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

24 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Mastromoro G, Santoro C, Motta M, Sorrentino U, Daniele P, Peduto C, Petrizzelli F, Tripodi M, Pinna V, Zanobio M, Rotundo G, Bellacchio E, Lepri F, Farina A, D'Asdia MC, Piceci-Sparascio F, Biagini T, Petracca A, Castori M, Melis D, Accadia M, Traficante G, Tarani L, Fontana P, Sirchia F, Paparella R, Currò A, Benedicenti F, Scala I, Dentici ML, Leoni C, Trevisan V, Cecconi A, Giustini S, Pizzuti A, Salviati L, Novelli A, Zampino G, Zenker M, Genuardi M, Digilio MC, Papi L, Perrotta S, Nigro V, Castellanos E, Mazza T, Trevisson E, Tartaglia M, Piluso G, De Luca A. Mastromoro G, et al. Among authors: zanobio m. Genet Med. 2024 Aug 10:101241. doi: 10.1016/j.gim.2024.101241. Online ahead of print. Genet Med. 2024. PMID: 39140257
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
Pasquali D, Torella A, Grandone A, Luongo C, Morleo M, Peduto C, di Fraia R, Selvaggio LD, Allosso F, Accardo G, Zanobio MT, Maitz S, Mariani M, Selicorni A, Banfi S, Nigro V; TUDP Study Group. Pasquali D, et al. Among authors: zanobio mt. Am J Med Genet A. 2023 Mar;191(3):823-830. doi: 10.1002/ajmg.a.63061. Epub 2022 Nov 24. Am J Med Genet A. 2023. PMID: 36420948
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Peduto C, Cappuccio G, Zeuli R, Zanobio M, Torella A, Alkuraya FS, Joss S, Daolio C, Spinelli AM, Zampieri S; TUDP Study Group; Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: zanobio m. Am J Med Genet A. 2024 Jun 26:e63713. doi: 10.1002/ajmg.a.63713. Online ahead of print. Am J Med Genet A. 2024. PMID: 38924631
Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Santoro C, Mirone G, Zanobio M, Ranucci G, D'Amico A, Cicala D, Iascone M, Bernardo P, Piccolo V, Ronchi A, Limongelli G, Carotenuto M, Nigro V, Cinalli G, Piluso G. Santoro C, et al. Among authors: zanobio m. Int J Mol Sci. 2022 Aug 11;23(16):8952. doi: 10.3390/ijms23168952. Int J Mol Sci. 2022. PMID: 36012218 Free PMC article. Review.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: zanobio m. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
24 results