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Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M. Rinaldi B, et al. Among authors: gobbi g. Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Orphanet J Rare Dis. 2017. PMID: 28399932 Free PMC article. Review.
The ring 14 syndrome.
Zollino M, Ponzi E, Gobbi G, Neri G. Zollino M, et al. Among authors: gobbi g. Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14. Eur J Med Genet. 2012. PMID: 22564756 Review.
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.
Giovannini S, Marangio L, Fusco C, Scarano A, Frattini D, Della Giustina E, Zollino M, Neri G, Gobbi G. Giovannini S, et al. Among authors: gobbi g. Epilepsia. 2013 Dec;54(12):2204-13. doi: 10.1111/epi.12393. Epub 2013 Oct 1. Epilepsia. 2013. PMID: 24116895 Free article.
"Minimal" holoprosencephaly in a 14q deletion syndrome patient.
Della Giustina E, Iodice A, Spagnoli C, Giovannini S, Frattini D, Fusco C, Gobbi G, Zollino M, Neri G. Della Giustina E, et al. Among authors: gobbi g. Am J Med Genet A. 2017 Dec;173(12):3216-3220. doi: 10.1002/ajmg.a.38378. Am J Med Genet A. 2017. PMID: 29136354
The ring 14 syndrome: clinical and molecular definition.
Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G. Zollino M, et al. Among authors: gobbi g. Am J Med Genet A. 2009 Jun;149A(6):1116-24. doi: 10.1002/ajmg.a.32831. Am J Med Genet A. 2009. PMID: 19441122
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P. Raviglione F, et al. Among authors: gobbi g. Seizure. 2021 May;88:60-72. doi: 10.1016/j.seizure.2021.03.025. Epub 2021 Mar 30. Seizure. 2021. PMID: 33831796 Free article.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: gobbi g. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
Chromosome 18 aberrations and epilepsy: a review.
Grosso S, Pucci L, Di Bartolo RM, Gobbi G, Bartalini G, Anichini C, Scarinci R, Balestri M, Farnetani MA, Cioni M, Morgese G, Balestri P. Grosso S, et al. Among authors: gobbi g. Am J Med Genet A. 2005 Apr 1;134A(1):88-94. doi: 10.1002/ajmg.a.30575. Am J Med Genet A. 2005. PMID: 15690352
447 results