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126 results

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Page 1
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: puzenat e. Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26. Clin Genet. 2015. PMID: 24635570
Effectiveness of biologic therapies in children with palmoplantar plaque psoriasis: An analysis of real-life data from the BiPe cohorts.
Hanafi B, Beauchet A, Di Lernia V, Lasek A, Severino-Freire M, Barbarot S, Hadj-Rabia S, Phan A, Bursztejn AC, Maruani A, Chaby G, Quiles-Tsimaratos N, Phan C, Zitouni J, Mazereeuw-Hautier J, Mahé E; Groupe de Recherche sur le Psoriasis (GrPso) of the Société Française de Dermatologie (SFD), Groupe de Recherche de la Société Française de Dermatologie Pédiatrique (GR SFDP), and Società Italiana di Dermatologia Pediatrica (S.I.Der.P.). Hanafi B, et al. Pediatr Dermatol. 2023 Sep-Oct;40(5):835-840. doi: 10.1111/pde.15393. Epub 2023 Jul 13. Pediatr Dermatol. 2023. PMID: 37442765
Perception and Experience of Dupilumab in Atopic Dermatitis: A Real-Life Study.
Antoine L, Puzenat E, Popescu D, Charollais R, Dresco F, Dupond AS, Salard D, Drobacheff-Thiebaut MC, Zanella A, Ducournau A, Gallais-Serezal I, Aubin F. Antoine L, et al. Among authors: puzenat e. Patient Prefer Adherence. 2023 Sep 15;17:2289-2293. doi: 10.2147/PPA.S419655. eCollection 2023. Patient Prefer Adherence. 2023. PMID: 37731747 Free PMC article.
Efficacy of Immune Checkpoint Inhibitor (ICI) Rechallenge in Advanced Melanoma Patients' Responders to a First Course of ICI: A Multicenter National Retrospective Study of the French Group of Skin Cancers (Groupe de Cancérologie Cutanée, GCC).
Nardin C, Hennemann A, Diallo K, Funck-Brentano E, Puzenat E, Heidelberger V, Jeudy G, Samimi M, Lesage C, Boussemart L, Peuvrel L, Rouanet J, Brunet-Possenti F, Gerard E, Seris A, Jouary T, Saint-Jean M, Puyraveau M, Saiag P, Aubin F. Nardin C, et al. Among authors: puzenat e. Cancers (Basel). 2023 Jul 10;15(14):3564. doi: 10.3390/cancers15143564. Cancers (Basel). 2023. PMID: 37509227 Free PMC article.
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C. Piard J, et al. Among authors: puzenat e. Eur J Med Genet. 2012 Jan;55(1):8-11. doi: 10.1016/j.ejmg.2011.07.004. Epub 2011 Aug 18. Eur J Med Genet. 2012. PMID: 21872685
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S. Mercier S, et al. Among authors: puzenat e. Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Orphanet J Rare Dis. 2015. PMID: 26471370 Free PMC article.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: puzenat e. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
126 results