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

Year Number of Results
2004 2
2006 1
2008 5
2009 6
2010 3
2011 3
2012 3
2013 8
2014 4
2015 18
2016 13
2017 8
2018 8
2019 7
2020 5
2021 12
2022 14
2023 10
2024 2

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115 results

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Page 1
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.
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.
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
New treatment modalities for obesity.
Grandone A, Di Sessa A, Umano GR, Toraldo R, Miraglia Del Giudice E. Grandone A, et al. Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):535-549. doi: 10.1016/j.beem.2018.06.007. Epub 2018 Jun 25. Best Pract Res Clin Endocrinol Metab. 2018. PMID: 30086873 Review.
DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.
Spinelli C, Ghionzoli M, Sahli LI, Guglielmo C, Frascella S, Romano S, Ferrari C, Gennari F, Conzo G, Morganti R, De Napoli L, Quaglietta L, De Martino L, Picariello S, Grandone A, Luongo C, Gambale A, Patrizio A, Fallahi P, Antonelli A, Ferrari SM. Spinelli C, et al. Among authors: grandone a. Cancers (Basel). 2023 Jul 19;15(14):3681. doi: 10.3390/cancers15143681. Cancers (Basel). 2023. PMID: 37509342 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.
A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Palumbo S, Cirillo G, Sanchez G, Aiello F, Fachin A, Baldo F, Pellegrin MC, Cassio A, Salerno M, Maghnie M, Faienza MF, Wasniewska M, Fintini D, Giacomozzi C, Ciccone S, Miraglia Del Giudice E, Tornese G, Grandone A. Palumbo S, et al. Among authors: grandone a. J Endocrinol Invest. 2023 Jun;46(6):1233-1240. doi: 10.1007/s40618-022-01997-y. Epub 2022 Dec 28. J Endocrinol Invest. 2023. PMID: 36577869
115 results