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Year | Number of Results |
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2021 | 3 |
2022 | 3 |
2023 | 1 |
2024 | 0 |
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Page 1
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Front Mol Neurosci. 2022 Jun 17;15:877258. doi: 10.3389/fnmol.2022.877258. eCollection 2022.
Front Mol Neurosci. 2022.
PMID: 35782384
Free PMC article.
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: resciniti s.
Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167.
Hum Mol Genet. 2022.
PMID: 35861666
Free PMC article.
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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: resciniti s.
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.
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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Valentino F, Bruno LP, Doddato G, Giliberti A, Tita R, Resciniti S, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Baldassarri M, Fabbiani A, Lamacchia V, Benetti E, Zguro K, Furini S, Renieri A, Ariani F.
Valentino F, et al. Among authors: resciniti s.
Brain Sci. 2021 Jul 16;11(7):936. doi: 10.3390/brainsci11070936.
Brain Sci. 2021.
PMID: 34356170
Free PMC article.
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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V; Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F.
Doddato G, et al. Among authors: resciniti s.
Front Oncol. 2021 May 7;11:649435. doi: 10.3389/fonc.2021.649435. eCollection 2021.
Front Oncol. 2021.
PMID: 34026625
Free PMC article.
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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Rizzo CL, Lamacchia V, Mannucci S, Pinto AM, Currò A, Mancini V; Oncologic Multidisciplinary Team; Azienda Ospedaliera Universitaria Senese; Oncologic Multidisciplinary Team; Azienda Usl Toscana Sud Est; Mari F, Renieri A, Ariani F.
Doddato G, et al. Among authors: resciniti s.
Front Oncol. 2021 Aug 17;11:740860. doi: 10.3389/fonc.2021.740860. eCollection 2021.
Front Oncol. 2021.
PMID: 34485163
Free PMC article.
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