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Genetics and genomic medicine in Argentina.
Vishnopolska SA, Turjanski AG, Herrera Piñero M, Groisman B, Liascovich R, Chiesa A, Marti MA. Vishnopolska SA, et al. Mol Genet Genomic Med. 2018 Jul 26;6(4):481-91. doi: 10.1002/mgg3.455. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 30051615 Free PMC article.
Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Pérez Millán MI, Vishnopolska SA, Daly AZ, Bustamante JP, Seilicovich A, Bergadá I, Braslavsky D, Keselman AC, Lemons RM, Mortensen AH, Marti MA, Camper SA, Kitzman JO. Pérez Millán MI, et al. Among authors: vishnopolska sa. Mol Genet Genomic Med. 2018 May 8;6(4):514-25. doi: 10.1002/mgg3.395. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29739035 Free PMC article.
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA, Mercogliano MF, Camilletti MA, Mortensen AH, Braslavsky D, Keselman A, Bergadá I, Olivieri F, Miranda L, Marino R, Ramírez P, Pérez Garrido N, Patiño Mejia H, Ciaccio M, Di Palma MI, Belgorosky A, Martí MA, Kitzman JO, Camper SA, Pérez-Millán MI. Vishnopolska SA, et al. J Clin Endocrinol Metab. 2021 Jun 16;106(7):1956-1976. doi: 10.1210/clinem/dgab177. J Clin Endocrinol Metab. 2021. PMID: 33729509 Free PMC article.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: vishnopolska sa. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders.
González-Morón D, Vishnopolska S, Consalvo D, Medina N, Marti M, Córdoba M, Vazquez-Dusefante C, Claverie S, Rodríguez-Quiroga SA, Vega P, Silva W, Kochen S, Kauffman MA. González-Morón D, et al. Among authors: vishnopolska s. PLoS One. 2017 Sep 27;12(9):e0185103. doi: 10.1371/journal.pone.0185103. eCollection 2017. PLoS One. 2017. PMID: 28953922 Free PMC article.
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
Calandra CR, Buda G, Vishnopolska SA, Oliveri J, Olivieri FA, Pérez Millán MI, Biagioli G, Miquelini LA, Pellene AL, Marti MA. Calandra CR, et al. Among authors: vishnopolska sa. Parkinsonism Relat Disord. 2020 Apr;73:52-54. doi: 10.1016/j.parkreldis.2020.03.020. Epub 2020 Mar 24. Parkinsonism Relat Disord. 2020. PMID: 32248051 No abstract available.
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings.
Calandra CR, Mocarbel Y, Vishnopolska SA, Toneguzzo V, Oliveri J, Cazado EC, Biagioli G, Turjanksi AG, Marti M. Calandra CR, et al. Among authors: vishnopolska sa. Mov Disord Clin Pract. 2019 Jan 16;6(3):259-262. doi: 10.1002/mdc3.12721. eCollection 2019 Mar. Mov Disord Clin Pract. 2019. PMID: 30949559 Free PMC article. No abstract available.
From Pituitary Stem Cell Differentiation to Regenerative Medicine.
Camilletti MA, Martinez Mayer J, Vishnopolska SA, Perez-Millan MI. Camilletti MA, et al. Among authors: vishnopolska sa. Front Endocrinol (Lausanne). 2021 Jan 19;11:614999. doi: 10.3389/fendo.2020.614999. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33542708 Free PMC article. Review.
12 results