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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1991 3
1992 7
1993 4
1994 8
1995 10
1996 8
1997 13
1998 6
1999 14
2000 12
2001 11
2002 9
2003 16
2004 8
2005 13
2006 13
2007 15
2008 16
2009 16
2010 13
2011 19
2012 12
2013 13
2014 15
2015 20
2016 7
2017 20
2018 27
2019 23
2020 24
2021 29
2022 23
2023 4
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Search Results

397 results
Results by year
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Page 1
Cardiovascular disease in Down syndrome.
Versacci P, Di Carlo D, Digilio MC, Marino B. Versacci P, et al. Among authors: digilio mc. Curr Opin Pediatr. 2018 Oct;30(5):616-622. doi: 10.1097/MOP.0000000000000661. Curr Opin Pediatr. 2018. PMID: 30015688 Review.
Practical guidelines for managing patients with 22q11.2 deletion syndrome.
Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J; International 22q11.2 Deletion Syndrome Consortium. Bassett AS, et al. Among authors: digilio mc. J Pediatr. 2011 Aug;159(2):332-9.e1. doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12. J Pediatr. 2011. PMID: 21570089 Free PMC article. No abstract available.
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Among authors: digilio mc. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Lioncino M, Monda E, Verrillo F, Moscarella E, Calcagni G, Drago F, Marino B, Digilio MC, Putotto C, Calabrò P, Russo MG, Roberts AE, Gelb BD, Tartaglia M, Limongelli G. Lioncino M, et al. Among authors: digilio mc. Heart Fail Clin. 2022 Jan;18(1):19-29. doi: 10.1016/j.hfc.2021.07.004. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776080 Free PMC article. Review.
Congenital heart defects in the recurrent 2q13 deletion syndrome.
Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P. Digilio MC, et al. Eur J Med Genet. 2022 Jan;65(1):104381. doi: 10.1016/j.ejmg.2021.104381. Epub 2021 Nov 8. Eur J Med Genet. 2022. PMID: 34763108 Review.
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Martinelli S, Stellacci E, Pannone L, D'Agostino D, Consoli F, Lissewski C, Silvano M, Cencelli G, Lepri F, Maitz S, Pauli S, Rauch A, Zampino G, Selicorni A, Melançon S, Digilio MC, Gelb BD, De Luca A, Dallapiccola B, Zenker M, Tartaglia M. Martinelli S, et al. Among authors: digilio mc. Hum Mutat. 2015 Aug;36(8):787-96. doi: 10.1002/humu.22809. Epub 2015 Jun 1. Hum Mutat. 2015. PMID: 25952305 Free article.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study; Woolf AS, Banka S. Cuvertino S, et al. Among authors: digilio mc. Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006. Am J Hum Genet. 2017. PMID: 29220674 Free PMC article.
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height.
Libraro A, D'Ascanio V, Cappa M, Chiarito M, Digilio MC, Einaudi S, Grandone A, Maghnie M, Mazzanti L, Mussa A, Patti G, Scarano E, Spinuzza A, Vannelli S, Wasniewska MG, Ferrero GB, Faienza MF. Libraro A, et al. Among authors: digilio mc. Front Endocrinol (Lausanne). 2021 Dec 22;12:761171. doi: 10.3389/fendo.2021.761171. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 35002956 Free PMC article.
Genetics of atrioventricular canal defects.
Pugnaloni F, Digilio MC, Putotto C, De Luca E, Marino B, Versacci P. Pugnaloni F, et al. Among authors: digilio mc. Ital J Pediatr. 2020 May 13;46(1):61. doi: 10.1186/s13052-020-00825-4. Ital J Pediatr. 2020. PMID: 32404184 Free PMC article. Review.
397 results