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NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.
Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. Carli D, et al. Among authors: barresi s. Hum Mutat. 2019 Jun;40(6):721-728. doi: 10.1002/humu.23734. Epub 2019 Mar 18. Hum Mutat. 2019. PMID: 30825388 Free article.
Spindle Cell Lesions with Oncogenic EGFR Kinase Domain Aberrations: Expanding the Spectrum of Protein Kinase-Related Mesenchymal Tumors.
Vallese S, Barresi S, Hiemcke-Jiwa L, Patrizi S, Kester L, Giovannoni I, Cardoni A, Pedace L, Nardini C, Tancredi C, Desideri M, von Deimling A, Mura RM, Piga M, Errico ME, Stracuzzi A, Alaggio R, Miele E, Flucke U. Vallese S, et al. Among authors: barresi s. Mod Pathol. 2024 Sep;37(9):100539. doi: 10.1016/j.modpat.2024.100539. Epub 2024 Jun 14. Mod Pathol. 2024. PMID: 38880352
A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma.
De Leonardis F, Greco Miani V, Vallese S, Barresi S, Marulli G, Novielli C, Dall'Igna P, Maruccia M, Santoro N. De Leonardis F, et al. Among authors: barresi s. J Pediatr Hematol Oncol. 2024 Jul 1;46(5):e322-e326. doi: 10.1097/MPH.0000000000002884. Epub 2024 May 21. J Pediatr Hematol Oncol. 2024. PMID: 38775398
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: barresi s. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
Sferra A, Baillat G, Rizza T, Barresi S, Flex E, Tasca G, D'Amico A, Bellacchio E, Ciolfi A, Caputo V, Cecchetti S, Torella A, Zanni G, Diodato D, Piermarini E, Niceta M, Coppola A, Tedeschi E, Martinelli D, Dionisi-Vici C, Nigro V, Dallapiccola B, Compagnucci C, Tartaglia M, Haase G, Bertini E. Sferra A, et al. Among authors: barresi s. Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666369 Free PMC article.
96 results