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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2019 1
2020 3
2021 6
2022 5
2023 8
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Page 1
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: guadagnolo d. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
Prenatal CFAP53-related laterality defect: case report and review of the literature.
Mastromoro G, Guadagnolo D, Novelli A, Torres B, Piane M, Magliozzi M, Bernardini L, Ventriglia F, Pizzuti A, Petrucci S. Mastromoro G, et al. Among authors: guadagnolo d. J Matern Fetal Neonatal Med. 2023 Dec;36(1):2201653. doi: 10.1080/14767058.2023.2201653. J Matern Fetal Neonatal Med. 2023. PMID: 37041101 Free article. Review.
Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters.
Piano Mortari E, Pulvirenti F, Marcellini V, Terreri S, Salinas AF, Ferrari S, Di Napoli G, Guadagnolo D, Sculco E, Albano C, Guercio M, Di Cecca S, Milito C, Garzi G, Pesce AM, Bonanni L, Sinibaldi M, Bordoni V, Di Cecilia S, Accordini S, Castilletti C, Agrati C, Quintarelli C, Zaffina S, Locatelli F, Carsetti R, Quinti I. Piano Mortari E, et al. Among authors: guadagnolo d. Front Immunol. 2023 May 25;14:1194225. doi: 10.3389/fimmu.2023.1194225. eCollection 2023. Front Immunol. 2023. PMID: 37304298 Free PMC article.
Case Report: Interindividual variability and possible role of heterozygous variants in a family with deficiency of adenosine deaminase 2: are all heterozygous born equals?
Pulvirenti F, Cinicola BL, Ferrari S, Guadagnolo D, Sculco E, Capponi M, Loffredo L, Sciannamea M, Insalaco A, Quinti I, De Benedetti F, Zicari AM. Pulvirenti F, et al. Among authors: guadagnolo d. Front Immunol. 2023 May 3;14:1156689. doi: 10.3389/fimmu.2023.1156689. eCollection 2023. Front Immunol. 2023. PMID: 37207212 Free PMC article.
Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
Mastromoro G, Khaleghi Hashemian N, Guadagnolo D, Giuffrida MG, Torres B, Bernardini L, Ventriglia F, Piacentini G, Pizzuti A. Mastromoro G, et al. Among authors: guadagnolo d. Diagnostics (Basel). 2022 May 27;12(6):1328. doi: 10.3390/diagnostics12061328. Diagnostics (Basel). 2022. PMID: 35741137 Free PMC article. Review.
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series.
Mastromoro G, Guadagnolo D, Khaleghi Hashemian N, Bernardini L, Giancotti A, Piacentini G, De Luca A, Pizzuti A. Mastromoro G, et al. Among authors: guadagnolo d. Diagnostics (Basel). 2022 Dec 23;13(1):48. doi: 10.3390/diagnostics13010048. Diagnostics (Basel). 2022. PMID: 36611340 Free PMC article. Review.
21 results