Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38528056
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.
Priolo M, Zara E, Radio FC, Ciolfi A, Spadaro F, Bellacchio E, Mancini C, Pantaleoni F, Cordeddu V, Chiriatti L, Niceta M, Africa E, Mammì C, Melis D, Coppola S, Tartaglia M.
Priolo M, et al. Among authors: chiriatti l.
Eur J Hum Genet. 2023 Jul;31(7):805-814. doi: 10.1038/s41431-023-01351-7. Epub 2023 Apr 14.
Eur J Hum Genet. 2023.
PMID: 37059841
Review.
Item in Clipboard
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.
Priolo M, Mancini C, Radio FC, Chiriatti L, Ciolfi A, Cappelletti C, Cordeddu V, Pintomalli L, Brusco A, Mammi C, Tartaglia M.
Priolo M, et al. Among authors: chiriatti l.
Am J Med Genet C Semin Med Genet. 2023 Jun;193(2):160-166. doi: 10.1002/ajmg.c.32034. Epub 2023 Feb 3.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 36734411
Free article.
Item in Clipboard
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M.
Ferilli M, et al. Among authors: chiriatti l.
Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163.
Genes (Basel). 2022.
PMID: 36421837
Free PMC article.
Item in Clipboard
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
Priolo M, Mancini C, Pizzi S, Chiriatti L, Radio FC, Cordeddu V, Pintomalli L, Mammì C, Dallapiccola B, Tartaglia M.
Priolo M, et al. Among authors: chiriatti l.
Genes (Basel). 2022 May 16;13(5):889. doi: 10.3390/genes13050889.
Genes (Basel). 2022.
PMID: 35627274
Free PMC article.
Item in Clipboard
Retinal and Brain Organoids: Bridging the Gap Between in vivo Physiology and in vitro Micro-Physiology for the Study of Alzheimer's Diseases.
Brighi C, Cordella F, Chiriatti L, Soloperto A, Di Angelantonio S.
Brighi C, et al. Among authors: chiriatti l.
Front Neurosci. 2020 Jun 17;14:655. doi: 10.3389/fnins.2020.00655. eCollection 2020.
Front Neurosci. 2020.
PMID: 32625060
Free PMC article.
Review.
Item in Clipboard
Cite
Cite