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

278 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: anselmi m. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Mutations in ZBTB20 cause Primrose syndrome.
Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC. Cordeddu V, et al. Among authors: anselmi m. Nat Genet. 2014 Aug;46(8):815-7. doi: 10.1038/ng.3035. Epub 2014 Jul 13. Nat Genet. 2014. PMID: 25017102
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Pannone L, Bocchinfuso G, Flex E, Rossi C, Baldassarre G, Lissewski C, Pantaleoni F, Consoli F, Lepri F, Magliozzi M, Anselmi M, Delle Vigne S, Sorge G, Karaer K, Cuturilo G, Sartorio A, Tinschert S, Accadia M, Digilio MC, Zampino G, De Luca A, Cavé H, Zenker M, Gelb BD, Dallapiccola B, Stella L, Ferrero GB, Martinelli S, Tartaglia M. Pannone L, et al. Among authors: anselmi m. Hum Mutat. 2017 Apr;38(4):451-459. doi: 10.1002/humu.23175. Epub 2017 Feb 7. Hum Mutat. 2017. PMID: 28074573
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M. Martinelli S, et al. Among authors: anselmi m. Hum Mutat. 2020 Jun;41(6):1171-1182. doi: 10.1002/humu.24007. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32112654
Probing the Role of Murine Neuroglobin CDloop-D-Helix Unit in CO Ligand Binding and Structural Dynamics.
Exertier C, Sebastiani F, Freda I, Gugole E, Cerutti G, Parisi G, Montemiglio LC, Becucci M, Viappiani C, Bruno S, Savino C, Zamparelli C, Anselmi M, Abbruzzetti S, Smulevich G, Vallone B. Exertier C, et al. Among authors: anselmi m. ACS Chem Biol. 2022 Aug 19;17(8):2099-2108. doi: 10.1021/acschembio.2c00172. Epub 2022 Jul 7. ACS Chem Biol. 2022. PMID: 35797699 Free PMC article.
278 results