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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2006 1
2008 2
2009 3
2010 2
2011 3
2012 1
2013 7
2014 4
2015 15
2016 9
2017 6
2018 7
2019 6
2020 5
2021 12
2022 11
2023 8
2024 2

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93 results

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Page 1
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: grandone a. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Editorial: Genetic, epigenetic and molecular landscaping of puberty.
Howard SR, Fanis P, Nicolaides NC, Grandone A. Howard SR, et al. Among authors: grandone a. Front Endocrinol (Lausanne). 2023 Mar 16;14:1178888. doi: 10.3389/fendo.2023.1178888. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37008930 Free PMC article. No abstract available.
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.
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D, Torella A, Grandone A, Luongo C, Morleo M, Peduto C, di Fraia R, Selvaggio LD, Allosso F, Accardo G, Zanobio MT, Maitz S, Mariani M, Selicorni A, Banfi S, Nigro V; TUDP Study Group. Pasquali D, et al. Among authors: grandone a. Am J Med Genet A. 2023 Mar;191(3):823-830. doi: 10.1002/ajmg.a.63061. Epub 2022 Nov 24. Am J Med Genet A. 2023. PMID: 36420948
MKRN3 role in regulating pubertal onset: the state of art of functional studies.
Palumbo S, Cirillo G, Aiello F, Papparella A, Miraglia Del Giudice E, Grandone A. Palumbo S, et al. Among authors: grandone a. Front Endocrinol (Lausanne). 2022 Sep 16;13:991322. doi: 10.3389/fendo.2022.991322. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36187104 Free PMC article. Review.
Central Precocious Puberty in Italian Boys: Data From a Large Nationwide Cohort.
Cassio A, Marescotti G, Aversa T, Salerno M, Tornese G, Stancampiano M, Tuli G, Faienza MF, Cavarzere P, Fava D, Parpagnoli M, Bruzzi P, Ibba A, Calcaterra V, Mameli C, Grandone A, Cherubini V, Assirelli V, Franchina F, Capalbo D, Mase RD, Tamaro G, Cavasin J, Munarin J, Russo G, Wasniewska M; Physiopathology of Growth Processes and Puberty Study Group of the Italian Society for Pediatric Endocrinology and Diabetology. Cassio A, et al. Among authors: grandone a. J Clin Endocrinol Metab. 2024 Feb 3:dgae035. doi: 10.1210/clinem/dgae035. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38308814
93 results