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The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth.

American journal of medical genetics. Part C, Seminars in medical genetics

Heyne TF, Neri G, Lin AE.
PMID: 33982378
Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):168-172. doi: 10.1002/ajmg.c.31892. Epub 2021 May 13.

We report two prints (a woodcut from the 17th century and an engraving from the 18th century) that likely show individuals with PIK3CA-Related Overgrowth Spectrum (PROS). These prints are likely the earliest known depictions of this complex condition.

Cite
Heyne TF, Neri G, Lin AE. The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth. Am J Med Genet C Semin Med Genet. 2021;187(2):168-172doi: 10.1002/ajmg.c.31892.
Heyne, T. F., Neri, G., & Lin, A. E. (2021). The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth. American journal of medical genetics. Part C, Seminars in medical genetics, 187(2), 168-172. https://doi.org/10.1002/ajmg.c.31892
Heyne, Thomas F, et al. "The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth." American journal of medical genetics. Part C, Seminars in medical genetics vol. 187,2 (2021): 168-172. doi: https://doi.org/10.1002/ajmg.c.31892
Heyne TF, Neri G, Lin AE. The earliest depictions of a PIK3CA-Related Overgrowth Spectrum disorder: 17th-18th century prints of women with severe limb overgrowth. Am J Med Genet C Semin Med Genet. 2021 Jun;187(2):168-172. doi: 10.1002/ajmg.c.31892. Epub 2021 May 13. PMID: 33982378.
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Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.

Clinical immunology (Orlando, Fla.)

Lougaris V, Baronio M, Castagna A, Tessarin G, Rossi S, Gazzurelli L, Benvenuto A, Moratto D, Chiarini M, Cattalini M, Facchetti M, Palumbo L, Giliani S, Girelli MF, Badolato R, Bondioni MP, Facchetti F, Meini A, Plebani A.
PMID: 32681977
Clin Immunol. 2020 Oct;219:108543. doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16.

This study provides evidence for the first time for APDS-1 presenting as MAS/HLH, with evident clinical implications in patient's management and prognosis.

Cite
Lougaris V, Baronio M, Castagna A, et al. Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ. Clin Immunol. 2020;219:108543doi: 10.1016/j.clim.2020.108543.
Lougaris, V., Baronio, M., Castagna, A., Tessarin, G., Rossi, S., Gazzurelli, L., Benvenuto, A., Moratto, D., Chiarini, M., Cattalini, M., Facchetti, M., Palumbo, L., Giliani, S., Girelli, M. F., Badolato, R., Bondioni, M. P., Facchetti, F., Meini, A., & Plebani, A. (2020). Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ. Clinical immunology (Orlando, Fla.), 219108543. https://doi.org/10.1016/j.clim.2020.108543
Lougaris, Vassilios, et al. "Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ." Clinical immunology (Orlando, Fla.) vol. 219 (2020): 108543. doi: https://doi.org/10.1016/j.clim.2020.108543
Lougaris V, Baronio M, Castagna A, Tessarin G, Rossi S, Gazzurelli L, Benvenuto A, Moratto D, Chiarini M, Cattalini M, Facchetti M, Palumbo L, Giliani S, Girelli MF, Badolato R, Bondioni MP, Facchetti F, Meini A, Plebani A. Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ. Clin Immunol. 2020 Oct;219:108543. doi: 10.1016/j.clim.2020.108543. Epub 2020 Jul 16. PMID: 32681977.
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Showing 1 to 2 of 2 entries