Works by Cappellani, Stefania


Results: 9
    1

    Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate.

    Published in:
    Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1056
    By:
    • Catusi, Ilaria;
    • Recalcati, Maria Paola;
    • Bestetti, Ilaria;
    • Garzo, Maria;
    • Valtorta, Chiara;
    • Alfonsi, Melissa;
    • Alghisi, Alberta;
    • Cappellani, Stefania;
    • Casalone, Rosario;
    • Caselli, Rossella;
    • Ceccarini, Caterina;
    • Ceglia, Carlo;
    • Ciaschini, Anna Maria;
    • Coviello, Domenico;
    • Crosti, Francesca;
    • D'Aprile, Annamaria;
    • Fabretto, Antonella;
    • Genesio, Rita;
    • Giagnacovo, Marzia;
    • Granata, Paola
    Publication type:
    Article
    2
    3
    4

    Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.

    Published in:
    Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.982508
    By:
    • Feresin, Agnese;
    • Stampalija, Tamara;
    • Cappellani, Stefania;
    • Bussani, Rossana;
    • Faletra, Flavio;
    • Murru, Flora;
    • Ulivi, Sheila;
    • Suergiu, Sarah;
    • Savarese, Pasquale;
    • Pedicini, Antonio;
    • Policicchio, Margherita;
    • Ruggiero, Raffaella;
    • Bosio, Barbara;
    • Savarese, Giovanni;
    • Ardisia, Carmela
    Publication type:
    Article
    5

    Genome‐wide association studies of response and side effects to the BNT162b2 vaccine in Italian healthcare workers: Increased antibody levels and side effects in carriers of the HLA‐A*03:01 allele.

    Published in:
    HLA: Immune Response Genetics, 2023, v. 102, n. 6, p. 707, doi. 10.1111/tan.15157
    By:
    • Magri, Chiara;
    • Marchina, Eleonora;
    • Sansone, Emanuele;
    • D'Adamo, Adamo Pio;
    • Cappellani, Stefania;
    • Bonfanti, Carlo;
    • Terlenghi, Luigina;
    • Biasiotto, Giorgio;
    • Zanella, Isabella;
    • Sala, Emma;
    • Caruso, Arnaldo;
    • Lombardo, Massimo;
    • Gasparini, Paolo;
    • De Palma, Giuseppe;
    • Gennarelli, Massimo
    Publication type:
    Article
    6
    7

    What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

    Published in:
    Genes, 2022, v. 13, n. 11, p. 1958, doi. 10.3390/genes13111958
    By:
    • Bianco, Anna Monica;
    • Ragusa, Giulia;
    • Di Carlo, Valentina;
    • Faletra, Flavio;
    • Di Stazio, Mariateresa;
    • Racano, Costantina;
    • Trisolino, Giovanni;
    • Cappellani, Stefania;
    • De Pellegrin, Maurizio;
    • d'Addetta, Ignazio;
    • Carluccio, Giuseppe;
    • Monforte, Sergio;
    • Andreacchio, Antonio;
    • Dibello, Daniela;
    • d'Adamo, Adamo P.
    Publication type:
    Article
    8

    Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6.

    Published in:
    Genome Biology, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s13059-018-1457-6
    By:
    • Prins, Bram P.;
    • Mead, Timothy J.;
    • Brody, Jennifer A.;
    • Sveinbjornsson, Gardar;
    • Ntalla, Ioanna;
    • Bihlmeyer, Nathan A.;
    • van den Berg, Marten;
    • Bork-Jensen, Jette;
    • Cappellani, Stefania;
    • Van Duijvenboden, Stefan;
    • Klena, Nikolai T.;
    • Gabriel, George C.;
    • Liu, Xiaoqin;
    • Gulec, Cagri;
    • Grarup, Niels;
    • Haessler, Jeffrey;
    • Hall, Leanne M.;
    • Iorio, Annamaria;
    • Isaacs, Aaron;
    • Li-Gao, Ruifang
    Publication type:
    Article
    9

    32 Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

    Published in:
    Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0120-0
    By:
    • Iossa, Sandra;
    • Costa, Valerio;
    • Corvino, Virginia;
    • Auletta, Gennaro;
    • Barruffo, Luigi;
    • Cappellani, Stefania;
    • Ceglia, Carlo;
    • Cennamo, Giovanni;
    • D'Adamo, Adamo Pio;
    • D'Amico, Alessandra;
    • Di Paolo, Nilde;
    • Forte, Raimondo;
    • Gasparini, Paolo;
    • Laria, Carla;
    • Lombardo, Barbara;
    • Malesci, Rita;
    • Vitale, Andrea;
    • Marciano, Elio;
    • Franzè, Annamaria
    Publication type:
    Article