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102 results

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Page 1
The ring 14 syndrome: clinical and molecular definition.
Zollino M, Seminara L, Orteschi D, Gobbi G, Giovannini S, Della Giustina E, Frattini D, Scarano A, Neri G. Zollino M, et al. Among authors: frattini d. Am J Med Genet A. 2009 Jun;149A(6):1116-24. doi: 10.1002/ajmg.a.32831. Am J Med Genet A. 2009. PMID: 19441122
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Cesaroni CA, Pollazzon M, Mancini C, Rizzi S, Cappelletti C, Pizzi S, Frattini D, Spagnoli C, Caraffi SG, Zuntini R, Trimarchi G, Niceta M, Radio FC, Tartaglia M, Garavelli L, Fusco C. Cesaroni CA, et al. Among authors: frattini d. Front Neurol. 2023 Jul 14;14:1207176. doi: 10.3389/fneur.2023.1207176. eCollection 2023. Front Neurol. 2023. PMID: 37521304 Free PMC article.
Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report.
Cesaroni CA, Frattini D, Lecis M, Bonvicini F, Bartolomeo D, Rizzi S, Spagnoli C, Napoli M, Pascarella R, De Fanti A, Fusco C. Cesaroni CA, et al. Among authors: frattini d. Neurohospitalist. 2024 Jan;14(1):64-68. doi: 10.1177/19418744231205626. Epub 2023 Oct 9. Neurohospitalist. 2024. PMID: 38235031 Free PMC article.
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B, Spagnoli C, Caraffi SG, Cavalli A, Cesaroni CA, Cutillo G, De Giorgis V, Frattini D, Marchetti GB, Masnada S, Peron A, Rizzi S, Varesio C, Spaccini L, Vignoli A, Canevini MP, Veggiotti P, Garavelli L, Fusco C. Cavirani B, et al. Among authors: frattini d. Int J Mol Sci. 2024 Jan 19;25(2):1248. doi: 10.3390/ijms25021248. Int J Mol Sci. 2024. PMID: 38279250 Free PMC article.
Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.
Cavalli A, Caraffi SG, Rizzi S, Trimarchi G, Napoli M, Frattini D, Spagnoli C, Garavelli L, Fusco C. Cavalli A, et al. Among authors: frattini d. BMC Med Genomics. 2024 Mar 5;17(1):68. doi: 10.1186/s12920-024-01840-8. BMC Med Genomics. 2024. PMID: 38443934 Free PMC article. Review.
UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.
Hamilton EMC, Bertini E, Kalaydjieva L, Morar B, Dojčáková D, Liu J, Vanderver A, Curiel J, Persoon CM, Diodato D, Pinelli L, van der Meij NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q, Abbink TEM, van der Knaap MS; Recessive H-ABC Research Group. Hamilton EMC, et al. Neurology. 2017 Oct 24;89(17):1821-1828. doi: 10.1212/WNL.0000000000004578. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931644 Free PMC article.
Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.
Rizzi S, Spagnoli C, Bellini M, Cesaroni CA, Spezia E, Bergonzini P, Caramaschi E, Soliani L, Turco EC, Piccolo B, Demuth L, Cordelli DM, Biasucci G, Frattini D, Fusco C. Rizzi S, et al. Among authors: frattini d. Genes (Basel). 2023 Sep 21;14(9):1828. doi: 10.3390/genes14091828. Genes (Basel). 2023. PMID: 37761968 Free PMC article.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Ambrosetti I, Bernardini L, Pollazzon M, Giuffrida MG, Guida V, Peluso F, Baroni MC, Polizzi V, Napoli M, Rosato S, Trimarchi G, Gelmini C, Caraffi SG, Wischmeijer A, Frattini D, Novelli A, Garavelli L. Ambrosetti I, et al. Among authors: frattini d. Genes (Basel). 2023 Jul 26;14(8):1526. doi: 10.3390/genes14081526. Genes (Basel). 2023. PMID: 37628577 Free PMC article. Review.
102 results