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Items: 1 to 20 of 135

1.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R.

Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25.

PMID:
30683929
2.

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder.

Scuderi C, Saccuzzo L, Vinci M, Castiglia L, Galesi O, Salemi M, Mattina T, Borgione E, Città S, Romano C, Fichera M.

Eur J Hum Genet. 2019 Apr;27(4):594-602. doi: 10.1038/s41431-018-0321-1. Epub 2019 Jan 18.

PMID:
30659260
3.

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.

Fichera M, Failla P, Saccuzzo L, Miceli M, Salvo E, Castiglia L, Galesi O, Grillo L, Calì F, Greco D, Amato C, Romano C, Elia M.

Hum Genet. 2019 Feb;138(2):187-198. doi: 10.1007/s00439-019-01972-3. Epub 2019 Jan 17.

PMID:
30656450
4.

Use of pre-operative imaging for symptomatic uterine myomas during pregnancy: a case report and a systematic literature review.

Valenti G, Milone P, D'Amico S, Caldaci LMG, Vitagliano A, Sapia F, Fichera M.

Arch Gynecol Obstet. 2019 Jan;299(1):13-33. doi: 10.1007/s00404-018-4948-5. Epub 2018 Oct 29. Review.

PMID:
30374647
5.

35-Week twin delivery after embryo reduction at 11 weeks and subsequent expulsion of a dead foetus at 20.

Giunta G, Fichera M, Caruso S, La Rosa B, Ferrara M, Iuculano A, Monni G, Cianci A.

J Obstet Gynaecol. 2019 May;39(4):539-540. doi: 10.1080/01443615.2018.1496075. Epub 2018 Oct 27. No abstract available.

PMID:
30370801
6.

Impedance Spectroscopic Detection of Binding and Reactions in Acid-Labile Dielectric Polymers for Biosensor Applications.

Dailey J, Fichera M, Silbergeld E, Katz H.

J Mater Chem B. 2018 May 21;6(19):2972-2981. doi: 10.1039/C7TB03171H. Epub 2018 Apr 19.

7.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

8.

Bi-hemispheric repetitive transcranial magnetic stimulation for upper limb motor recovery in chronic stroke: A feasibility study.

Chieffo R, Scopelliti G, Fichera M, Santangelo R, Guerrieri S, Zangen A, Comi G, Leocani L.

Brain Stimul. 2018 Jul - Aug;11(4):932-934. doi: 10.1016/j.brs.2018.03.013. Epub 2018 Mar 15. No abstract available.

PMID:
29605529
9.

Virtual Chromoendoscopy With FICE for the Classification of Polypoid and Nonpolypoid Raised Lesions in Ulcerative Colitis.

Cassinotti A, Buffoli F, Fociani P, Staiano T, Villanacci V, Nebuloni M, Duca P, Fichera M, Grassia R, Manes G, Salemme M, Molteni P, Sampietro G, Foschi D, de Franchis R, Ardizzone S.

J Clin Gastroenterol. 2019 Apr;53(4):269-276. doi: 10.1097/MCG.0000000000000974.

PMID:
29394176
10.

Weight gain after subthalamic nucleus deep brain stimulation in Parkinson's disease is influenced by dyskinesias' reduction and electrodes' position.

Balestrino R, Baroncini D, Fichera M, Donofrio CA, Franzin A, Mortini P, Comi G, Volontè MA.

Neurol Sci. 2017 Dec;38(12):2123-2129. doi: 10.1007/s10072-017-3102-7. Epub 2017 Sep 14.

PMID:
28913772
11.

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T, Rizzo R.

Am J Med Genet A. 2017 Jun;173(6):1649-1655. doi: 10.1002/ajmg.a.38205. Epub 2017 Apr 13.

PMID:
28407444
12.

Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase.

Fichera GA, Fichera M, Milone G.

Anticancer Drugs. 2016 Aug;27(7):609-19. doi: 10.1097/CAD.0000000000000367.

13.

Proteomic Characterization of Head and Neck Cancer Patient-Derived Xenografts.

Li H, Wheeler S, Park Y, Ju Z, Thomas SM, Fichera M, Egloff AM, Lui VW, Duvvuri U, Bauman JE, Mills GB, Grandis JR.

Mol Cancer Res. 2016 Mar;14(3):278-86. doi: 10.1158/1541-7786.MCR-15-0354. Epub 2015 Dec 18.

14.

Different Tissue-Derived Stem Cells: A Comparison of Neural Differentiation Capability.

Bonaventura G, Chamayou S, Liprino A, Guglielmino A, Fichera M, Caruso M, Barcellona ML.

PLoS One. 2015 Oct 30;10(10):e0140790. doi: 10.1371/journal.pone.0140790. eCollection 2015.

15.

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability.

Bianciardi L, Fichera M, Failla P, Di Marco C, Grozeva D, Mencarelli MA, Spiga O, Mari F, Meloni I, Raymond L, Renieri A, Romano C, Ariani F.

J Hum Genet. 2016 Feb;61(2):95-101. doi: 10.1038/jhg.2015.118. Epub 2015 Oct 22.

16.

Recurrent duplications of 17q12 associated with variable phenotypes.

Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC.

Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30.

PMID:
26420380
17.

Drawing in Alzheimer-type dementia.

Fichera M, Bernasconi MP, Martinelli V, Comi G, Volonté MA.

Neurology. 2015 Jul 28;85(4):386-7. doi: 10.1212/WNL.0000000000001789. No abstract available.

PMID:
26215879
18.

d-chiro-Inositol and alpha lipoic acid treatment of metabolic and menses disorders in women with PCOS.

Cianci A, Panella M, Fichera M, Falduzzi C, Bartolo M, Caruso S.

Gynecol Endocrinol. 2015 Jun;31(6):483-6. doi: 10.3109/09513590.2015.1014784. Epub 2015 Apr 20.

PMID:
25893270
19.

Mongersen, an oral SMAD7 antisense oligonucleotide, and Crohn's disease.

Monteleone G, Neurath MF, Ardizzone S, Di Sabatino A, Fantini MC, Castiglione F, Scribano ML, Armuzzi A, Caprioli F, Sturniolo GC, Rogai F, Vecchi M, Atreya R, Bossa F, Onali S, Fichera M, Corazza GR, Biancone L, Savarino V, Pica R, Orlando A, Pallone F.

N Engl J Med. 2015 Mar 19;372(12):1104-13. doi: 10.1056/NEJMoa1407250.

20.

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE.

Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24.

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