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662 results

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Page 1
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Zollino M, Marangi G, Ponzi E, Orteschi D, Ricciardi S, Lattante S, Murdolo M, Battaglia D, Contaldo I, Mercuri E, Stefanini MC, Caumes R, Edery P, Rossi M, Piccione M, Corsello G, Della Monica M, Scarano F, Priolo M, Gentile M, Zampino G, Vijzelaar R, Abdulrahman O, Rauch A, Oneda B, Deardorff MA, Saitta SC, Falk MJ, Dubbs H, Zackai E. Zollino M, et al. Among authors: mercuri e. J Med Genet. 2015 Dec;52(12):804-14. doi: 10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. J Med Genet. 2015. PMID: 26424144
Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design.
Tiziano FD, Lomastro R, Pinto AM, Messina S, D'Amico A, Fiori S, Angelozzi C, Pane M, Mercuri E, Bertini E, Neri G, Brahe C. Tiziano FD, et al. Among authors: mercuri e. J Med Genet. 2010 Dec;47(12):856-8. doi: 10.1136/jmg.2010.080366. Epub 2010 Sep 12. J Med Genet. 2010. PMID: 20837492 Clinical Trial.
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
Alfieri P, Cesarini L, De Rose P, Ricci D, Selicorni A, Menghini D, Guzzetta A, Baranello G, Tinelli F, Mallardi M, Zampino G, Vicari S, Atkinson J, Mercuri E. Alfieri P, et al. Among authors: mercuri e. Am J Med Genet A. 2011 Oct;155A(10):2459-64. doi: 10.1002/ajmg.a.34229. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910245
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation.
Battaglia D, Lin YW, Brogna C, Crinò A, Grasso V, Mozzi AF, Russo L, Spera S, Colombo C, Ricci S, Nichols CG, Mercuri E, Barbetti F. Battaglia D, et al. Among authors: mercuri e. Pediatr Diabetes. 2012 Dec;13(8):656-60. doi: 10.1111/j.1399-5448.2012.00874.x. Epub 2012 Jun 14. Pediatr Diabetes. 2012. PMID: 22694282 Free PMC article.
Cognitive decline in Dravet syndrome: is there a cerebellar role?
Battaglia D, Chieffo D, Siracusano R, Waure Cd, Brogna C, Ranalli D, Contaldo I, Tortorella G, Dravet C, Mercuri E, Guzzetta F. Battaglia D, et al. Among authors: mercuri e. Epilepsy Res. 2013 Sep;106(1-2):211-21. doi: 10.1016/j.eplepsyres.2013.03.012. Epub 2013 Apr 30. Epilepsy Res. 2013. PMID: 23642572
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Alfieri P, et al. Among authors: mercuri e. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458522
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek AM, Zollino M. Cafiero C, et al. Among authors: mercuri e. Eur J Hum Genet. 2015 Nov;23(11):1499-504. doi: 10.1038/ejhg.2015.19. Epub 2015 Feb 25. Eur J Hum Genet. 2015. PMID: 25712080 Free PMC article.
662 results