De Laurentiis A - Search Results

1

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: de laurentiis a. Eur J Hum Genet. 2025 Jan;33(1):72-79. doi: 10.1038/s41431-024-01703-x. Epub 2024 Oct 11. Eur J Hum Genet. 2025. PMID: 39394465 Free PMC article.

2

Periventricular heterotopia in a male child with USP9X missense variant.

De Laurentiis A, Ciaccio C, Erbetta A, Pinelli M, Nigro V, Pantaleoni C, D'Arrigo S. De Laurentiis A, et al. Am J Med Genet A. 2023 May;191(5):1350-1354. doi: 10.1002/ajmg.a.63123. Epub 2023 Jan 21. Am J Med Genet A. 2023. PMID: 36680497

3

Pediatric Slow-Progressive, but Not Non-Progressive Cerebellar Ataxia Delays Intra-Limb Anticipatory Postural Adjustments in the Upper Arm.

Marchese SM, Esposti R, Farinelli V, Ciaccio C, De Laurentiis A, D'Arrigo S, Cavallari P. Marchese SM, et al. Among authors: de laurentiis a. Brain Sci. 2023 Apr 5;13(4):620. doi: 10.3390/brainsci13040620. Brain Sci. 2023. PMID: 37190585 Free PMC article.

4

Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder.

De Laurentiis A, Pastori C, Pinto C, D'Arrigo S, Estienne M, Bulgheroni S, Battaglia G, Gemma M. De Laurentiis A, et al. Front Psychiatry. 2024 Oct 10;15:1462526. doi: 10.3389/fpsyt.2024.1462526. eCollection 2024. Front Psychiatry. 2024. PMID: 39450307 Free PMC article.

5

Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.

Meossi C, Carrer A, Ciaccio C, Pezzoli L, Pezzani L, Silipigni RM, Sciacca FL, Tenconi R, Esposito S, De Laurentiis A, Pantaleoni C, Marchisio P, Natacci F, D'Arrigo S, Iascone M, Milani D. Meossi C, et al. Among authors: de laurentiis a. Genes (Basel). 2024 Nov 7;15(11):1441. doi: 10.3390/genes15111441. Genes (Basel). 2024. PMID: 39596641 Free PMC article.

6

Oxytocin alleviates periodontitis in adult rats.

Dmytrenko G, Fernández-Solari J, Correa F, De Laurentiis A. Dmytrenko G, et al. Among authors: de laurentiis a. J Periodontal Res. 2024 Apr;59(2):280-288. doi: 10.1111/jre.13212. Epub 2024 Jan 16. J Periodontal Res. 2024. PMID: 38226427

7

An mTOR feedback loop mediates the 'flare' ('rebound') response to MET tyrosine kinase inhibition.

Altintas DM, Cerqua M, De Laurentiis A, Trusolino L, Boccaccio C, Comoglio PM. Altintas DM, et al. Among authors: de laurentiis a. Sci Rep. 2023 Jan 25;13(1):1378. doi: 10.1038/s41598-023-28648-3. Sci Rep. 2023. PMID: 36697438 Free PMC article.

8

Endocannabinoid System in the Neuroendocrine Response to Lipopolysaccharide-induced Immune Challenge.

De Laurentiis A, Correa F, Fernandez Solari J. De Laurentiis A, et al. J Endocr Soc. 2022 Aug 11;6(10):bvac120. doi: 10.1210/jendso/bvac120. eCollection 2022 Oct 1. J Endocr Soc. 2022. PMID: 36042978 Free PMC article. Review.

9

Presence of Trichomonas spp. in oral ulcerations of a patient with kidney transplant. A case report.

Dmytrenko G, Tana L, Cachau MV, Bravo M, Gonzalez S, Correa F, Fernandez-Solari J, De Laurentiis A. Dmytrenko G, et al. Among authors: de laurentiis a. J Clin Exp Dent. 2020 Dec 1;12(12):e1201-e1205. doi: 10.4317/jced.56922. eCollection 2020 Dec. J Clin Exp Dent. 2020. PMID: 33282143 Free PMC article.

10

Astrocytes from cortex and striatum show differential responses to mitochondrial toxin and BDNF: implications for protection of striatal neurons expressing mutant huntingtin.

Saba J, López Couselo F, Turati J, Carniglia L, Durand D, de Laurentiis A, Lasaga M, Caruso C. Saba J, et al. Among authors: de laurentiis a. J Neuroinflammation. 2020 Oct 6;17(1):290. doi: 10.1186/s12974-020-01965-4. J Neuroinflammation. 2020. PMID: 33023623 Free PMC article.

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