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Page 1
Severe Abdominal Manifestations in Juvenile Dermatomyositis.
Besnard C, Gitiaux C, Girard M, Galmiche-Rolland L, Talbotec C, Quartier P, Bodemer C, Berteloot L, Bader-Meunier B. Besnard C, et al. Among authors: talbotec c. J Pediatr Gastroenterol Nutr. 2020 Feb;70(2):247-251. doi: 10.1097/MPG.0000000000002575. J Pediatr Gastroenterol Nutr. 2020. PMID: 31978027
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Passone CGB, Vermillac G, Staels W, Besancon A, Kariyawasam D, Godot C, Lambe C, Talbotec C, Girard M, Chardot C, Berteloot L, Hachem T, Lapillonne A, Poidvin A, Storey C, Neve M, Stan C, Dugelay E, Fauret-Amsellem AL, Capri Y, Cavé H, Ybarra M, Chandra V, Scharfmann R, Bismuth E, Polak M, Carel JC, Pigneur B, Beltrand J. Passone CGB, et al. Among authors: talbotec c. Front Endocrinol (Lausanne). 2022 Jun 22;13:802351. doi: 10.3389/fendo.2022.802351. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35813646 Free PMC article.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: talbotec c. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J, Goulet O, Canioni D, Brousse N, Lemale J, Tounian P, Coulomb A, Marinier E, Hugot JP, Ruemmele F, Dufier JL, Roche O, Bodemer C, Colomb V, Talbotec C, Lacaille F, Campeotto F, Cerf-Bensussan N, Janecke AR, Mueller T, Koletzko S, Bonnefont JP, Lyonnet S, Munnich A, Poirier F, Smahi A. Salomon J, et al. Among authors: talbotec c. Hum Genet. 2014 Mar;133(3):299-310. doi: 10.1007/s00439-013-1380-6. Epub 2013 Oct 19. Hum Genet. 2014. PMID: 24142340
Severe chronic primary neutropenia in adults: report on a series of 108 patients.
Sicre de Fontbrune F, Moignet A, Beaupain B, Suarez F, Galicier L, Socié G, Varet B, Coppo P, Michel M, Pautas C, Oksenhendler E, Lengline E, Terriou L, Moreau P, Chantepie S, Casadevall N, Michot JM, Gardembas M, Michallet M, Croisille L, Audrain M, Bellanné-Chantelot C, Donadieu J, Lamy T; French Severe Chronic Neutropenia Registry. Sicre de Fontbrune F, et al. Blood. 2015 Oct 1;126(14):1643-50. doi: 10.1182/blood-2015-03-634493. Epub 2015 Aug 10. Blood. 2015. PMID: 26261239 Free article.
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