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

297 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R. Ravegnini G, et al. Among authors: genuardi m. Virchows Arch. 2019 Feb;474(2):259-264. doi: 10.1007/s00428-018-2462-6. Epub 2018 Oct 1. Virchows Arch. 2019. PMID: 30276464
Correction to: Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
Ravegnini G, Quero G, Sammarini G, Giustiniani MC, Castri F, Pomponi MG, Angelini S, Alfieri S, Genuardi M, Zamboni G, Ricci R. Ravegnini G, et al. Among authors: genuardi m. Virchows Arch. 2019 Feb;474(2):265. doi: 10.1007/s00428-018-2472-4. Virchows Arch. 2019. PMID: 30306267
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Among authors: genuardi m. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: genuardi m. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.
Lo Vecchio F, Tabolacci E, Nobile V, Pomponi MG, Pietrobono R, Neri G, Amenta S, Candida E, Grippaudo C, Lo Cascio E, Vita A, Tiberio F, Arcovito A, Lattanzi W, Genuardi M, Chiurazzi P. Lo Vecchio F, et al. Among authors: genuardi m. Genes (Basel). 2022 Jun 27;13(7):1161. doi: 10.3390/genes13071161. Genes (Basel). 2022. PMID: 35885943 Free PMC article.
297 results