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Items: 13

1.

The contribution of CNVs to the most common aging-related neurodegenerative diseases.

Gentile G, La Cognata V, Cavallaro S.

Aging Clin Exp Res. 2020 Feb 6. doi: 10.1007/s40520-020-01485-4. [Epub ahead of print] Review.

PMID:
32026430
2.

Splicing Players Are Differently Expressed in Sporadic Amyotrophic Lateral Sclerosis Molecular Clusters and Brain Regions.

La Cognata V, Gentile G, Aronica E, Cavallaro S.

Cells. 2020 Jan 8;9(1). pii: E159. doi: 10.3390/cells9010159.

3.

Translational Medicine in Neurological Disorders: A Genomic Perspective.

Gentile G, Cavallaro S.

Curr Genomics. 2019 Apr;20(3):151-153. doi: 10.2174/138920292003190704143857. No abstract available.

4.

Impact of infertility and infertility treatments on quality of life and levels of anxiety and depression in women undergoing in vitro fertilization.

Massarotti C, Gentile G, Ferreccio C, Scaruffi P, Remorgida V, Anserini P.

Gynecol Endocrinol. 2019 Jun;35(6):485-489. doi: 10.1080/09513590.2018.1540575. Epub 2019 Jan 7.

PMID:
30612477
5.

ALS and CHARGE syndrome: a clinical and genetic study.

Ungaro C, Citrigno L, Trojsi F, Sprovieri T, Gentile G, Muglia M, Monsurrò MR, Tedeschi G, Cavallaro S, Conforti FL.

Acta Neurol Belg. 2018 Dec;118(4):629-635. doi: 10.1007/s13760-018-1029-2. Epub 2018 Oct 13.

6.

NeuroArray: A Customized aCGH for the Analysis of Copy Number Variations in Neurological Disorders.

La Cognata V, Morello G, Gentile G, Cavalcanti F, Cittadella R, Conforti FL, De Marco EV, Magariello A, Muglia M, Patitucci A, Spadafora P, D'Agata V, Ruggieri M, Cavallaro S.

Curr Genomics. 2018 Sep;19(6):431-443. doi: 10.2174/1389202919666180404105451.

7.

Editorial: Copy Number Variants in Neurological Disorder.

Gentile G, Cavallaro S.

Curr Genomics. 2018 Sep;19(6):411. No abstract available.

8.

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.

Fetoni AR, Zorzi V, Paciello F, Ziraldo G, Peres C, Raspa M, Scavizzi F, Salvatore AM, Crispino G, Tognola G, Gentile G, Spampinato AG, Cuccaro D, Guarnaccia M, Morello G, Van Camp G, Fransen E, Brumat M, Girotto G, Paludetti G, Gasparini P, Cavallaro S, Mammano F.

Redox Biol. 2018 Oct;19:301-317. doi: 10.1016/j.redox.2018.08.002. Epub 2018 Aug 7.

9.

Functional Genomics Identifies Tis21-Dependent Mechanisms and Putative Cancer Drug Targets Underlying Medulloblastoma Shh-Type Development.

Gentile G, Ceccarelli M, Micheli L, Tirone F, Cavallaro S.

Front Pharmacol. 2016 Nov 30;7:449. eCollection 2016.

10.

A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.

La Cognata V, Morello G, Gentile G, D'Agata V, Criscuolo C, Cavalcanti F, Cavallaro S.

Neurogenetics. 2016 Oct;17(4):233-244. Epub 2016 Sep 17.

11.

A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features.

Pavone P, Praticò AD, Gentile G, Falsaperla R, Iemmolo R, Guarnaccia M, Cavallaro S, Ruggieri M.

Eur J Med Genet. 2016 May;59(5):283-9. doi: 10.1016/j.ejmg.2016.03.002. Epub 2016 Mar 12.

PMID:
26979654
12.

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M.

J Genet. 2015 Dec;94(4):755-8. No abstract available.

13.

Is this the real time for genomics?

Guarnaccia M, Gentile G, Alessi E, Schneider C, Petralia S, Cavallaro S.

Genomics. 2014 Feb-Mar;103(2-3):177-82. doi: 10.1016/j.ygeno.2014.02.003. Epub 2014 Feb 19. Review.

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