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Page 1
Recurrent duplications of 17q12 associated with variable phenotypes.
Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Mitchell E, et al. Among authors: bizzarri v. Am J Med Genet A. 2015 Dec;167A(12):3038-45. doi: 10.1002/ajmg.a.37351. Epub 2015 Sep 30. Am J Med Genet A. 2015. PMID: 26420380
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: bizzarri v. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Dropped-head in recessive oculopharyngeal muscular dystrophy.
Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G. Garibaldi M, et al. Among authors: bizzarri v. Neuromuscul Disord. 2015 Nov;25(11):869-72. doi: 10.1016/j.nmd.2015.08.011. Epub 2015 Sep 7. Neuromuscul Disord. 2015. PMID: 26494409
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L. Maini I, et al. Among authors: bizzarri v. Ital J Pediatr. 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. Ital J Pediatr. 2018. PMID: 29523172 Free PMC article.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L. Maini I, et al. Among authors: bizzarri v. Neurogenetics. 2021 Mar;22(1):19-25. doi: 10.1007/s10048-020-00625-2. Epub 2020 Aug 20. Neurogenetics. 2021. PMID: 32816121
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
Bonasoni MP, Comitini G, Pati M, Bizzarri V, Barbieri V, Marinelli M, Caraffi SG, Zuntini R, Pollazzon M, Palicelli A, Garavelli L. Bonasoni MP, et al. Among authors: bizzarri v. Fetal Pediatr Pathol. 2023 Dec;42(6):979-989. doi: 10.1080/15513815.2023.2261043. Epub 2023 Nov 22. Fetal Pediatr Pathol. 2023. PMID: 37747279
[Registry of genetic and malformative diseases in the province of Macerata].
Mercuri A, Amadori O, Andreozzi A, Antonelli S, Biritognolo A, Bizzarri V, Brocani P, Cardini E, Ciucciuvè P, Corneli A, Costantini S, Di Paolo R, Dolci M, Eugeni CE, Galvagno A, Gentilucci P, Giustozzi G, Gobbi C, Gradozzi U, Grelloni M, Medorini W, Murri B, Pasquali-Coluzzi F, Riccioni R, Rossi R, Ruggeri AG, Salvucci MC, Seri A, Scuppa U, Silvestri L, Sorelli L, Toscanelli A, Venanzetti N, Perri PF, Gabrielli O. Mercuri A, et al. Among authors: bizzarri v. Acta Biomed Ateneo Parmense. 2000;71 Suppl 1:493-5. Acta Biomed Ateneo Parmense. 2000. PMID: 11424795 Italian.
[Ceftezol in anti-infection therapy in childhood].
Caramia G, Palumbo P, Rocchi AL, Bizzarri V. Caramia G, et al. Among authors: bizzarri v. G Ital Chemioter. 1985 May-Aug;32(2):333-5. G Ital Chemioter. 1985. PMID: 3833576 Italian. No abstract available.