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Page 1
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).
Fiot E, Alauze B, Donadille B, Samara-Boustani D, Houang M, De Filippo G, Bachelot A, Delcour C, Beyler C, Bois E, Bourrat E, Bui Quoc E, Bourcigaux N, Chaussain C, Cohen A, Cohen-Solal M, Da Costa S, Dossier C, Ederhy S, Elmaleh M, Iserin L, Lengliné H, Poujol-Robert A, Roulot D, Viala J, Albarel F, Bismuth E, Bernard V, Bouvattier C, Brac A, Bretones P, Chabbert-Buffet N, Chanson P, Coutant R, de Warren M, Demaret B, Duranteau L, Eustache F, Gautheret L, Gelwane G, Gourbesville C, Grynberg M, Gueniche K, Jorgensen C, Kerlan V, Lebrun C, Lefevre C, Lorenzini F, Manouvrier S, Pienkowski C, Reynaud R, Reznik Y, Siffroi JP, Tabet AC, Tauber M, Vautier V, Tauveron I, Wambre S, Zenaty D, Netchine I, Polak M, Touraine P, Carel JC, Christin-Maitre S, Léger J. Fiot E, et al. Among authors: lefevre c. Orphanet J Rare Dis. 2022 Jul 12;17(Suppl 1):261. doi: 10.1186/s13023-022-02423-5. Orphanet J Rare Dis. 2022. PMID: 35821070 Free PMC article.
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, Baron S, Bensignor C, Brac De La Perriere A, Braik Djellas Y, Caillot M, Caldagues E, Campas MN, Caquard M, Cartault A, Cheignon J, Decrequy A, Delemer B, Dieckmann K, Donzeau A, Doye E, Fradin M, Gaudillière M, Gatelais F, Gorce M, Hazart I, Houcinat N, Houdon L, Ister-Salome M, Jozwiak L, Jeannoel P, Labarthe F, Lacombe D, Lambert AS, Lefevre C, Leheup B, Leroy C, Maisonneuve B, Marchand I, Marquant E, Muszlak M, Pantalone L, Pochelu S, Quelin C, Radet C, Renoult-Pierre P, Reynaud R, Rouleau S, Teinturier C, Thevenon J, Turlotte C, Valle A, Vierge M, Villanueva C, Ziegler A, Dieu X, Bouzamondo N, Rodien P, Prunier-Mirebeau D, Coutant R. Levaillant L, et al. Among authors: lefevre c. J Clin Endocrinol Metab. 2023 Aug 18;108(9):e779-e788. doi: 10.1210/clinem/dgad119. J Clin Endocrinol Metab. 2023. PMID: 36884306 Free PMC article.
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
Roucher-Boulez F, Mallet-Motak D, Samara-Boustani D, Jilani H, Ladjouze A, Souchon PF, Simon D, Nivot S, Heinrichs C, Ronze M, Bertagna X, Groisne L, Leheup B, Naud-Saudreau C, Blondin G, Lefevre C, Lemarchand L, Morel Y. Roucher-Boulez F, et al. Among authors: lefevre c. Eur J Endocrinol. 2016 Jul;175(1):73-84. doi: 10.1530/EJE-16-0056. Epub 2016 Apr 29. Eur J Endocrinol. 2016. PMID: 27129361 Free article.
Marker of coxsackievirus-B4 infection in saliva of patients with type 1 diabetes.
Badia-Boungou F, Sane F, Alidjinou EK, Ternois M, Opoko PA, Haddad J, Stukens C, Lefevre C, Gueorguieva I, Hamze M, Ismail M, Weill J, Monabéka HG, Bouenizabila E, Moukassa D, Abena AA, Hober D. Badia-Boungou F, et al. Among authors: lefevre c. Diabetes Metab Res Rev. 2017 Oct;33(7). doi: 10.1002/dmrr.2916. Epub 2017 Aug 30. Diabetes Metab Res Rev. 2017. PMID: 28719027
Accelerated DNA replication fork speed due to loss of R-loops in myelodysplastic syndromes with SF3B1 mutation.
Rombaut D, Lefèvre C, Rached T, Bondu S, Letessier A, Mangione RM, Farhat B, Lesieur-Pasquier A, Castillo-Guzman D, Boussaid I, Friedrich C, Tourville A, De Carvalho M, Levavasseur F, Leduc M, Le Gall M, Battault S, Temple M, Houy A, Bouscary D, Willems L, Park S, Raynaud S, Cluzeau T, Clappier E, Fenaux P, Adès L, Margueron R, Wassef M, Alsafadi S, Chapuis N, Kosmider O, Solary E, Constantinou A, Stern MH, Droin N, Palancade B, Miotto B, Chédin F, Fontenay M. Rombaut D, et al. Among authors: lefevre c. Nat Commun. 2024 Apr 8;15(1):3016. doi: 10.1038/s41467-024-46547-7. Nat Commun. 2024. PMID: 38589367 Free PMC article.
480 results