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Page 1
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients.
Frémond ML, Hadchouel A, Berteloot L, Melki I, Bresson V, Barnabei L, Jeremiah N, Belot A, Bondet V, Brocq O, Chan D, Dagher R, Dubus JC, Duffy D, Feuillet-Soummer S, Fusaro M, Gattorno M, Insalaco A, Jeziorski E, Kitabayashi N, Lopez-Corbeto M, Mazingue F, Morren MA, Rice GI, Rivière JG, Seabra L, Sirvente J, Soler-Palacin P, Stremler-Le Bel N, Thouvenin G, Thumerelle C, Van Aerde E, Volpi S, Willcocks S, Wouters C, Breton S, Molina T, Bader-Meunier B, Moshous D, Fischer A, Blanche S, Rieux-Laucat F, Crow YJ, Neven B. Frémond ML, et al. Among authors: thumerelle c. J Allergy Clin Immunol Pract. 2021 Feb;9(2):803-818.e11. doi: 10.1016/j.jaip.2020.11.007. Epub 2020 Nov 18. J Allergy Clin Immunol Pract. 2021. PMID: 33217613 Free article.
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.
Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, Thumerelle C, Oksenhendler E, Boutboul D, Thomas C, Hoarau C, Lebranchu Y, Stephan JL, Cazorla C, Aladjidi N, Micheau M, Tron F, Baruchel A, Barlogis V, Palenzuela G, Mathey C, Dominique S, Body G, Munzer M, Fouyssac F, Jaussaud R, Bader-Meunier B, Mahlaoui N, Blanche S, Debré M, Le Bourgeois M, Gandemer V, Lambert N, Grandin V, Ndaga S, Jacques C, Harre C, Forveille M, Alyanakian MA, Durandy A, Bodemer C, Suarez F, Hermine O, Lortholary O, Casanova JL, Fischer A, Picard C. Chandesris MO, et al. Among authors: thumerelle c. Medicine (Baltimore). 2012 Jul;91(4):e1-e19. doi: 10.1097/MD.0b013e31825f95b9. Medicine (Baltimore). 2012. PMID: 22751495 Free PMC article.
Neonatal outcomes of prenatally diagnosed congenital pulmonary malformations.
Ruchonnet-Metrailler I, Leroy-Terquem E, Stirnemann J, Cros P, Ducoin H, Hadchouel A, Khen-Dunlop N, Labbé A, Labouret G, Lebras MN, Lezmi G, Madhi F, Salomon LJ, Thouvenin G, Thumerelle C, Delacourt C. Ruchonnet-Metrailler I, et al. Among authors: thumerelle c. Pediatrics. 2014 May;133(5):e1285-91. doi: 10.1542/peds.2013-2986. Pediatrics. 2014. PMID: 24777224
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Respiratory Morbidity in Infants Born With a Congenital Lung Malformation.
Delestrain C, Khen-Dunlop N, Hadchouel A, Cros P, Ducoin H, Fayon M, Gibertini I, Labbé A, Labouret G, Lebras MN, Lezmi G, Madhi F, Thouvenin G, Thumerelle C, Delacourt C. Delestrain C, et al. Among authors: thumerelle c. Pediatrics. 2017 Mar;139(3):e20162988. doi: 10.1542/peds.2016-2988. Epub 2017 Feb 15. Pediatrics. 2017. PMID: 28202768
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. Nattes E, et al. Among authors: thumerelle c. Respir Med. 2017 Aug;129:16-23. doi: 10.1016/j.rmed.2017.05.014. Epub 2017 May 26. Respir Med. 2017. PMID: 28732825 Free article. Clinical Trial.
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. Alimi A, et al. Among authors: thumerelle c. Orphanet J Rare Dis. 2018 Apr 20;13(1):60. doi: 10.1186/s13023-018-0806-6. Orphanet J Rare Dis. 2018. PMID: 29678139 Free PMC article.
122 results