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234 results

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Page 1
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: baban a. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
RASopathies: Clinical Diagnosis in the First Year of Life.
Digilio MC, Lepri F, Baban A, Dentici ML, Versacci P, Capolino R, Ferese R, De Luca A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: baban a. Mol Syndromol. 2011 Sep;1(6):282-289. doi: 10.1159/000331266. Epub 2011 Sep 14. Mol Syndromol. 2011. PMID: 22190897 Free PMC article.
Atrioventricular canal defect in patients with RASopathies.
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: baban a. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.
Congenital heart defects in Noonan syndrome and RIT1 mutation.
Calcagni G, Baban A, Lepri FR, Marino B, Tartaglia M, Digilio MC. Calcagni G, et al. Among authors: baban a. Genet Med. 2016 Dec;18(12):1320. doi: 10.1038/gim.2016.137. Epub 2016 Sep 29. Genet Med. 2016. PMID: 27684039 Free article. No abstract available.
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.
Calcagni G, Limongelli G, D'Ambrosio A, Gesualdo F, Digilio MC, Baban A, Albanese SB, Versacci P, De Luca E, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Russo MG, Pacileo G, Milanesi O, Messina D, Marasini M, Cairello F, Formigari R, Brighenti M, Dallapiccola B, Tartaglia M, Marino B. Calcagni G, et al. Among authors: baban a. Int J Cardiol. 2017 Oct 15;245:92-98. doi: 10.1016/j.ijcard.2017.07.068. Epub 2017 Jul 21. Int J Cardiol. 2017. PMID: 28768581
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.
Calcagni G, Gagliostro G, Limongelli G, Unolt M, De Luca E, Digilio MC, Baban A, Albanese SB, Ferrero GB, Baldassarre G, Agnoletti G, Banaudi E, Marek J, Kaski JP, Tuo G, Marasini M, Cairello F, Madrigali A, Pacileo G, Russo MG, Milanesi O, Formigari R, Brighenti M, Ragni L, Donti A, Drago F, Dallapiccola B, Tartaglia M, Marino B, Versacci P. Calcagni G, et al. Among authors: baban a. Birth Defects Res. 2020 Jun;112(10):725-731. doi: 10.1002/bdr2.1670. Birth Defects Res. 2020. PMID: 32558384
234 results