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

Year Number of Results
1979 1
1980 1
1981 1
1985 2
1987 1
1988 2
1989 1
1991 2
1994 1
1995 2
1996 4
1997 1
1999 1
2001 1
2003 1
2004 2
2005 2
2006 1
2007 4
2008 3
2009 3
2010 3
2011 2
2012 3
2013 3
2014 3
2015 1
2016 2
2017 6
2018 6
2019 8
2020 5
2021 6
2022 2
2023 2

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74 results

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Page 1
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
Antley-Bixler syndrome.
Mattina T, Pierluigi M, Perfumo C, Mazzone D, Scardilli S, Mollica F. Mattina T, et al. Clin Genet. 1996 Oct;50(4):277. doi: 10.1111/j.1399-0004.1996.tb02646.x. Clin Genet. 1996. PMID: 9001819 No abstract available.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: mattina t. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.
Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Among authors: mattina t. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: mattina t. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
Kurtas NE, Xumerle L, Leonardelli L, Delledonne M, Brusco A, Chrzanowska K, Schinzel A, Larizza D, Guerneri S, Natacci F, Bonaglia MC, Reho P, Manolakos E, Mattina T, Soli F, Provenzano A, Al-Rikabi AH, Errichiello E, Nazaryan-Petersen L, Giglio S, Tommerup N, Liehr T, Zuffardi O. Kurtas NE, et al. Among authors: mattina t. Hum Mutat. 2019 Feb;40(2):193-200. doi: 10.1002/humu.23683. Epub 2018 Nov 22. Hum Mutat. 2019. PMID: 30412329 Free article.
Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.
Recalcati MP, Bonati MT, Beltrami N, Cardarelli L, Catusi I, Costa A, Garzo M, Mammi I, Mattina T, Nalesso E, Nardone AM, Postorivo D, Sajeva A, Varricchio A, Verri A, Villa N, Larizza L, Giardino D. Recalcati MP, et al. Among authors: mattina t. Eur J Med Genet. 2018 Mar;61(3):173-180. doi: 10.1016/j.ejmg.2017.11.007. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29174090 Review.
74 results