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493 results

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Page 1
Frequent and widespread vascular abnormalities in human signal transducer and activator of transcription 3 deficiency.
Chandesris MO, Azarine A, Ong KT, Taleb S, Boutouyrie P, Mousseaux E, Romain M, Bozec E, Laurent S, Boddaert N, Thumerelle C, Tillie-Leblond I, Hoarau C, Lebranchu Y, Aladjidi N, Tron F, Barlogis V, Body G, Munzer M, Jaussaud R, Suarez F, Clément O, Hermine O, Tedgui A, Lortholary O, Picard C, Mallat Z, Fischer A. Chandesris MO, et al. Among authors: boddaert n. Circ Cardiovasc Genet. 2012 Feb 1;5(1):25-34. doi: 10.1161/CIRCGENETICS.111.961235. Epub 2011 Nov 14. Circ Cardiovasc Genet. 2012. PMID: 22084479
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N, Poirier K, Boddaert N, Saillour Y, Castelnau L, Philip N, Buyse G, Villard L, Joriot S, Marret S, Bourgeois M, Van Esch H, Lagae L, Amiel J, Hertz-Pannier L, Roubertie A, Rivier F, Pinard JM, Beldjord C, Chelly J. Bahi-Buisson N, et al. Among authors: boddaert n. J Med Genet. 2008 Oct;45(10):647-53. doi: 10.1136/jmg.2008.058073. Epub 2008 Aug 26. J Med Genet. 2008. PMID: 18728072
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P. Valayannopoulos V, et al. Among authors: boddaert n. Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31. Mol Genet Metab. 2009. PMID: 19345633
Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantation.
Frange P, Peffault de Latour R, Arnaud C, Boddaert N, Oualha M, Avettand-Fenoel V, Bernaudin F, Aguilar C, Barnerias C, Leruez-Ville M, Touzot F, Lortholary O, Fischer A, Blanche S. Frange P, et al. Among authors: boddaert n. J Clin Microbiol. 2011 Jun;49(6):2361-4. doi: 10.1128/JCM.00080-11. Epub 2011 Apr 13. J Clin Microbiol. 2011. PMID: 21490187 Free PMC article.
A neuropathological study of cerebrovascular abnormalities in a signal transducer and activator of transcription 3-deficient patient.
Chandesris MO, Gray F, Bruneval P, Azarine A, Boddaert N, Oppenheim C, Paraire F, Touzé E, Bonnet D, Hermine O, Lortholary O, Cormier-Daire V, Boutouyrie P, Mallat Z, Fischer A, Picard C. Chandesris MO, et al. Among authors: boddaert n. J Allergy Clin Immunol. 2015 Nov;136(5):1418-21.e1-5. doi: 10.1016/j.jaci.2015.05.021. Epub 2015 Jun 30. J Allergy Clin Immunol. 2015. PMID: 26141261 No abstract available.
Neuroimaging evidence of brain abnormalities in mastocytosis.
Boddaert N, Salvador A, Chandesris MO, Lemaître H, Grévent D, Gauthier C, Naggara O, Georgin-Lavialle S, Moura DS, Munsch F, Jaafari N, Zilbovicius M, Lortholary O, Gaillard R, Hermine O. Boddaert N, et al. Transl Psychiatry. 2017 Aug 8;7(8):e1197. doi: 10.1038/tp.2017.137. Transl Psychiatry. 2017. PMID: 28786975 Free PMC article.
Type I interferon-mediated autoinflammation due to DNase II deficiency.
Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ. Rodero MP, et al. Among authors: boddaert n. Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3. Nat Commun. 2017. PMID: 29259162 Free PMC article.
Alternative pathways for the development of lymphoid structures in humans.
Berteloot L, Molina TJ, Bruneau J, Picard C, Barlogis V, Secq V, Abdo C, Boddaert N, Griscelli C, Neven B, Fischer A. Berteloot L, et al. Among authors: boddaert n. Proc Natl Acad Sci U S A. 2021 Jul 20;118(29):e2108082118. doi: 10.1073/pnas.2108082118. Proc Natl Acad Sci U S A. 2021. PMID: 34261794 Free PMC article.
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. Baala L, et al. Among authors: boddaert n. Am J Hum Genet. 2007 Jan;80(1):186-94. doi: 10.1086/510499. Epub 2006 Nov 15. Am J Hum Genet. 2007. PMID: 17160906 Free PMC article.
493 results