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  1. 1
    TLRs: Innate Immune Sentries against SARS-CoV-2 Infection

    TLRs: Innate Immune Sentries against SARS-CoV-2 Infection by Stefania Mantovani, Barbara Oliviero, Stefania Varchetta, Alessandra Renieri, Mario U. Mondelli

    Published 2023-04-01
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  2. 2
    First Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs' Endothelial Corneal Dystrophy

    First Identification of a Triple Corneal Dystrophy Association: Keratoconus, Epithelial Basement Membrane Corneal Dystrophy and Fuchs' Endothelial Corneal Dystrophy by Cosimo Mazzotta, Claudio Traversi, Frederik Raiskup, Caterina Lo Rizzo, Alessandra Renieri

    Published 2014-09-01
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  3. 3
    Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

    Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype by Gabriella Doddato, Gabriella Doddato, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Chiara Fallerini, Chiara Fallerini, Mirella Bruttini, Mirella Bruttini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani

    Published 2023-01-01
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  4. 4
    Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

    Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype by Gabriella Doddato, Gabriella Doddato, Alessandra Fabbiani, Alessandra Fabbiani, Alessandra Fabbiani, Chiara Fallerini, Chiara Fallerini, Mirella Bruttini, Mirella Bruttini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani, Francesca Ariani

    Published 2021-12-01
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  5. 5
    RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

    RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report by Elisa Gelli, Chiara Fallerini, Floriana Valentino, Annarita Giliberti, Francesca Castiglione, Lucrezia Laschi, Maria Palmieri, Alessandra Fabbiani, Alessandra Fabbiani, Rossella Tita, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Francesca Ariani, Francesca Ariani

    Published 2020-08-01
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  6. 6
    In response to the letter to the editor by Soha Ghanian et al. re our publication “Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males”

    In response to the letter to the editor by Soha Ghanian et al. re our publication “Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in Euro... by Andrea M. Isidori, Marco Marcelli, Maria Grazia Castagna, Margherita Baldassarri, Francesca Fava, Alessandra Renieri

    Published 2021-06-01
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  7. 7
    Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

    Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors by Viola Bianca Serio, Viola Bianca Serio, Maria Palmieri, Maria Palmieri, Simona Innamorato, Simona Innamorato, Lorenzo Loberti, Lorenzo Loberti, Lorenzo Loberti, Chiara Fallerini, Chiara Fallerini, Francesca Ariani, Francesca Ariani, Enrica Antolini, Enrica Antolini, Jasmine Covarelli, Jasmine Covarelli, Massimo Vaghi, Massimo Vaghi, Elisa Frullanti, Elisa Frullanti, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Anna Maria Pinto

    Published 2023-08-01
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  8. 8
    Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

    Identification of a Novel <i>SHANK2</i> Pathogenic Variant in a Patient with a Neurodevelopmental Disorder by Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

    Published 2022-04-01
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  9. 9
    MET is a new confirmed gene responsible for familial distal arthrogryposis

    MET is a new confirmed gene responsible for familial distal arthrogryposis by Debora Maffeo, Anna Carrer, Angela Rina, Loredaria Adamo, Caterina Lo Rizzo, Mirella Bruttini, Alessandra Renieri, Francesca Mari

    Published 2024-03-01
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  10. 10
    Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy

    Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy by Viola Bianca Serio, Maria Palmieri, Lorenzo Loberti, Stefania Granata, Chiara Fallerini, Massimo Vaghi, Alessandra Renieri, Anna Maria Pinto

    Published 2022-06-01
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  11. 11
    Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics

    Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams–Beuren Region by Comparative Genomics by Francesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, Valentina Perticaroli, Virginia Filippini, Francesca Mari, Alessandra Renieri, Alessandra Mezzelani

    Published 2021-10-01
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  12. 12
    SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

    SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures by Amjad Khan, Amjad Khan, Lucia Pia Bruno, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Muhammad Umair, Anna Maria Pinto, Abid Ali Khan, Alamzeb Khan, Saima, Alessandra Fabbiani, Alessandra Fabbiani, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Alessandra Renieri, Alessandra Renieri, Sara Resciniti, Sara Resciniti, Karla A. Peña-Guerra, Francisco J. Guzmán-Vega, Stefan T. Arold, Stefan T. Arold, Francesca Ariani, Francesca Ariani, Francesca Ariani, Shahid Niaz Khan

    Published 2022-06-01
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  13. 13
    The Medical Community’s Role in Communication Strategies during Health Crises—Perspective from European Union of Medical Specialists (UEMS)

    The Medical Community’s Role in Communication Strategies during Health Crises—Perspective from European Union of Medical Specialists (UEMS) by Ilia Nadareishvili, Theodore Bazas, Nicola Petrosillo, Vojko Berce, John Firth, Armando Mansilha, Mihaela Leventer, Alessandra Renieri, Mauro Zampolini, Vassilios Papalois

    Published 2023-07-01
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  14. 14
    Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier

    Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier by Astgik Petrosyan, Paolo Cravedi, Valentina Villani, Andrea Angeletti, Joaquin Manrique, Alessandra Renieri, Roger E. De Filippo, Laura Perin, Stefano Da Sacco

    Published 2019-10-01
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  15. 15
    PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis

    PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis by Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Giuseppe Maria Campennì, Maria Antonietta Mencarelli, Rossella Tita, Stefania Marsili, Alessandra Renieri, Elisa Frullanti

    Published 2019-10-01
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  16. 16
    An explainable model of host genetic interactions linked to COVID-19 severity

    An explainable model of host genetic interactions linked to COVID-19 severity by Anthony Onoja, Nicola Picchiotti, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, GEN-COVID Multicenter Study, Francesca Colombo, Francesca Chiaromonte, Alessandra Renieri, Simone Furini, Francesco Raimondi

    Published 2022-10-01
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  17. 17
    Clinical, molecular and glycophenotype insights in SLC39A8-CDG

    Clinical, molecular and glycophenotype insights in SLC39A8-CDG by Eleonora Bonaventura, Rita Barone, Luisa Sturiale, Rosa Pasquariello, Maria Grazia Alessandrì, Anna Maria Pinto, Alessandra Renieri, Celeste Panteghini, Barbara Garavaglia, Giovanni Cioni, Roberta Battini

    Published 2021-07-01
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  18. 18
    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

    X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases by Antonio Mastrangelo, Marisa Giani, Elena Groppali, Pierangela Castorina, Giulia Soldà, Giulia Soldà, Michela Robusto, Chiara Fallerini, Mirella Bruttini, Alessandra Renieri, Giovanni Montini, Giovanni Montini

    Published 2020-11-01
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  19. 19
    JNK signaling provides a novel therapeutic target for Rett syndrome

    JNK signaling provides a novel therapeutic target for Rett syndrome by Clara Alice Musi, Anna Maria Castaldo, Anna Elisa Valsecchi, Sara Cimini, Noemi Morello, Riccardo Pizzo, Alessandra Renieri, Ilaria Meloni, Maurizio Bonati, Maurizio Giustetto, Tiziana Borsello

    Published 2021-12-01
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  20. 20
    Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant

    Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant by Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello, on behalf of their respective Scientific Societies

    Published 2017-11-01
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