Elia M - Search Results

1

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies.

Vetri L, Calì F, Saccone S, Vinci M, Chiavetta NV, Carotenuto M, Roccella M, Costanza C, Elia M. Vetri L, et al. Among authors: elia m. Int J Mol Sci. 2024 Jan 17;25(2):1146. doi: 10.3390/ijms25021146. Int J Mol Sci. 2024. PMID: 38256219 Free PMC article.

2

Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families.

Romano V, Calì F, Seidita G, Mirisola M, D'Anna RP, Gambino G, Schinocca P, Romano S, Ayala GF, Canziani F, De Leo G, Elia M. Romano V, et al. Among authors: elia m. Psychiatr Genet. 2005 Jun;15(2):149-50. doi: 10.1097/00041444-200506000-00013. Psychiatr Genet. 2005. PMID: 15900231

3

Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study.

Miano S, Bruni O, Elia M, Trovato A, Smerieri A, Verrillo E, Roccella M, Terzano MG, Ferri R. Miano S, et al. Among authors: elia m. Sleep Med. 2007 Dec;9(1):64-70. doi: 10.1016/j.sleep.2007.01.014. Epub 2007 Aug 28. Sleep Med. 2007. PMID: 17728182

4

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M. Elia M, et al. Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88. Neurology. 2008. PMID: 18809835

5

Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome.

Cali F, Ragalmuto A, Chiavetta V, Calabrese G, Fichera M, Vinci M, Ruggeri G, Schinocca P, Sturnio M, Romano S, Romano V, Elia M. Cali F, et al. Among authors: elia m. Exp Mol Med. 2010 Dec 31;42(12):842-8. doi: 10.3858/emm.2010.42.12.087. Exp Mol Med. 2010. PMID: 21072004 Free PMC article.

6

Polysomnographic findings in Rett syndrome: a case-control study.

Carotenuto M, Esposito M, D'Aniello A, Rippa CD, Precenzano F, Pascotto A, Bravaccio C, Elia M. Carotenuto M, et al. Among authors: elia m. Sleep Breath. 2013 Mar;17(1):93-8. doi: 10.1007/s11325-012-0654-x. Epub 2012 Mar 7. Sleep Breath. 2013. PMID: 22392651

7

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

Elia M, Amato C, Bottitta M, Grillo L, Calabrese G, Esposito M, Carotenuto M. Elia M, et al. Brain Dev. 2012 Nov;34(10):873-6. doi: 10.1016/j.braindev.2012.03.005. Epub 2012 Apr 1. Brain Dev. 2012. PMID: 22469695

8

Sleep alterations in children with refractory epileptic encephalopathies: a polysomnographic study.

Carotenuto M, Parisi P, Esposito M, Cortese S, Elia M. Carotenuto M, et al. Among authors: elia m. Epilepsy Behav. 2014 Jun;35:50-3. doi: 10.1016/j.yebeh.2014.03.009. Epub 2014 May 4. Epilepsy Behav. 2014. PMID: 24802904

9

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F, Chiavetta V, Ruggeri G, Piccione M, Selicorni A, Palazzo D, Bonsignore M, Cereda A, Elia M, Failla P, Figura MG, Fiumara A, Maitz S, Luana Mandarà GM, Mattina T, Ragalmuto A, Romano C, Ruggieri M, Salluzzo R, Saporoso A, Schepis C, Sorge G, Spanò M, Tortorella G, Romano V. Calì F, et al. Among authors: elia m. Eur J Med Genet. 2017 Feb;60(2):93-99. doi: 10.1016/j.ejmg.2016.11.001. Epub 2016 Nov 9. Eur J Med Genet. 2017. PMID: 27838393

10

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

Salemi M, Cali' F, Giambirtone M, Elia M, Romano C. Salemi M, et al. Among authors: elia m. Acta Neurol Belg. 2020 Apr;120(2):381-383. doi: 10.1007/s13760-017-0818-3. Epub 2017 Jul 19. Acta Neurol Belg. 2020. PMID: 28726039 No abstract available.

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