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Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium. Gibson J, et al. Among authors: izzi v. J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18. J Am Soc Nephrol. 2021. PMID: 34400539 Free PMC article.
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.
Irene Díez García-Prieto I, Lopez-Martín S, Albert J, Jiménez de la Peña M, Fernández-Mayoralas DM, Calleja-Pérez B, Gómez Fernández MT, Álvarez S, Pihlajaniemi T, Izzi V, Fernández-Jaén A. Irene Díez García-Prieto I, et al. Among authors: izzi v. Neurocase. 2022 Feb;28(1):11-18. doi: 10.1080/13554794.2021.1928228. Epub 2022 Mar 6. Neurocase. 2022. PMID: 35253627 Review.
Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.
Aikio M, Elamaa H, Vicente D, Izzi V, Kaur I, Seppinen L, Speedy HE, Kaminska D, Kuusisto S, Sormunen R, Heljasvaara R, Jones EL, Muilu M, Jauhiainen M, Pihlajamäki J, Savolainen MJ, Shoulders CC, Pihlajaniemi T. Aikio M, et al. Among authors: izzi v. Proc Natl Acad Sci U S A. 2014 Jul 29;111(30):E3043-52. doi: 10.1073/pnas.1405879111. Epub 2014 Jul 14. Proc Natl Acad Sci U S A. 2014. PMID: 25024173 Free PMC article. Clinical Trial.
62 results