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Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Crippa M, Bonati MT, Calzari L, Picinelli C, Gervasini C, Sironi A, Bestetti I, Guzzetti S, Bellone S, Selicorni A, Mussa A, Riccio A, Ferrero GB, Russo S, Larizza L, Finelli P. Crippa M, et al. Among authors: sironi a. Front Genet. 2019 Oct 15;10:955. doi: 10.3389/fgene.2019.00955. eCollection 2019. Front Genet. 2019. PMID: 31749829 Free PMC article.
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function.
Bestetti I, Castronovo C, Sironi A, Caslini C, Sala C, Rossetti R, Crippa M, Ferrari I, Pistocchi A, Toniolo D, Persani L, Marozzi A, Finelli P. Bestetti I, et al. Among authors: sironi a. Hum Reprod. 2019 Mar 1;34(3):574-583. doi: 10.1093/humrep/dey389. Hum Reprod. 2019. PMID: 30689869 Free PMC article.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: sironi a. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Alari V, Russo S, Terragni B, Ajmone PF, Sironi A, Catusi I, Calzari L, Concolino D, Marotta R, Milani D, Giardino D, Mantegazza M, Gervasini C, Finelli P, Larizza L. Alari V, et al. Among authors: sironi a. Stem Cell Res. 2018 Jul;30:130-140. doi: 10.1016/j.scr.2018.05.019. Epub 2018 May 30. Stem Cell Res. 2018. PMID: 29883886 Free article.
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Bonati MT, Castronovo C, Sironi A, Zimbalatti D, Bestetti I, Crippa M, Novelli A, Loddo S, Dentici ML, Taylor J, Devillard F, Larizza L, Finelli P. Bonati MT, et al. Among authors: sironi a. Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17. Neurogenetics. 2019. PMID: 31209758 Free article.
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I, Barbieri C, Sironi A, Specchia V, Yatsenko SA, De Donno MD, Caslini C, Gentilini D, Crippa M, Larizza L, Marozzi A, Rajkovic A, Toniolo D, Bozzetti MP, Finelli P. Bestetti I, et al. Among authors: sironi a. Hum Reprod. 2021 Oct 18;36(11):2975-2991. doi: 10.1093/humrep/deab192. Hum Reprod. 2021. PMID: 34480478 Free PMC article.
Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, Esteve Martínez A, Sironi A, Fontana L, Finelli P, Gervasini C, Pecile V, Larizza L. Colombo EA, et al. Among authors: sironi a. Int J Mol Sci. 2018 Apr 6;19(4):1103. doi: 10.3390/ijms19041103. Int J Mol Sci. 2018. PMID: 29642415 Free PMC article.
190 results