare Dis. 2018 Apr 20;13(1):60. doi: 10.1186/s13023-018-0806-6.


An update on paediatric respiratory diseases.

Epaud R.

Eur Respir Rev. 2018 Apr 5;27(147). pii: 180013. doi: 10.1183/16000617.0013-2018. Print 2018 Mar 31. No abstract available.


Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea.

Bernaudin F, Arnaud C, Kamdem A, Hau I, Lelong F, Epaud R, Pondarré C, Pissard S.

Blood Adv. 2018 Mar 27;2(6):626-637. doi: 10.1182/bloodadvances.2017014555.


International management platform for children's interstitial lung disease (chILD-EU).

Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A; the other chILD-EU collaborators.

Thorax. 2018 Mar;73(3):231-239. doi: 10.1136/thoraxjnl-2017-210519. Epub 2017 Oct 22.


The most frequent ABCA3 nonsense mutation -p.Tyr1515* (Y1515X) causing lethal neonatal respiratory failure in a term neonate.

AlAnazi A, Epaud R, Heena H, de Becdelievre A, Miqdad AM, Fanen P.

Ann Thorac Med. 2017 Jul-Sep;12(3):213-215. doi: 10.4103/atm.ATM_386_16.


Heterogeneity of lung disease associated with NK2 homeobox 1 mutations.

Nattes E, Lejeune S, Carsin A, Borie R, Gibertini I, Balinotti J, Nathan N, Marchand-Adam S, Thumerelle C, Fauroux B, Bosdure E, Houdouin V, Delestrain C, Louha M, Couderc R, De Becdelievre A, Fanen P, Funalot B, Crestani B, Deschildre A, Dubus JC, Epaud R.

Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26.


Effect of Nebulized Hypertonic Saline Treatment in Emergency Departments on the Hospitalization Rate for Acute Bronchiolitis: A Randomized Clinical Trial.

Angoulvant F, Bellêttre X, Milcent K, Teglas JP, Claudet I, Le Guen CG, de Pontual L, Minodier P, Dubos F, Brouard J, Soussan-Banini V, Degas-Bussiere V, Gatin A, Schweitzer C, Epaud R, Ryckewaert A, Cros P, Marot Y, Flahaut P, Saunier P, Babe P, Patteau G, Delebarre M, Titomanlio L, Vrignaud B, Trieu TV, Tahir A, Regnard D, Micheau P, Charara O, Henry S, Ploin D, Panjo H, Vabret A, Bouyer J, Gajdos V; Efficacy of 3% Hypertonic Saline in Acute Viral Bronchiolitis (GUERANDE) Study Group.

JAMA Pediatr. 2017 Aug 7;171(8):e171333. doi: 10.1001/jamapediatrics.2017.1333. Epub 2017 Aug 7.


Deciphering the mechanism of Q145H SFTPC mutation unmasks a splicing defect and explains the severity of the phenotype.

Delestrain C, Simon S, Aissat A, Medina R, Decrouy X, Nattes E, Tarze A, Costes B, Fanen P, Epaud R.

Eur J Hum Genet. 2017 Jun;25(6):779-782. doi: 10.1038/ejhg.2017.36. Epub 2017 Mar 15.


Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.

Soysal N, Eyries M, Verlhac S, Escabasse V, Remus N, Tamalet A, Rioux JY, Franchi-Abella S, Vasile M, Robert S, Delestrain C, Hau I, Ducou-Le Pointe H, Soubrier F, Carette MF, Epaud R.

Pediatr Pulmonol. 2017 May;52(5):642-649. doi: 10.1002/ppul.23649. Epub 2017 Feb 6.


Management of children with interstitial lung diseases: the difficult issue of acute exacerbations.

Clement A, de Blic J, Epaud R, Galeron L, Nathan N, Hadchouel A, Barbato A, Snijders D, Kiper N, Cunningham S, Griese M, Bush A, Schwerk N; chILD-EU collaboration.

Eur Respir J. 2016 Dec;48(6):1559-1563. doi: 10.1183/13993003.01900-2016. No abstract available.


[Seasonality in asthma: Impact and treatments].

Guilleminault L, Just J, Humbert M, Leroyer C, Epaud R.

Presse Med. 2016 Nov;45(11):1005-1018. doi: 10.1016/j.lpm.2016.01.019. Epub 2016 Mar 30. Review. French.


Ultrasonography and Computed Tomographic Manifestations of Abdominal Sarcoidosis in Children.

Morel B, Sileo C, Epaud R, Blondiaux E, Nathan N, Corvol H, Tounian P, Le Pointe HD.

J Pediatr Gastroenterol Nutr. 2016 Aug;63(2):195-9. doi: 10.1097/MPG.0000000000001175.


New use for an old drug: COX-independent anti-inflammatory effects of sulindac in models of cystic fibrosis.

Rocca J, Manin S, Hulin A, Aissat A, Verbecq-Morlot W, Prulière-Escabasse V, Wohlhuter-Haddad A, Epaud R, Fanen P, Tarze A.

