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

11 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date 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: d asdia mc. Genet Med. 2024 Nov;26(11):101241. doi: 10.1016/j.gim.2024.101241. Epub 2024 Aug 10. Genet Med. 2024. PMID: 39140257
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M. Fusco C, et al. Among authors: d asdia mc. Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046. Hum Mol Genet. 2019. PMID: 30806661
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Among authors: d asdia mc. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: d asdia mc. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
A novel ANO3 variant in two siblings with different phenotypes.
Esposito M, Trinchillo A, Piceci-Sparascio F, D'Asdia MC, Consoli F, De Luca A. Esposito M, et al. Among authors: d asdia mc. Parkinsonism Relat Disord. 2023 Jun;111:105413. doi: 10.1016/j.parkreldis.2023.105413. Epub 2023 Apr 24. Parkinsonism Relat Disord. 2023. PMID: 37116293
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Among authors: d asdia mc. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
11 results