Found: 11

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  • De novo unbalanced translocations have a complex history/aetiology.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 817, doi. 10.1007/s00439-018-1941-9
    By:
    • Bonaglia, Maria Clara;
    • Kurtas, Nehir Edibe;
    • Errichiello, Edoardo;
    • Bertuzzo, Sara;
    • Beri, Silvana;
    • Mehrjouy, Mana M.;
    • Provenzano, Aldesia;
    • Vergani, Debora;
    • Pecile, Vanna;
    • Novara, Francesca;
    • Reho, Paolo;
    • Di Giacomo, Marilena Carmela;
    • Discepoli, Giancarlo;
    • Giorda, Roberto;
    • Aldred, Micheala A.;
    • Santos-Rebouças, Cíntia Barros;
    • Goncalves, Andressa Pereira;
    • Abuelo, Diane N.;
    • Giglio, Sabrina;
    • Ricca, Ivana
    Publication type:
    Article

  • Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
    By:
    • Bayram, Ece;
    • Reho, Paolo;
    • Litvan, Irene;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Dalgard, Clifton L.;
    • Traynor, Bryan J.;
    • Scholz, Sonja W.;
    • Chia, Ruth
    Publication type:
    Article

  • Genetic analysis of the X chromosome in people with Lewy body dementia nominates new risk loci.

    Published in:
    NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00649-7
    By:
    • Bayram, Ece;
    • Reho, Paolo;
    • Litvan, Irene;
    • Ding, Jinhui;
    • Gibbs, J. Raphael;
    • Dalgard, Clifton L.;
    • Traynor, Bryan J.;
    • Scholz, Sonja W.;
    • Chia, Ruth
    Publication type:
    Article

  • Clinical and Genetic Profiles of Young Adult Patients with Myelodysplastic Syndromes.

    Published in:
    Clinical Lymphoma, Myeloma & Leukemia, 2019, v. 19, p. S347, doi. 10.1016/j.clml.2019.07.355
    By:
    • Attardi, Enrico;
    • Provenzano, Aldesia;
    • Reho, Paolo;
    • Raddi, Marco Gabriele;
    • Fani, Arianna;
    • Masala, Erico;
    • Brogi, Alice;
    • Giglio, Sabrina;
    • Santini, Valeria
    Publication type:
    Article

  • Evaluation of SORL1 in Lewy Body Dementia Identifies No Significant Associations.

    Published in:
    Movement Disorders, 2022, v. 37, n. 11, p. 2312, doi. 10.1002/mds.29207
    By:
    • Ray, Anindita;
    • Reho, Paolo;
    • Shah, Zalak;
    • Scholz, Sonja W.
    Publication type:
    Article

  • GRN Mutations Are Associated with Lewy Body Dementia.

    Published in:
    2022
    By:
    • Reho, Paolo;
    • Koga, Shunsuke;
    • Shah, Zalak;
    • Chia, Ruth;
    • Rademakers, Rosa;
    • Dalgard, Clifton L.;
    • Boeve, Bradley F.;
    • Beach, Thomas G.;
    • Dickson, Dennis W.;
    • Ross, Owen A.;
    • Scholz, Sonja W.;
    • International LBD Genomics Consortium;
    • American Genome Center
    Publication type:
    journal article

  • Cover Image.

    Published in:
    Prenatal Diagnosis, 2020, v. 40, n. 7, p. 1, doi. 10.1002/pd.5776
    By:
    • Provenzano, Aldesia;
    • Palazzo, Viviana;
    • Reho, Paolo;
    • Pagliazzi, Angelica;
    • Marozza, Annabella;
    • Farina, Antonio;
    • Zuffardi, Orsetta;
    • Giglio, Sabrina
    Publication type:
    Article

  • Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome.

    Published in:
    2020
    By:
    • Provenzano, Aldesia;
    • Palazzo, Viviana;
    • Reho, Paolo;
    • Pagliazzi, Angelica;
    • Marozza, Annabella;
    • Farina, Antonio;
    • Zuffardi, Orsetta;
    • Giglio, Sabrina
    Publication type:
    Case Study

  • Small supernumerary marker chromosomes: A legacy of trisomy rescue?

    Published in:
    Human Mutation, 2019, v. 40, n. 2, p. 193, doi. 10.1002/humu.23683
    By:
    • Kurtas, Nehir Edibe;
    • Xumerle, Luciano;
    • Leonardelli, Lorena;
    • Delledonne, Massimo;
    • Brusco, Alfredo;
    • Chrzanowska, Krystyna;
    • Schinzel, Albert;
    • Larizza, Daniela;
    • Guerneri, Silvana;
    • Natacci, Federica;
    • Bonaglia, Maria Clara;
    • Reho, Paolo;
    • Manolakos, Emmanouil;
    • Mattina, Teresa;
    • Soli, Fiorenza;
    • Provenzano, Aldesia;
    • Al‐Rikabi, Ahmed H.;
    • Errichiello, Edoardo;
    • Nazaryan‐Petersen, Lusine;
    • Giglio, Sabrina
    Publication type:
    Article

  • Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.

    Published in:
    Human Mutation, 2017, v. 38, n. 3, p. 260, doi. 10.1002/humu.23140
    By:
    • Novara, Francesca;
    • Groeneweg, Stefan;
    • Freri, Elena;
    • Estienne, Margherita;
    • Reho, Paolo;
    • Matricardi, Sara;
    • Castellotti, Barbara;
    • Visser, W. Edward;
    • Zuffardi, Orsetta;
    • Visser, Theo J.
    Publication type:
    Article

  • Differential methylation analysis in neuropathologically confirmed dementia with Lewy bodies.

    Published in:
    Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-023-05725-x
    By:
    • Reho, Paolo;
    • Saez-Atienzar, Sara;
    • Ruffo, Paola;
    • Solaiman, Sultana;
    • Shah, Zalak;
    • Chia, Ruth;
    • Kaivola, Karri;
    • Traynor, Bryan J.;
    • Tilley, Bension S.;
    • Gentleman, Steve M.;
    • Hodges, Angela K.;
    • Aarsland, Dag;
    • Monuki, Edwin S.;
    • Newell, Kathy L.;
    • Woltjer, Randy;
    • Albert, Marilyn S.;
    • Dawson, Ted M.;
    • Rosenthal, Liana S.;
    • Troncoso, Juan C.;
    • Pletnikova, Olga
    Publication type:
    Article