Works by Mancini, M.

Results: 325
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    Cancer cell-selective induction of mitochondrial stress and immunogenic cell death by PT-112 in human prostate cell lines.

    Published in:
    Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05739-x
    By:
    • Soler-Agesta, R.;
    • Moreno-Loshuertos, R.;
    • Yim, C. Y.;
    • Congenie, M. T.;
    • Ames, T. D.;
    • Johnson, H. L.;
    • Stossi, F.;
    • Mancini, M. G.;
    • Mancini, M. A.;
    • Ripollés-Yuba, C.;
    • Marco-Brualla, J.;
    • Junquera, C.;
    • Martínez-De-Mena, R.;
    • Enríquez, J. A.;
    • Price, M. R.;
    • Jimeno, J.;
    • Anel, A.
    Publication type:
    Article
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    A RARE CASE OF PERITONEAL MESOTHELIOMA IN A MALE WITH ASCITES.

    Published in:
    American Journal of Gastroenterology (Springer Nature), 1994, v. 89, n. 12, p. 2257
    By:
    • Stefanini, G. F.;
    • Foschi, F. G.;
    • Marsigli, L.;
    • Celi, A.;
    • Addolorato, G.;
    • Castelli, E.;
    • D'Errico, A.;
    • Mancini, A. M.;
    • Martoni, A.;
    • Gasbarrini, G.
    Publication type:
    Article
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    The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587
    By:
    • Furia, Francesca;
    • Levy, Amanda M.;
    • Theunis, Miel;
    • Bamshad, Michael J.;
    • Bartos, Meghan N.;
    • Bijlsma, Emilia K.;
    • Brancati, Francesco;
    • Cejudo, Lucile;
    • Chong, Jessica X.;
    • De Luca, Chiara;
    • Dean, Sarah Joy;
    • Egense, Alena;
    • Goel, Himanshu;
    • Guenzel, Adam J.;
    • Hüffmeier, Ulrike;
    • Legius, Eric;
    • Mancini, Grazia M. S.;
    • Marcos‐Alcalde, Iñigo;
    • Niclass, Tanguy;
    • Planes, Marc
    Publication type:
    Article
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    A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 1, p. 32, doi. 10.1111/cge.14027
    By:
    • Douzgou, Sofia;
    • Rawson, Myfanwy;
    • Baselga, Eulalia;
    • Danielpour, Moise;
    • Faivre, Laurence;
    • Kashanian, Alon;
    • Keppler‐Noreuil, Kim M.;
    • Kuentz, Paul;
    • Mancini, Grazia M. S.;
    • Maniere, Marie‐Cecile;
    • Martinez‐Glez, Victor;
    • Parker, Victoria E.;
    • Semple, Robert K.;
    • Srivastava, Siddharth;
    • Vabres, Pierre;
    • De Wit, Marie‐Claire Y.;
    • Graham, John M.;
    • Clayton‐Smith, Jill;
    • Mirzaa, Ghayda M.;
    • Biesecker, Leslie G.
    Publication type:
    Article
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    The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article
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    The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 999, doi. 10.1038/ejhg.2010.70
    By:
    • Paulussen, Aimée D. C.;
    • Schrander-Stumpel, Constance T.;
    • Tserpelis, Demis C. J.;
    • Spee, Matteus K. M.;
    • Stegmann, Alexander P. A.;
    • Mancini, Grazia M.;
    • Brooks, Alice S.;
    • Collée, Margriet;
    • Maat-Kievit, Anneke;
    • Simon, Marleen E. H.;
    • van Bever, Yolande;
    • Stolte-Dijkstra, Irene;
    • Kerstjens-Frederikse, Wilhelmina S.;
    • Herkert, Johanna C.;
    • van Essen, Anthonie J.;
    • Lichtenbelt, Klaske D.;
    • van Haeringen, Arie;
    • Kwee, Mei L.;
    • Lachmeijer, Augusta M. A.;
    • Tan-Sindhunata, Gita M. B.
    Publication type:
    Article
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    Reply to Bland and Jones.

    Published in:
    Clinical Infectious Diseases, 2021, v. 72, n. 10, p. 1867, doi. 10.1093/cid/ciaa980
    By:
    • Mancini, Christian M;
    • Kuper, Kristi;
    • Schulz, Lucas T;
    • Bhowmick, Tanaya;
    • Postelnick, Michael;
    • Lee, Francesca;
    • Blumenthal, Kimberly G
    Publication type:
    Article
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    Penicillin Allergy Evaluation Access: A National Survey.

    Published in:
    Clinical Infectious Diseases, 2020, v. 71, n. 11, p. 2972, doi. 10.1093/cid/ciaa567
    By:
    • Mancini, Christian M.;
    • Xiaoqing Fu;
    • Yuqing Zhang;
    • Kuper, Kristi;
    • Schulz, Lucas T.;
    • Bhowmick, Tanaya;
    • Postelnick, Michael;
    • Lee, Francesca;
    • Walensky, Rochelle P.;
    • Blumenthal, Kimberly G.
    Publication type:
    Article
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    Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article
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    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091
    By:
    • Rivière, Jean-Baptiste;
    • van Bon, Bregje W M;
    • Hoischen, Alexander;
    • Kholmanskikh, Stanislav S;
    • O'Roak, Brian J;
    • Gilissen, Christian;
    • Gijsen, Sabine;
    • Sullivan, Christopher T;
    • Christian, Susan L;
    • Abdul-Rahman, Omar A;
    • Atkin, Joan F;
    • Chassaing, Nicolas;
    • Drouin-Garraud, Valerie;
    • Fry, Andrew E;
    • Fryns, Jean-Pierre;
    • Gripp, Karen W;
    • Kempers, Marlies;
    • Kleefstra, Tjitske;
    • Mancini, Grazia M S;
    • Nowaczyk, Ma?gorzata J M
    Publication type:
    Article
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    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 4, p. 452, doi. 10.1038/ng1764
    By:
    • Coucke, Paul J.;
    • Willaert, Andy;
    • Wessels, Marja W.;
    • Callewaert, Bert;
    • Zoppi, Nicoletta;
    • De Backer, Julie;
    • Fox, Joyce E.;
    • Mancini, Grazia M. S.;
    • Kambouris, Marios;
    • Gardella, Rita;
    • Facchetti, Fabio;
    • Willems, Patrick J.;
    • Forsyth, Ramses;
    • Dietz, Harry C.;
    • Barlati, Sergio;
    • Colombi, Marina;
    • Loeys, Bart;
    • De Paepe, Anne
    Publication type:
    Article