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Page 1
Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.
Tamburrino F, Mazzanti L, Scarano E, Gibertoni D, Sirolli M, Zioutas M, Schiavariello C, Perri A, Mantovani A, Rossi C, Tartaglia M, Pession A. Tamburrino F, et al. Front Endocrinol (Lausanne). 2023 Jul 31;14:1209339. doi: 10.3389/fendo.2023.1209339. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37588986 Free PMC article.
Endocrinological manifestations in RASopathies.
Tamburrino F, Scarano E, Schiavariello C, Perri A, Pession A, Mazzanti L. Tamburrino F, et al. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):471-477. doi: 10.1002/ajmg.c.32013. Epub 2022 Nov 19. Am J Med Genet C Semin Med Genet. 2022. PMID: 36401574 Review.
New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study.
Gambineri A, Scarano E, Rucci P, Perri A, Tamburrino F, Altieri P, Corzani F, Cecchetti C, Dionese P, Belardinelli E, Ibarra-Gasparini D, Menabò S, Vicennati V, Repaci A, di Dalmazi G, Pelusi C, Zavatta G, Virdi A, Neri I, Fanelli F, Mazzanti L, Pagotto U. Gambineri A, et al. Among authors: tamburrino f. J Endocrinol Invest. 2022 Dec;45(12):2247-2256. doi: 10.1007/s40618-022-01853-z. Epub 2022 Jul 30. J Endocrinol Invest. 2022. PMID: 35907176 Free PMC article.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Motta M, Pannone L, Pantaleoni F, Bocchinfuso G, Radio FC, Cecchetti S, Ciolfi A, Di Rocco M, Elting MW, Brilstra EH, Boni S, Mazzanti L, Tamburrino F, Walsh L, Payne K, Fernández-Jaén A, Ganapathi M, Chung WK, Grange DK, Dave-Wala A, Reshmi SC, Bartholomew DW, Mouhlas D, Carpentieri G, Bruselles A, Pizzi S, Bellacchio E, Piceci-Sparascio F, Lißewski C, Brinkmann J, Waclaw RR, Waisfisz Q, van Gassen K, Wentzensen IM, Morrow MM, Álvarez S, Martínez-García M, De Luca A, Memo L, Zampino G, Rossi C, Seri M, Gelb BD, Zenker M, Dallapiccola B, Stella L, Prada CE, Martinelli S, Flex E, Tartaglia M. Motta M, et al. Among authors: tamburrino f. Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27. Am J Hum Genet. 2020. PMID: 32721402 Free PMC article.
Corrigendum to "Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders" [Gene 706 (2019) 162-171].
Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, Tamburrino F, Mongelli P, Percesepe A, Visconti P, Parmeggiani A, Seri M, Graziano C. Magini P, et al. Among authors: tamburrino f. Gene. 2020 Apr 20;735:144393. doi: 10.1016/j.gene.2020.144393. Epub 2020 Feb 6. Gene. 2020. PMID: 32037035 No abstract available.
Large Left Atrial Appendage Causing Cryptogenic Stroke.
Cinelli M, Shadi M, El-Hosseiny S, Daneshvar F, Tamburrino F. Cinelli M, et al. Among authors: tamburrino f. Cureus. 2019 Oct 24;11(10):e5991. doi: 10.7759/cureus.5991. Cureus. 2019. PMID: 31807379 Free PMC article.
34 results