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A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.
Parissone F, Pucci M, Meneghelli E, Zuffardi O, Di Paola R, Zaffagnini S, Franchi M, Santangelo E, Cantalupo G, Cavarzere P, Antoniazzi F, Piacentini G, Gaudino R. Parissone F, et al. Among authors: cantalupo g. Int J Pediatr Endocrinol. 2020;2020:1. doi: 10.1186/s13633-019-0071-z. Epub 2020 Jan 9. Int J Pediatr Endocrinol. 2020. PMID: 31938033 Free PMC article.
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Cossu A, Santos JL, Galati G, Nikanorova M, Costa P, Mang Y, Silahtaroglu A, Rubboli G, Tommerup N, Dalla Bernardina B, Møller RS, Cantalupo G, Gardella E. Cossu A, et al. Among authors: cantalupo g. Neurol Sci. 2023 Jun;44(6):2173-2176. doi: 10.1007/s10072-023-06735-7. Epub 2023 Mar 13. Neurol Sci. 2023. PMID: 36913149
Traduzione e adattamento alla lingua italiana del glossario dei termini più comunemente usati dagli elettroencefalografisti clinici e proposta per il formato del referto EEG (Revisione IFCN 2017).
Strigaro G, Bisulli F, Assenza G, Mecarelli O, Grippo A, Meletti S; ON BEHLAF OF LICE-SINC Glossary Study Group. Strigaro G, et al. Clin Neurophysiol Pract. 2022 Nov 8;7:325-365. doi: 10.1016/j.cnp.2022.09.006. eCollection 2022. Clin Neurophysiol Pract. 2022. PMID: 36471820 Free PMC article. Review. No abstract available.
Relapse risk factors in anti-N-methyl-D-aspartate receptor encephalitis.
Nosadini M, Granata T, Matricardi S, Freri E, Ragona F, Papetti L, Suppiej A, Valeriani M, Sartori S; Italian Working Group on Paediatric Anti-N-methyl-D-aspartate Receptor Encephalitis. Nosadini M, et al. Dev Med Child Neurol. 2019 Sep;61(9):1101-1107. doi: 10.1111/dmcn.14267. Epub 2019 Jun 7. Dev Med Child Neurol. 2019. PMID: 31175679 Free article.
Sleep disordered breathing in children with achondroplasia.
Zaffanello M, Cantalupo G, Piacentini G, Gasperi E, Nosetti L, Cavarzere P, Ramaroli DA, Mittal A, Antoniazzi F. Zaffanello M, et al. Among authors: cantalupo g. World J Pediatr. 2017 Feb;13(1):8-14. doi: 10.1007/s12519-016-0051-9. Epub 2016 Oct 15. World J Pediatr. 2017. PMID: 27830579 Review.
Pure Red Cell Aplasia (PRCA) and Cerebellar Hypoplasia as Atypical Features of Polyglandular Autoimmune Syndrome Type I (APS-1): Two Sisters With the Same AIRE Mutation but Different Phenotypes.
Chinello M, Mauro M, Cantalupo G, Balter R, De Bortoli M, Vitale V, Zaccaron A, Bonetti E, Gaudino R, Fiorini E, Cesaro S. Chinello M, et al. Among authors: cantalupo g. Front Pediatr. 2019 Feb 26;7:51. doi: 10.3389/fped.2019.00051. eCollection 2019. Front Pediatr. 2019. PMID: 30863741 Free PMC article.
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A, Rodella G, Dianin A, Nurti R, Monge I, Rigotti E, Cantalupo G, Salviati L, Tucci S, Pellegrini F, Molinaro G, Lupi F, Tonin P, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: cantalupo g. Mol Genet Metab Rep. 2020 Aug 5;24:100632. doi: 10.1016/j.ymgmr.2020.100632. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32793418 Free PMC article.
125 results