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Page 1
Perinatal, metabolic, and reproductive features in PPARG-related lipodystrophy.
Gosseaume C, Fournier T, Jéru I, Vignaud ML, Missotte I, Archambeaud F, Debussche X, Droumaguet C, Fève B, Grillot S, Guerci B, Hieronimus S, Horsmans Y, Nobécourt E, Pienkowski C, Poitou C, Thissen JP, Lascols O, Degrelle S, Tsatsaris V, Vigouroux C, Vatier C. Gosseaume C, et al. Among authors: missotte i. Eur J Endocrinol. 2023 Mar 2;188(3):lvad023. doi: 10.1093/ejendo/lvad023. Eur J Endocrinol. 2023. PMID: 36806620
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Schönauer R, et al. Among authors: missotte i. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18. Am J Hum Genet. 2023. PMID: 37207645 Free PMC article.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L. Chevarin M, et al. Among authors: missotte i. J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. J Med Genet. 2020. PMID: 32277047
Newly diagnosed rheumatic heart disease among indigenous populations in the Pacific.
Mirabel M, Tafflet M, Noël B, Parks T, Axler O, Robert J, Nadra M, Phelippeau G, Descloux E, Cazorla C, Missotte I, Gervolino S, Barguil Y, Rouchon B, Laumond S, Jubeau T, Braunstein C, Empana JP, Marijon E, Jouven X. Mirabel M, et al. Among authors: missotte i. Heart. 2015 Dec;101(23):1901-6. doi: 10.1136/heartjnl-2015-308237. Epub 2015 Nov 4. Heart. 2015. PMID: 26537732 Free PMC article.
Relationships Between Clinico-Epidemiological Patterns of Invasive Meningococcal Infections and Complement Deficiencies in French South Pacific Islands (New Caledonia).
Daures M, John M, Balter CV, Simon O, Barguil Y, Missotte I, Grangeon JP, Laumond-Barny S, Noel M, Besson-Leaud L, Spasic PE, de Suremain A, Gourinat AC, Descloux E. Daures M, et al. Among authors: missotte i. J Clin Immunol. 2015 Jan;35(1):47-55. doi: 10.1007/s10875-014-0104-6. Epub 2014 Oct 29. J Clin Immunol. 2015. PMID: 25352052
Association between age and severity to leptospirosis in children.
Guerrier G, Hie P, Gourinat AC, Huguon E, Polfrit Y, Goarant C, D'Ortenzio E, Missotte I. Guerrier G, et al. Among authors: missotte i. PLoS Negl Trop Dis. 2013 Sep 26;7(9):e2436. doi: 10.1371/journal.pntd.0002436. eCollection 2013. PLoS Negl Trop Dis. 2013. PMID: 24086780 Free PMC article.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: missotte i. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
[Leprosy with an unusual course].
Desenfants A, Huguon E, Polfrit Y, Crouzat M, Rouleau V, Chassot V, Besson-Leaud L, Missotte I. Desenfants A, et al. Among authors: missotte i. Arch Pediatr. 2012 Nov;19(11):1182-6. doi: 10.1016/j.arcped.2012.08.021. Epub 2012 Oct 1. Arch Pediatr. 2012. PMID: 23037580 French.
18 results