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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Among authors: tadini g. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Wright JT, et al. Among authors: tadini g. Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31. Am J Med Genet A. 2019. PMID: 30703280 Free PMC article. Review.
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N. Dahlqvist J, et al. Among authors: tadini g. Am J Hum Genet. 2010 Apr 9;86(4):596-603. doi: 10.1016/j.ajhg.2010.02.018. Epub 2010 Mar 11. Am J Hum Genet. 2010. PMID: 20226437 Free PMC article.
A multidisciplinary approach in neurofibromatosis 1.
Milani D, Pezzani L, Tadini G, Menni F, Esposito S. Milani D, et al. Among authors: tadini g. Lancet Neurol. 2015 Jan;14(1):29-30. doi: 10.1016/S1474-4422(14)70255-8. Lancet Neurol. 2015. PMID: 25496892 No abstract available.
Anemic nevus in neurofibromatosis type 1.
Tadini G, Brena M, Pezzani L, Gelmetti C, Santagada F, Boldrini MP. Tadini G, et al. Dermatology. 2013;226(2):115-8. doi: 10.1159/000346643. Epub 2013 May 22. Dermatology. 2013. PMID: 23713063
Neurofibromin Deficiency and Extracellular Matrix Cooperate to Increase Transforming Potential through FAK-Dependent Signaling.
Errico A, Stocco A, Riccardi VM, Gambalunga A, Bassetto F, Grigatti M, Ferlosio A, Tadini G, Garozzo D, Ferraresi S, Trevisan A, Giustini S, Rasola A, Chiara F. Errico A, et al. Among authors: tadini g. Cancers (Basel). 2021 May 12;13(10):2329. doi: 10.3390/cancers13102329. Cancers (Basel). 2021. PMID: 34066061 Free PMC article.
146 results