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

118 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
Cogliati F, Straniero L, Rimoldi V, Masciadri M, Perego S, Rinaldi B, Milani D, Gentilini D, Larizza L, Asselta R, Russo S, Bedeschi MF. Cogliati F, et al. Among authors: gentilini d. Am J Med Genet B Neuropsychiatr Genet. 2024 Feb 22:e32976. doi: 10.1002/ajmg.b.32976. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38385826
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: gentilini d. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S. Tannorella P, et al. Among authors: gentilini d. Clin Epigenetics. 2022 Mar 22;14(1):43. doi: 10.1186/s13148-022-01262-2. Clin Epigenetics. 2022. PMID: 35317853 Free PMC article.
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I, Barbieri C, Sironi A, Specchia V, Yatsenko SA, De Donno MD, Caslini C, Gentilini D, Crippa M, Larizza L, Marozzi A, Rajkovic A, Toniolo D, Bozzetti MP, Finelli P. Bestetti I, et al. Among authors: gentilini d. Hum Reprod. 2021 Oct 18;36(11):2975-2991. doi: 10.1093/humrep/deab192. Hum Reprod. 2021. PMID: 34480478 Free PMC article.
Analysis of miRNA rare variants in amyotrophic lateral sclerosis and in silico prediction of their biological effects.
Brusati A, Ratti A, Pensato V, Peverelli S, Gentilini D, Dalla Bella E, Sorce MN, Meneri M, Gagliardi D, Corti S, Gellera C, Lauria Pinter G, Ticozzi N, Silani V. Brusati A, et al. Among authors: gentilini d. Front Genet. 2022 Dec 7;13:1055313. doi: 10.3389/fgene.2022.1055313. eCollection 2022. Front Genet. 2022. PMID: 36568378 Free PMC article.
A frequent oligogenic involvement in congenital hypothyroidism.
de Filippis T, Gelmini G, Paraboschi E, Vigone MC, Di Frenna M, Marelli F, Bonomi M, Cassio A, Larizza D, Moro M, Radetti G, Salerno M, Ardissino D, Weber G, Gentilini D, Guizzardi F, Duga S, Persani L. de Filippis T, et al. Among authors: gentilini d. Hum Mol Genet. 2017 Jul 1;26(13):2507-2514. doi: 10.1093/hmg/ddx145. Hum Mol Genet. 2017. PMID: 28444304 Free article.
118 results