Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

19 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2.
De Mori R, Severino M, Mancardi MM, Anello D, Tardivo S, Biagini T, Capra V, Casella A, Cereda C, Copeland BR, Gagliardi S, Gamucci A, Ginevrino M, Illi B, Lorefice E, Musaev D, Stanley V, Micalizzi A, Gleeson JG, Mazza T, Rossi A, Valente EM. De Mori R, et al. Among authors: lorefice e. Brain. 2019 Oct 1;142(10):2965-2978. doi: 10.1093/brain/awz247. Brain. 2019. PMID: 31412107 Free PMC article.
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM. De Mori R, et al. Among authors: lorefice e. Am J Hum Genet. 2017 Oct 5;101(4):552-563. doi: 10.1016/j.ajhg.2017.08.017. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965847 Free PMC article.
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
Nuovo S, Baglioni V, De Mori R, Tardivo S, Caputi C, Ginevrino M, Micalizzi A, Masuelli L, Federici G, Casella A, Lorefice E, Anello D, Tolve M, Farini D, Bertini E, Zanni G, Travaglini L, Vasco G, Sette C, Carducci C, Valente EM, Leuzzi V. Nuovo S, et al. Among authors: lorefice e. Hum Mutat. 2022 Jan;43(1):67-73. doi: 10.1002/humu.24293. Epub 2021 Nov 15. Hum Mutat. 2022. PMID: 34747546
ZNF281 Promotes Colon Fibroblast Activation in TGFβ1-Induced Gut Fibrosis.
Laudadio I, Bastianelli A, Fulci V, Carissimi C, Colantoni E, Palone F, Vitali R, Lorefice E, Cucchiara S, Negroni A, Stronati L. Laudadio I, et al. Among authors: lorefice e. Int J Mol Sci. 2022 Sep 6;23(18):10261. doi: 10.3390/ijms231810261. Int J Mol Sci. 2022. PMID: 36142169 Free PMC article.
Epitranscriptomics: A New Layer of microRNA Regulation in Cancer.
De Paolis V, Lorefice E, Orecchini E, Carissimi C, Laudadio I, Fulci V. De Paolis V, et al. Among authors: lorefice e. Cancers (Basel). 2021 Jul 5;13(13):3372. doi: 10.3390/cancers13133372. Cancers (Basel). 2021. PMID: 34282776 Free PMC article. Review.
19 results