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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.
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.
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.
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.
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