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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome.
Fiorentini E, Giunti L, Di Rita A, Peraio S, Fonte C, Caporalini C, Buccoliero AM, Censullo ML, Gori G, Noris A, Pasquariello R, Battini R, Pavone R, Giordano F, Giglio S, Rinaldi B. Fiorentini E, et al. Among authors: giglio s. Eur J Med Genet. 2023 Jul;66(7):104784. doi: 10.1016/j.ejmg.2023.104784. Epub 2023 May 8. Eur J Med Genet. 2023. PMID: 37164167 Free article.
Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech.
Formicola D, Podda I, Pantaleo M, Andreucci E, Lopergolo D, Giglio S, Santorelli FM, Chilosi A. Formicola D, et al. Among authors: giglio s. Neuropediatrics. 2023 Dec;54(6):407-411. doi: 10.1055/s-0043-1771033. Epub 2023 Aug 7. Neuropediatrics. 2023. PMID: 37549685
The Italian guidelines on non-invasive and invasive prenatal diagnosis: Executive summary of recommendations for practice the Italian Society for Obstetrics and Gynecology (SIGO).
Stampalija T, Ghi T, Barbieri M, Morlando M, Di Pasquo E, Formigoni C, Ferrazzi E; Chair and Methodological Group; Promoting Committee; Working Group on Non-invasive Prenatal Diagnosis; Working Group on Invasive Prenatal Diagnosis; Working Group Secretariat; Panel of Experts Delegated by Scientific Societies and Stakeholders; External Auditors. Stampalija T, et al. Eur J Obstet Gynecol Reprod Biol. 2024 Sep;300:171-174. doi: 10.1016/j.ejogrb.2024.07.012. Epub 2024 Jul 8. Eur J Obstet Gynecol Reprod Biol. 2024. PMID: 39013327 Free article. No abstract available.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: giglio s. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: giglio s. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Mei D, Balestrini S, Parrini E, Gambardella A, Annesi G, De Giorgis V, Gana S, Bassi MT, Zucca C, Elia M, Vetri L, Castellotti B, Ragona F, Mastrangelo M, Pisani F, d'Orsi G, Carella M, Pruna D, Giglio S, Marini C, Cesaroni E, Riva A, Scala M, Licchetta L, Minardi R, Contaldo I, Gambardella ML, Cossu A, Proietti J, Cantalupo G; LICE Collaborative Group; Trivisano M, De Dominicis A, Specchio N, Tassi L, Guerrini R. Mei D, et al. Among authors: giglio s. J Med Genet. 2024 Dec 22:jmg-2024-110328. doi: 10.1136/jmg-2024-110328. Online ahead of print. J Med Genet. 2024. PMID: 39613335 Free article.
MICA and NKG2D gene polymorphisms influence graft survival, and response to therapy in kidney transplantation.
Littera R, Mocci S, Argiolas D, Littarru L, Lai S, Melis M, Sanna C, Mereu C, Lorrai M, Mascia A, Angioi A, Mascia G, Matta V, Lepori N, Floris M, Manieli C, Bianco P, Onnis D, Rassu S, Deidda S, Carta MG, Giuressi E, Perra A, Chessa L, Giglio S, Pani A. Littera R, et al. Among authors: giglio s. Front Immunol. 2024 Nov 7;15:1440887. doi: 10.3389/fimmu.2024.1440887. eCollection 2024. Front Immunol. 2024. PMID: 39575256 Free PMC article.
225 results