Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

124 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: puzenat e. J Exp Med. 2024 Jun 3;221(6):e20232387. doi: 10.1084/jem.20232387. Epub 2024 Apr 2. J Exp Med. 2024. PMID: 38563820
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: puzenat e. J Exp Med. 2024 Jun 3;221(6):e2023238704302024c. doi: 10.1084/jem.2023238704302024c. Epub 2024 May 6. J Exp Med. 2024. PMID: 38709237 Free PMC article. No abstract available.
Primary intestinal lymphangiectasia: A case report.
Antoine L, Chotard M, Koch S, Aubin F, Puzenat E. Antoine L, et al. Among authors: puzenat e. J Pediatr Gastroenterol Nutr. 2024 May;78(5):1197-1198. doi: 10.1002/jpn3.12093. Epub 2023 Dec 27. J Pediatr Gastroenterol Nutr. 2024. PMID: 38695601 No abstract available.
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Kuentz P, Engel C, Laeng M, Chevarin M, Duffourd Y, Martel J, Piard J, Morice-Picard F, Aubert H, Bessis D, Guerrot AM, Maruani A, Boccara O, Mazereeuw-Hautier J, Ott H, Phan A, Puzenat E, Quelin C, Thauvin-Robinet C, Faivre L, Vabres P. Kuentz P, et al. Among authors: puzenat e. Br J Dermatol. 2024 Apr 16:ljae167. doi: 10.1093/bjd/ljae167. Online ahead of print. Br J Dermatol. 2024. PMID: 38623710 No abstract available.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
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.
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
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.
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
124 results