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

67 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Cappuccio G, Bernardo P, Raiano E, Pinelli M, Alagia M, Esposito M, Della Casa R, Strisciuglio P, Brunetti-Pierri N, Bravaccio C. Cappuccio G, et al. Among authors: alagia m. Acta Paediatr. 2019 Jan;108(1):171-172. doi: 10.1111/apa.14576. Epub 2018 Oct 17. Acta Paediatr. 2019. PMID: 30216533 No abstract available.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Cappuccio G, Alagia M, D'Anna M, Ranieri C, Di Tommaso S, Bruno C, Fiorillo C, Pedemonte M, Loconte D, Della Casa R, Strisciuglio P, Ginocchio MI, Pinelli M, Resta N, Brunetti-Pierri N. Cappuccio G, et al. Among authors: alagia m. Eur J Med Genet. 2017 Dec;60(12):655-657. doi: 10.1016/j.ejmg.2017.08.018. Epub 2017 Sep 1. Eur J Med Genet. 2017. PMID: 28867506
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Cappuccio G, et al. Among authors: alagia m. PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017. PLoS One. 2017. PMID: 28961260 Free PMC article.
An extremely severe phenotype attributed to WDR81 nonsense mutations.
Cappuccio G, Pinelli M, Torella A, Vitiello G, D'Amico A, Alagia M, Del Giudice E, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: alagia m. Ann Neurol. 2017 Oct;82(4):650-651. doi: 10.1002/ana.25058. Ann Neurol. 2017. PMID: 28972664 No abstract available.
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder.
Cappuccio G, Attanasio S, Alagia M, Mutarelli M, Borzone R, Karali M, Genesio R, Mormile A, Nitsch L, Imperati F, Esposito A, Banfi S, Del Giudice E, Brunetti-Pierri N. Cappuccio G, et al. Among authors: alagia m. Eur J Hum Genet. 2019 Sep;27(9):1475-1480. doi: 10.1038/s41431-019-0430-5. Epub 2019 May 31. Eur J Hum Genet. 2019. PMID: 31152157 Free PMC article.
Two cases of 16q12.1q21 deletions and refinement of the critical region.
Apuzzo D, Cappuccio G, Vaisanen T, Alagia M, Pignataro P, Genesio R, Brunetti-Pierri N. Apuzzo D, et al. Among authors: alagia m. Eur J Med Genet. 2020 Jun;63(6):103878. doi: 10.1016/j.ejmg.2020.103878. Epub 2020 Feb 8. Eur J Med Genet. 2020. PMID: 32045705
Expansion of the phenotype of lateral meningocele syndrome.
Cappuccio G, Apuzzo D, Alagia M, Torella A, Pinelli M, Franco B, Corrado B, Del Giudice E, D'Amico A, Nigro V; TUDP; Brunetti-Pierri N. Cappuccio G, et al. Among authors: alagia m. Am J Med Genet A. 2020 May;182(5):1259-1262. doi: 10.1002/ajmg.a.61536. Epub 2020 Mar 6. Am J Med Genet A. 2020. PMID: 32141180 Free PMC article.
67 results