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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Pignata L, Cecere F, Acquaviva F, D'Angelo E, Cioffi D, Pellino V, Palumbo O, Palumbo P, Carella M, Sparago A, De Brasi D, Cerrato F, Riccio A. Pignata L, et al. Among authors: acquaviva f. Front Cell Dev Biol. 2023 Aug 10;11:1237629. doi: 10.3389/fcell.2023.1237629. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37635873 Free PMC article.
Integrated exome and transcriptome analysis prioritizes MAP4K4 de novo frameshift variants in autism spectrum disorder as a novel disease-gene association.
Cesana M, Vaccaro L, Larsen MJ, Kibæk M, Micale L, Riccardo S, Annunziata P, Colantuono C, Di Filippo L, De Brasi D, Castori M, Fagerberg C, Acquaviva F, Cacchiarelli D. Cesana M, et al. Among authors: acquaviva f. Hum Genet. 2023 Mar;142(3):343-350. doi: 10.1007/s00439-022-02497-y. Epub 2022 Dec 5. Hum Genet. 2023. PMID: 36469137 Free PMC article.
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.
Passaretti F, Pignata L, Vitiello G, Alesi V, D'Elia G, Cecere F, Acquaviva F, De Brasi D, Novelli A, Riccio A, Iolascon A, Cerrato F. Passaretti F, et al. Among authors: acquaviva f. Genes (Basel). 2022 Oct 16;13(10):1875. doi: 10.3390/genes13101875. Genes (Basel). 2022. PMID: 36292759 Free PMC article.
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
De Brasi D, Orlando F, Gaeta V, De Liso M, Acquaviva F, Martemucci L, Mastrominico A, Di Rocco M. De Brasi D, et al. Among authors: acquaviva f. Genes (Basel). 2021 Jul 30;12(8):1187. doi: 10.3390/genes12081187. Genes (Basel). 2021. PMID: 34440363 Free PMC article.
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses.
Paolacci S, Precone V, Acquaviva F, Chiurazzi P, Fulcheri E, Pinelli M, Buffelli F, Michelini S, Herbst KL, Unfer V, Bertelli M; GeneOb Project. Paolacci S, et al. Among authors: acquaviva f. Eur Rev Med Pharmacol Sci. 2019 Jul;23(13):5581-5594. doi: 10.26355/eurrev_201907_18292. Eur Rev Med Pharmacol Sci. 2019. PMID: 31298310 Free article. Review.
Feasibility, Tolerability and Efficacy of Carfilzomib in Combination with Lenalidomide and Dexamethasone in Relapsed Refractory Myeloma Patients: A Retrospective Real-Life Survey of the Sicilian Myeloma Network.
Conticello C, Romano A, Del Fabro V, Martino EA, Calafiore V, Sapienza G, Leotta V, Parisi MS, Markovic U, Garibaldi B, Leotta S, Cotzia E, Innao V, Mannina D, Neri S, Musso M, Scalone R, Cangialosi C, Acquaviva F, Cardinale G, Merenda A, Maugeri C, Uccello G, Poidomani M, Longo G, Carlisi M, Tibullo D, Di Raimondo F. Conticello C, et al. Among authors: acquaviva f. J Clin Med. 2019 Jun 19;8(6):877. doi: 10.3390/jcm8060877. J Clin Med. 2019. PMID: 31248142 Free PMC article.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: acquaviva f. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M, Amabile S, Acquaviva F. Falco M, et al. Among authors: acquaviva f. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Appl Clin Genet. 2017. PMID: 29138588 Free PMC article. Review.
45 results