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

8 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G, De Bernardi ML, Morlando A, Peduto C, Scala I, Pinelli M, Bellacchio E, Gallo FG, Magli A, Plaitano C, Serrano M, Pías L, Català J, Bolasell M, Torella A, Nigro V, Zanni G, Brunetti-Pierri N. Cappuccio G, et al. Among authors: de bernardi ml. Am J Med Genet A. 2022 Oct;188(10):3032-3040. doi: 10.1002/ajmg.a.62911. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35876338 Free PMC article.
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Cappuccio G, et al. Among authors: de bernardi ml. Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. Am J Med Genet C Semin Med Genet. 2022. PMID: 35488810 Free PMC article.
A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
Terracciano A, De Bernardi ML, Novizio R, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C. Terracciano A, et al. Among authors: de bernardi ml. Endocr Metab Immune Disord Drug Targets. 2023;23(9):1235-1239. doi: 10.2174/1871530323666230227142202. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 36847234 Free PMC article.
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus.
Maini I, Farnetti E, Caraffi SG, Ivanovski I, De Bernardi ML, Gelmini C, Pollazzon M, Rosato S, Laurie S, Matalonga L, Baldo C, Garavelli L. Maini I, et al. Among authors: de bernardi ml. Neuropediatrics. 2018 Jun;49(3):222-224. doi: 10.1055/s-0038-1641722. Epub 2018 Apr 11. Neuropediatrics. 2018. PMID: 29642246 No abstract available.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: de bernardi ml. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.