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Page 1
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Bukvic N, De Rinaldis M, Chetta M, Trabacca A, Bassi MT, Marsano RM, Holoubkova L, Rivieccio M, Oro M, Resta N, Kerkhof J, Sadikovic B, Viggiano L. Bukvic N, et al. Genes (Basel). 2024 Jun 22;15(7):826. doi: 10.3390/genes15070826. Genes (Basel). 2024. PMID: 39062605 Free PMC article. Review.
What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis.
Bukvic N, Chetta M, Bagnulo R, Leotta V, Pantaleo A, Palumbo O, Palumbo P, Oro M, Rivieccio M, Laforgia N, De Rinaldis M, Rosati A, Kerkhof J, Sadikovic B, Resta N. Bukvic N, et al. Genes (Basel). 2023 Jan 7;14(1):165. doi: 10.3390/genes14010165. Genes (Basel). 2023. PMID: 36672906 Free PMC article.
The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.
Laforgia N, De Cosmo L, Palumbo O, Ranieri C, Sesta M, Capodiferro D, Pantaleo A, Iapicca P, Lastella P, Capozza M, Schettini F, Bukvic N, Bagnulo R, Resta N. Laforgia N, et al. Among authors: bukvic n. Genes (Basel). 2020 Dec 18;11(12):1519. doi: 10.3390/genes11121519. Genes (Basel). 2020. PMID: 33353066 Free PMC article.
Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C).
Piccoli C, Scrima R, D'Aprile A, Chetta M, Cela O, Pacelli C, Ripoli M, D'Andrea G, Margaglione M, Bukvic N, Capitanio N. Piccoli C, et al. Among authors: bukvic n. Genes (Basel). 2021 Aug 24;12(9):1295. doi: 10.3390/genes12091295. Genes (Basel). 2021. PMID: 34573276 Free PMC article.
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
Turchiano A, Piglionica M, Martino S, Bagnulo R, Garganese A, De Luisi A, Chirulli S, Iacoviello M, Stasi M, Tabaku O, Meneleo E, Capurso M, Crocetta S, Lattarulo S, Krylovska Y, Lastella P, Forleo C, Stella A, Bukvic N, Simone C, Resta N. Turchiano A, et al. Among authors: bukvic n. Genes (Basel). 2023 Jul 26;14(8):1530. doi: 10.3390/genes14081530. Genes (Basel). 2023. PMID: 37628581 Free PMC article.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Leone MP, Palumbo P, Palumbo O, Di Muro E, Chetta M, Laforgia N, Resta N, Stella A, Castellana S, Mazza T, Castori M, Carella M, Bukvic N. Leone MP, et al. Among authors: bukvic n. Ital J Pediatr. 2020 May 27;46(1):74. doi: 10.1186/s13052-020-00839-y. Ital J Pediatr. 2020. PMID: 32460883 Free PMC article.
62 results