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Page 1
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.
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 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.