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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: contaldo i. 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.
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: contaldo i. 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
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
Zollino M, Orteschi D, Ruiter M, Pfundt R, Steindl K, Cafiero C, Ricciardi S, Contaldo I, Chieffo D, Ranalli D, Acquafondata C, Murdolo M, Marangi G, Asaro A, Battaglia D. Zollino M, et al. Among authors: contaldo i. Epilepsia. 2014 Jun;55(6):849-57. doi: 10.1111/epi.12617. Epub 2014 Apr 16. Epilepsia. 2014. PMID: 24738919 Free article.
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: contaldo i. 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
Cognitive-behavioral profiles in teenagers with Dravet syndrome.
Olivieri G, Battaglia D, Chieffo D, Rubbino R, Ranalli D, Contaldo I, Dravet C, Mercuri E, Guzzetta F. Olivieri G, et al. Among authors: contaldo i. Brain Dev. 2016 Jun;38(6):554-62. doi: 10.1016/j.braindev.2015.12.014. Epub 2016 Jan 18. Brain Dev. 2016. PMID: 26797655
Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.
Zollino M, Lattante S, Orteschi D, Frangella S, Doronzio PN, Contaldo I, Mercuri E, Marangi G. Zollino M, et al. Among authors: contaldo i. Front Neurosci. 2017 Oct 18;11:587. doi: 10.3389/fnins.2017.00587. eCollection 2017. Front Neurosci. 2017. PMID: 29093661 Free PMC article. Review.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. Among authors: contaldo i. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
45 results