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Page 1
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Among authors: barrey c. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: barrey c. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H. Marion V, et al. Among authors: barrey c. J Med Genet. 2012 May;49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510444
Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.
Allaf B, Pondarre C, Allali S, De Montalembert M, Arnaud C, Barrey C, Benkerrou M, Benhaim P, Bensaid P, Brousse V, Dollfus C, Eyssette-Guerreau S, Galacteros F, Gajdos V, Garrec N, Guillaumat C, Guitton C, Monfort-Gouraud M, Gouraud F, Holvoet L, Ithier G, Kamdem A, Koehl B, Malric A, Missud F, Monier B, Odièvre MH, Joly P, Renoux C, Patin F, Pissard S, Couque N. Allaf B, et al. Among authors: barrey c. Clin Chem Lab Med. 2020 Aug 19;59(1):209-216. doi: 10.1515/cclm-2020-0803. Clin Chem Lab Med. 2020. PMID: 32813673
Epidemiology and Clinical Presentation of Children Hospitalized with SARS-CoV-2 Infection in Suburbs of Paris.
Gaborieau L, Delestrain C, Bensaid P, Vizeneux A, Blanc P, Garraffo A, Georget E, Chalvon A, Garrec N, Laoudi Y, Varon E, Rouget S, Pupin A, Abdel Aal K, Toulorge D, Ducrocq S, Barrey C, Pantalone L, Robert B, Joly-Sanchez L, Thach C, Masserot-Lureau C, Chahine J, Garcia-Roudaut VR, Rozental J, Nathanson S, Khaled M, Mandelcwajg A, Demayer N, Muller S, Mazerghane M, Epaud R, Pellegrino B, Madhi F. Gaborieau L, et al. Among authors: barrey c. J Clin Med. 2020 Jul 14;9(7):2227. doi: 10.3390/jcm9072227. J Clin Med. 2020. PMID: 32674306 Free PMC article.
Association of Intravenous Immunoglobulins Plus Methylprednisolone vs Immunoglobulins Alone With Course of Fever in Multisystem Inflammatory Syndrome in Children.
Ouldali N, Toubiana J, Antona D, Javouhey E, Madhi F, Lorrot M, Léger PL, Galeotti C, Claude C, Wiedemann A, Lachaume N, Ovaert C, Dumortier M, Kahn JE, Mandelcwajg A, Percheron L, Biot B, Bordet J, Girardin ML, Yang DD, Grimaud M, Oualha M, Allali S, Bajolle F, Beyler C, Meinzer U, Levy M, Paulet AM, Levy C, Cohen R, Belot A, Angoulvant F; French Covid-19 Paediatric Inflammation Consortium. Ouldali N, et al. JAMA. 2021 Mar 2;325(9):855-864. doi: 10.1001/jama.2021.0694. JAMA. 2021. PMID: 33523115 Free PMC article.
A randomised trial of high-flow nasal cannula in infants with moderate bronchiolitis.
Durand P, Guiddir T, Kyheng C, Blanc F, Vignaud O, Epaud R, Dugelay F, Breant I, Badier I, Degas-Bussière V, Phan F, Soussan-Banini V, Lehnert A, Mbamba C, Barrey C, Tahiri C, Decobert M, Saunier-Pernaudet M, Craiu I, Taveira M, Gajdos V; Bronchopti study group. Durand P, et al. Among authors: barrey c. Eur Respir J. 2020 Jul 16;56(1):1901926. doi: 10.1183/13993003.01926-2019. Print 2020 Jul. Eur Respir J. 2020. PMID: 32381496 Free article. Clinical Trial.
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF, Sinning I, Dupré T, Vuillaumier-Barrot S, Barrey C, Denecke J, Kölfen W, Düker G, Ganschow R, Lentze MJ, Moore S, Seta N, Ziegler A, Thiel C. Himmelreich N, et al. Among authors: barrey c. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8. Hum Mutat. 2019. PMID: 31067009 Review.
Correction to "Hyper inflammatory syndrome following COVID-19 mRNA vaccine in children: A national post-authorization pharmacovigilance study".
Ouldali N, Bagheri H, Salvo F, Antona D, Pariente A, Leblanc C, Tebacher M, Micallef J, Levy C, Cohen R, Javouhey E, Bader-Meunier B, Ovaert C, Renolleau S, Hentgen V, Kone-Paut I, Deschamps N, De Pontual L, Iriart X, Guen CG, Angoulvant F, Belot A; French Covid-19 Paediatric Inflammation Consortium; French Pharmacovigilance network. Ouldali N, et al. Lancet Reg Health Eur. 2022 Oct;21:100468. doi: 10.1016/j.lanepe.2022.100468. Epub 2022 Aug 10. Lancet Reg Health Eur. 2022. PMID: 35967266 Free PMC article.
130 results