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

52 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: privitera f. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. PMID: 39252907 Free PMC article. Preprint.
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Privitera F, Trusso MA, Valentino F, Doddato G, Fallerini C, Brunelli G, D'Aurizio R, Furini S, Goracci A, Fagiolini A, Mari F, Renieri A, Ariani F. Privitera F, et al. Braz J Psychiatry. 2023 Mar 11;45(1):11-19. doi: 10.47626/1516-4446-2022-2650. Braz J Psychiatry. 2023. PMID: 35881528 Free PMC article.
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Currò A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaert B, Mueller S, Ramelli GP, Armstrong J, Renieri A, Mari F. Lopergolo D, et al. Among authors: privitera f. Clin Genet. 2021 Mar;99(3):462-474. doi: 10.1111/cge.13908. Epub 2021 Jan 9. Clin Genet. 2021. PMID: 33368194
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Incidental Parathyroidectomy After Thyroid Surgery: A Single-Center Study.
Granata R, Zanghì A, Scribano M, Riccioli G, Privitera F, La Vignera S, Condorelli RA, Leonforte F, Mistretta A, Calogero AE, Veroux M. Granata R, et al. Among authors: privitera f. Biomedicines. 2024 Oct 17;12(10):2372. doi: 10.3390/biomedicines12102372. Biomedicines. 2024. PMID: 39457684 Free PMC article.
SCAR32: Functional characterization and expansion of the clinical-genetic spectrum.
Naef V, Lieto M, Satolli S, De Micco R, Troisi M, Pasquariello R, Doccini S, Privitera F, Filla A, Tessitore A, Santorelli FM. Naef V, et al. Among authors: privitera f. Ann Clin Transl Neurol. 2024 Jul;11(7):1879-1886. doi: 10.1002/acn3.52094. Epub 2024 Jun 5. Ann Clin Transl Neurol. 2024. PMID: 38837640 Free PMC article.
52 results