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Page 1
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: nugues f. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Hereditary angioedema in children: Review and practical perspective for clinical management.
Pagnier A, Dermesropian A, Kevorkian-Verguet C, Bourgoin-Heck M, Hoarau C, Reumaux H, Nugues F, Audouin-Pajot C, Blanc S, Carbasse A, Jurquet AL, Voidey M, Villedieu M, Bouillet L, Boccon-Gibod I. Pagnier A, et al. Among authors: nugues f. Pediatr Allergy Immunol. 2024 Dec;35(12):e14268. doi: 10.1111/pai.14268. Pediatr Allergy Immunol. 2024. PMID: 39655944 Free PMC article. Review.
Application of the OMERACT synovitis ultrasound scoring system in juvenile idiopathic arthritis: a multicenter reliability exercise.
Rossi-Semerano L, Breton S, Semerano L, Boubaya M, Ohanyan H, Bossert M, Boiu S, Chatelus E, Durand G, Jean S, Goumy L, Mathiot A, Mouterde G, Nugues F, Ould Hennia A, Rey B, Von Scheven A, Sparsa L, Devauchelle-Pensec V, Jousse-Joulin S. Rossi-Semerano L, et al. Among authors: nugues f. Rheumatology (Oxford). 2021 Aug 2;60(8):3579-3587. doi: 10.1093/rheumatology/keaa804. Rheumatology (Oxford). 2021. PMID: 33374013
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. Carrera-García L, et al. Among authors: nugues f. Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14. Am J Med Genet A. 2019. PMID: 30868735 Review.
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Piard J, et al. Among authors: nugues f. Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Am J Med Genet A. 2018. PMID: 29341480 Free PMC article. Review.
Reconsidering olfactory bulb magnetic resonance patterns in Kallmann syndrome.
Hacquart T, Ltaief-Boudrigua A, Jeannerod C, Hannoun S, Raverot G, Pugeat M, Brac de la Perriere A, Lapras V, Nugues F, Dode C, Cotton F. Hacquart T, et al. Among authors: nugues f. Ann Endocrinol (Paris). 2017 Oct;78(5):455-461. doi: 10.1016/j.ando.2016.12.003. Epub 2017 Aug 12. Ann Endocrinol (Paris). 2017. PMID: 28807454
[Neonatal hyperthyroidism: A sometimes challenging diagnosis].
Couturier C, Cneude F, Spiteri A, Nugues F, Debillon T. Couturier C, et al. Among authors: nugues f. Arch Pediatr. 2017 Jul;24(7):622-624. doi: 10.1016/j.arcped.2017.04.012. Epub 2017 Jun 3. Arch Pediatr. 2017. PMID: 28583776 French.
33 results