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Page 1
How dietary advanced glycation end products could facilitate the occurrence of food allergy.
Paparo L, Coppola S, Nocerino R, Pisapia L, Picariello G, Cortese M, Voto L, Maglio M, Miele E, Carucci L, Oglio F, Trinchese G, Mollica MP, Bruno C, De Vita S, Tarallo A, Damiano C, Cerulo M, Esposito C, Fogliano V, Parenti G, Troncone R, Berni Canani R. Paparo L, et al. Among authors: parenti g. J Allergy Clin Immunol. 2024 Mar;153(3):742-758. doi: 10.1016/j.jaci.2023.11.023. Epub 2023 Nov 30. J Allergy Clin Immunol. 2024. PMID: 38042501 Free article.
Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta F, Uomo F, Fecarotta S, Albano L, Crisci D, Verde A, Fisco MG, Gallo G, Dottore Stagna D, Pricolo MR, Alagia M, Terrone G, Rossi A, Parenti G, Ruoppolo M, Mazzaccara C, Frisso G. Barretta F, et al. Among authors: parenti g. Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980. Genes (Basel). 2023. PMID: 37239340 Free PMC article.
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: parenti g. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, Russo G, Salerno M, Striano P, Valerio G, Wasniewska M; Italian Academy of Pediatrics, Italian Society of Pediatrics, Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine, Italian Society of Child and Adolescent Neuropsychiatry. Calcaterra V, et al. Ital J Pediatr. 2024 Apr 18;50(1):73. doi: 10.1186/s13052-024-01644-7. Ital J Pediatr. 2024. PMID: 38637868 Free PMC article.
401 results