Br J Pharmacol. 2016 Jun;173(11):1728-41. doi: 10.1111/bph.13464. Epub 2016 Apr 21.


Long-term treatment follow-up of children with sickle cell disease monitored with abnormal transcranial Doppler velocities.

Bernaudin F, Verlhac S, Arnaud C, Kamdem A, Hau I, Leveillé E, Vasile M, Kasbi F, Madhi F, Fourmaux C, Biscardi S, Gluckman E, Socié G, Dalle JH, Epaud R, Pondarré C.

Blood. 2016 Apr 7;127(14):1814-22. doi: 10.1182/blood-2015-10-675231. Epub 2016 Feb 5.


Effectiveness of palivizumab in children with childhood interstitial lung disease: The French experience.

Drummond D, Thumerelle C, Reix P, Fayon M, Epaud R, Clement A, Mahloul M, Habouria D, Delacourt C, Hadchouel A.

Pediatr Pulmonol. 2016 Jul;51(7):688-95. doi: 10.1002/ppul.23354. Epub 2015 Dec 4.


European protocols for the diagnosis and initial treatment of interstitial lung disease in children.

Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M; chILD-EU Collaboration.

Thorax. 2015 Nov;70(11):1078-84. doi: 10.1136/thoraxjnl-2015-207349. Epub 2015 Jul 1. Review.


Lung sarcoidosis in children: update on disease expression and management.

Nathan N, Marcelo P, Houdouin V, Epaud R, de Blic J, Valeyre D, Houzel A, Busson PF, Corvol H, Deschildre A, Clement A; RespiRare and the French Sarcoidosis groups.

Thorax. 2015 Jun;70(6):537-42. doi: 10.1136/thoraxjnl-2015-206825. Epub 2015 Apr 8.


Chronic and acute anemia and extracranial internal carotid stenosis are risk factors for silent cerebral infarcts in sickle cell anemia.

Bernaudin F, Verlhac S, Arnaud C, Kamdem A, Vasile M, Kasbi F, Hau I, Madhi F, Fourmaux C, Biscardi S, Epaud R, Pondarré C.

Blood. 2015 Mar 5;125(10):1653-61. doi: 10.1182/blood-2014-09-599852. Epub 2014 Dec 22.


Cladribine improves lung cysts and pulmonary function in a child with histiocytosis.

Epaud R, Ducou Le Pointe H, Fasola S, Ploussard S, Delestrain C, Sileo C, Donadieu J.

Eur Respir J. 2015 Mar;45(3):831-3. doi: 10.1183/09031936.00146114. Epub 2014 Nov 13. No abstract available. Erratum in: Eur Respir J. 2016 Feb;47(2):692.


Acute cervical lymphadenitis and infections of the retropharyngeal and parapharyngeal spaces in children.

Georget E, Gauthier A, Brugel L, Verlhac S, Remus N, Epaud R, Madhi F.

BMC Ear Nose Throat Disord. 2014 Sep 5;14:8. doi: 10.1186/1472-6815-14-8. eCollection 2014.


Clinical predictors of radiographic abnormalities among infants with bronchiolitis in a paediatric emergency department.

Ecochard-Dugelay E, Beliah M, Perreaux F, de Laveaucoupet J, Bouyer J, Epaud R, Labrune P, Ducou-Lepointe H, Gajdos V.

BMC Pediatr. 2014 Jun 6;14:143. doi: 10.1186/1471-2431-14-143.


Impact of chest radiography for children with lower respiratory tract infection: a propensity score approach.

Ecochard-Dugelay E, Beliah M, Boisson C, Perreaux F, de Laveaucoupet J, Labrune P, Epaud R, Ducou-Lepointe H, Bouyer J, Gajdos V.

PLoS One. 2014 May 2;9(5):e96189. doi: 10.1371/journal.pone.0096189. eCollection 2014.


Serotype 3 pneumococcal pleural empyema in an immunocompetent child after 13-valent pneumococcal conjugate vaccine.

Madhi F, Godot C, Bidet P, Bahuaud M, Epaud R, Cohen R.

Pediatr Infect Dis J. 2014 May;33(5):545-6. doi: 10.1097/INF.0000000000000252. No abstract available.


Survival of an infant with homozygous surfactant protein C (SFTPC) mutation.

Arıkan-Ayyıldız Z, Caglayan-Sozmen S, Isık S, Deterding R, Dishop MK, Couderc R, Epaud R, Louha M, Uzuner N.

Pediatr Pulmonol. 2014 Mar;49(3):E112-5. doi: 10.1002/ppul.22976. Epub 2013 Dec 17.


Sarcoidosis in children: HRCT findings and correlation with pulmonary function tests.

Sileo C, Epaud R, Mahloul M, Beydon N, Elia D, Clement A, Le Pointe HD.

Pediatr Pulmonol. 2014 Dec;49(12):1223-33. doi: 10.1002/ppul.22956. Epub 2013 Dec 11.


Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.

Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A.

Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17. No abstract available.


New insights into pediatric idiopathic pulmonary hemosiderosis: the French RespiRare(®) cohort.

Taytard J, Nathan N, de Blic J, Fayon M, Epaud R, Deschildre A, Troussier F, Lubrano M, Chiron R, Reix P, Cros P, Mahloul M, Michon D, Clement A, Corvol H; French RespiRare® group.

Orphanet J Rare Dis. 2013 Oct 14;8:161. doi: 10.1186/1750-1172-8-161.


Massive splenomegaly and pancytopenia reuealing sarcoidosis in a child.

Viprey M, Donadieu J, Epaud R, Coulomb A, Le Pointe HD, Clement A, Fauroux B, Corvol H.

Sarcoidosis Vasc Diffuse Lung Dis. 2013 Aug 1;30(2):149-52.


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.


[Lung diseases in children associated with inherited disorders of surfactant metabolism].

Delestrain C, Flamein F, Jonard L, Couderc R, Guillot L, Fanen P, Epaud R.

Rev Pneumol Clin. 2013 Aug;69(4):183-9. doi: 10.1016/j.pneumo.2013.05.002. Epub 2013 Jul 12. Review. French.


Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin.

Thouvenin G, Nathan N, Epaud R, Clement A.

BMJ Case Rep. 2013 Jun 24;2013. pii: bcr2013009988. doi: 10.1136/bcr-2013-009988.


Research in progress: put the orphanage out of business.

Bush A, Anthony G, Barbato A, Cunningham S, Clement A, Epaud R, Gilbert C, Goldbeck L, Kronfeld K, Nicholson AG, Schwerk N, Griese M; ch-ILD collaborators.

Thorax. 2013 Oct;68(10):971-3. doi: 10.1136/thoraxjnl-2012-203201. Epub 2013 Feb 21.


[Bronchopulmonary dysplasia-associated pulmonary arterial hypertension of very preterm infants].

Meau-Petit V, Thouvenin G, Guillemot-Lambert N, Champion V, Tillous-Borde I, Flamein F, de Saint Blanquat L, Essouri S, Guilbert J, Nathan N, Guellec I, Kout S, Epaud R, Lévy M.

Arch Pediatr. 2013 Jan;20(1):44-53. doi: 10.1016/j.arcped.2012.10.017. Epub 2012 Dec 21. French.


Combined relay therapy with oral cefixime and clavulanate for febrile urinary tract infection caused by extended-spectrum β-lactamase-producing Escherichia coli.

Madhi F, Biscardi S, Bingen E, Jaby O, Epaud R, Cohen R.

Pediatr Infect Dis J. 2013 Jan;32(1):96-7. doi: 10.1097/INF.0b013e318271f369. No abstract available.


Knockout of insulin-like growth factor-1 receptor impairs distal lung morphogenesis.

Epaud R, Aubey F, Xu J, Chaker Z, Clemessy M, Dautin A, Ahamed K, Bonora M, Hoyeau N, Fléjou JF, Mailleux A, Clement A, Henrion-Caude A, Holzenberger M.

PLoS One. 2012;7(11):e48071. doi: 10.1371/journal.pone.0048071. Epub 2012 Nov 6.


[Anomalous left coronary artery from pulmonary artery revealed by acute bronchiolitis].

Nakle N, Biscardi S, Lambert V, Sigal-Cinqualbre A, Epaud R, Madhi F.

Rev Mal Respir. 2012 Sep;29(7):912-5. doi: 10.1016/j.rmr.2012.03.006. Epub 2012 Jul 15. French.


Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.


A national internet-linked based database for pediatric interstitial lung diseases: the French network.

Nathan N, Taam RA, Epaud R, Delacourt C, Deschildre A, Reix P, Chiron R, de Pontbriand U, Brouard J, Fayon M, Dubus JC, Giovannini-Chami L, Bremont F, Bessaci K, Schweitzer C, Dalphin ML, Marguet C, Houdouin V, Troussier F, Sardet A, Hullo E, Gibertini I, Mahloul M, Michon D, Priouzeau A, Galeron L, Vibert JF, Thouvenin G, Corvol H, Deblic J, Clement A; French RespiRare® Group.

Orphanet J Rare Dis. 2012 Jun 15;7:40.


Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome.

Teissier R, Guillot L, Carré A, Morandini M, Stuckens C, Ythier H, Munnich A, Szinnai G, de Blic J, Clement A, Leger J, Castanet M, Epaud R, Polak M.

Horm Res Paediatr. 2012;77(3):146-51. doi: 10.1159/000337214. Epub 2012 Apr 5.


[Genetic disorders of surfactant].

Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F.

Arch Pediatr. 2012 Feb;19(2):212-9. doi: 10.1016/j.arcped.2011.12.004. Epub 2012 Jan 9. Review. French.


Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.

Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Brémont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L.

Hum Mol Genet. 2012 Feb 15;21(4):765-75. doi: 10.1093/hmg/ddr508. Epub 2011 Nov 7.

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