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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

129 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
Santoro M, Perna A, La Rosa P, Petrillo S, Piemonte F, Rossi S, Riso V, Nicoletti TF, Modoni A, Pomponi MG, Chiurazzi P, Silvestri G. Santoro M, et al. Among authors: chiurazzi p. Neurogenetics. 2020 Oct;21(4):279-287. doi: 10.1007/s10048-020-00620-7. Epub 2020 Jul 7. Neurogenetics. 2020. PMID: 32638185
Complications related to in vitro reproductive techniques support the implementation of natural procreative technologies.
Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D'Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Bertelli M. Kiani AK, et al. Among authors: chiurazzi p. Acta Biomed. 2020 Nov 9;91(13-S):e2020018. doi: 10.23750/abm.v91i13-S.10525. Acta Biomed. 2020. PMID: 33170179 Free PMC article. Review.
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.
Kiani AK, Paolacci S, Scanzano P, Michelini S, Capodicasa N, D'Agruma L, Notarangelo A, Tonini G, Piccinelli D, Farshid KR, Petralia P, Fulcheri E, Buffelli F, Chiurazzi P, Terranova C, Plotti F, Angioli R, Castori M, Pös O, Szemes T, Bertelli M. Kiani AK, et al. Among authors: chiurazzi p. Acta Biomed. 2020 Nov 9;91(13-S):e2020021. doi: 10.23750/abm.v91i13-S.10534. Acta Biomed. 2020. PMID: 33170180 Free PMC article.
Deep brain stimulation in Fragile X syndrome with tardive dystonia.
Bove F, Piano C, Bentivoglio AR, Chiurazzi P, Tufo T. Bove F, et al. Among authors: chiurazzi p. Neurol Sci. 2021 Jul;42(7):2987-2989. doi: 10.1007/s10072-021-05112-6. Epub 2021 Feb 12. Neurol Sci. 2021. PMID: 33576914 No abstract available.
Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting.
Cristofoli F, Sorrentino E, Guerri G, Miotto R, Romanelli R, Zulian A, Cecchin S, Paolacci S, Miertus J, Bertelli M, Maltese PE, Chiurazzi P, Stuppia L, Castori M, Marceddu G. Cristofoli F, et al. Among authors: chiurazzi p. Genes (Basel). 2021 Nov 25;12(12):1885. doi: 10.3390/genes12121885. Genes (Basel). 2021. PMID: 34946832 Free PMC article.
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B, Placidi G, De Siena E, Chiurazzi P, Minnella AM, Savastano MC, Ziccardi L, Parisi V, Iarossi G, Percio M, Piteková B, Marceddu G, Maltese PE, Bertelli M. Falsini B, et al. Among authors: chiurazzi p. Sci Rep. 2022 Mar 8;12(1):3774. doi: 10.1038/s41598-022-07618-1. Sci Rep. 2022. PMID: 35260635 Free PMC article.
129 results