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Year Number of Results
1967 1
1969 1
1992 1
1993 1
1994 1
1995 1
1996 3
1997 2
1998 1
1999 3
2001 1
2003 1
2004 1
2007 1
2008 2
2009 1
2010 2
2012 3
2013 3
2015 2
2016 5
2017 5
2018 4
2019 3
2020 2
2021 4
2023 3
2024 1

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52 results

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Page 1
Editorial: The Skin in Cancer Predisposition Syndromes.
Turolla L, Mammi I. Turolla L, et al. Among authors: mammi i. Front Med (Lausanne). 2021 Nov 8;8:774704. doi: 10.3389/fmed.2021.774704. eCollection 2021. Front Med (Lausanne). 2021. PMID: 34820405 Free PMC article. No abstract available.
A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient.
Bandini E, Zampiga V, Cangini I, Ravegnani M, Arcangeli V, Rossi T, Mammi I, Schiavi F, Zovato S, Falcini F, Calistri D, Danesi R. Bandini E, et al. Among authors: mammi i. Int J Mol Sci. 2023 Aug 4;24(15):12418. doi: 10.3390/ijms241512418. Int J Mol Sci. 2023. PMID: 37569793 Free PMC article.
Methimazole embryopathy: delineation of the phenotype.
Clementi M, Di Gianantonio E, Pelo E, Mammi I, Basile RT, Tenconi R. Clementi M, et al. Among authors: mammi i. Am J Med Genet. 1999 Mar 5;83(1):43-6. Am J Med Genet. 1999. PMID: 10076883 Review.
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: mammi i. 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.
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Garavelli L, et al. Among authors: mammi i. Genet Med. 2017 Jun;19(6):691-700. doi: 10.1038/gim.2016.176. Epub 2016 Nov 10. Genet Med. 2017. PMID: 27831545 Free PMC article.
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.
Cordeddu V, Macke EL, Radio FC, Lo Cicero S, Pantaleoni F, Tatti M, Bellacchio E, Ciolfi A, Agolini E, Bruselles A, Brunetti-Pierri N, Suri M, Josephs KS, McEntagart M, Lanpher B, Nickels KC, Haworth A, Reed L, Cappuccio G, Mammi I, Tarnowski JM, Novelli A; Deciphering Developmental Disorders Study; Melis D, Callewaert B, Dallapiccola B, Klee E, Tartaglia M. Cordeddu V, et al. Among authors: mammi i. Clin Genet. 2020 Aug;98(2):172-178. doi: 10.1111/cge.13775. Epub 2020 Jun 3. Clin Genet. 2020. PMID: 32415735
52 results