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2020 5
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2023 3
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21 results

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Page 1
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: doddato g. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Currò A, Doddato G, Bruttini M, Zollino M, Marangi G, Zappella M, Renieri A, Pinto AM. Currò A, et al. Among authors: doddato g. Eur J Med Genet. 2021 Jan;64(1):104102. doi: 10.1016/j.ejmg.2020.104102. Epub 2020 Nov 18. Eur J Med Genet. 2021. PMID: 33220470
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: doddato g. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Privitera F, Trusso MA, Valentino F, Doddato G, Fallerini C, Brunelli G, D'Aurizio R, Furini S, Goracci A, Fagiolini A, Mari F, Renieri A, Ariani F. Privitera F, et al. Among authors: doddato g. Braz J Psychiatry. 2023 Mar 11;45(1):11-19. doi: 10.47626/1516-4446-2022-2650. Braz J Psychiatry. 2023. PMID: 35881528 Free PMC article.
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Bruno LP, Doddato G, Baldassarri M, Rizzo CL, Resciniti S, Bruttini M, Mirjam L, Zguro K, Furini S, Mencarelli MA, Renieri A, Ariani F. Bruno LP, et al. Among authors: doddato g. Am J Med Genet A. 2023 Jan;191(1):284-288. doi: 10.1002/ajmg.a.62984. Epub 2022 Oct 9. Am J Med Genet A. 2023. PMID: 36210549 Free PMC article. No abstract available.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Baldassarri M, Fava F, Fallerini C, Daga S, Benetti E, Zguro K, Amitrano S, Valentino F, Doddato G, Giliberti A, Di Sarno L, Palmieri M, Carriero ML, Alaverdian D, Beligni G, Iuso N, Castelli F, Quiros-Roldan E, Mondelli MU, Miceli R, Frullanti E, Furini S, Mari F, Renieri A, Gabbi C, On Behalf Of The Gen-Covid Multicenter Study. Baldassarri M, et al. Among authors: doddato g. J Pers Med. 2021 Jun 15;11(6):558. doi: 10.3390/jpm11060558. J Pers Med. 2021. PMID: 34203982 Free PMC article.
A new mutation in DNM2 gene in a large Italian family.
Lopergolo D, Bocci S, Pinto AM, Valentino F, Doddato G, Ginanneschi F, Volpi N, Renieri A, Giannini F. Lopergolo D, et al. Among authors: doddato g. Neurol Sci. 2021 Jun;42(6):2509-2513. doi: 10.1007/s10072-020-04972-8. Epub 2021 Jan 18. Neurol Sci. 2021. PMID: 33459893
21 results