Search Results - "Di Mari, Alessia"

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    A New 12q21 Deletion Syndrome: A Case Report and Literature Review by Di Nora, Alessandra, De Costa, Greta, Di Mari, Alessia, Montemagno, Marco, Pavone, Vito, Pavone, Piero

    Published in Global medical genetics (01-09-2022)
    “…Abstract Diagnosis in children with physical and intellective anomalies is very challenging because of the wide spectrum of causes. Array-based comparative…”
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    Journal Article
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    Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome by Inserra, Maria Cristina, Di Mari, Alessia, Passaniti, Giulia, Cannizzaro, Maria Teresa, La Rosa, Giuliana, Poli, Daniela, Gitto, Placido, Patanè, Laura, Romeo, Placido

    Published in Global medical genetics (01-12-2023)
    “…Abstract Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well…”
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    Journal Article
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    Pulmonary Vasculitides: A Radiological Review Emphasizing Parenchymal HRCT Features by Palmucci, Stefano, Inì, Corrado, Cosentino, Salvatore, Fanzone, Luigi, Di Pietro, Stefano, Di Mari, Alessia, Galioto, Federica, Tiralongo, Francesco, Vignigni, Giovanna, Toscano, Stefano, Sambataro, Gianluca, Vancheri, Carlo, Distefano, Giulio, Basile, Antonio

    Published in Diagnostics (Basel) (09-12-2021)
    “…Vasculitides represent a heterogeneous group of immune-mediated disorders, characterized by a systemic inflammatory destructive process of the blood vessels…”
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    Journal Article
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    Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved by Di Nora, Alessandra, Lena, Germana, Giugno, Andrea, Di Mari, Alessia, Smilari, Pierluigi, Minardi, Carmelo, Pavone, Piero

    Published in Global medical genetics (01-09-2021)
    “…In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last…”
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    Journal Article
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    Non traumatic intrathoracic liver herniation mimicking a pulmonary metastasis in patient with breast cancer: A case report by Di Mari, Alessia, Failla, Giovanni, Farina, Renato, Conti, Andrea, Foti, Pietro, Pennisi, Isabella, Tallamona, Eliana, Inì, Corrado, Tuzza, Greta, Vasile, Tiziana, Basile, Antonio

    Published in Radiology case reports (01-11-2021)
    “…Non-traumatic hepatic hernia is defined as hepatic protrusion through acquired or congenital defects on diaphragm without prior trauma. This event is rare…”
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    Journal Article
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    Superior mesenteric artery syndrome (Wilkie Syndrome) with unusual clinical onset: Description of a rare case by Farina, Renato, Foti, Pietro Valerio, Coronella, Maria, Pennisi, Isabella, Libra, Federica, Di Mari, Alessia, Gozzo, Cecilia, Vasile, Tiziana, Lamirata, Elena, Veroux, Massimiliano, Basile, Guido, Basile, Antonio

    Published in Radiology case reports (01-10-2021)
    “…Wilkie's Syndrome is a very rare disease caused by reduction of aorto-mesenteric space with consequent duodenum compression. It can combine with left renal…”
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    Journal Article
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    SKELETAL PAIN IN CHILDREN: DON’T FORGET SCURVY! A PAEDIATRIC CASE SERIES by Alessandra Di Nora

    Published in Euromediterranean biomedical journal (01-04-2023)
    “…Appropriate nutritional intake is an important aspect in children’s overall health. In developed countries, malnutrition is related to chronic illness or…”
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    Journal Article
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    HEMATURIA IN HEMOPHILIA: WHAT DO WE KNOW? A CHALLENGING CASE STUDY AND LITERATURE REVIEW by Alessandra Di Nora

    Published in Euromediterranean biomedical journal (01-02-2022)
    “…Hemophilia is a genetically determined bleeding disorder, which, if not properly managed, can cause lifelong disabilities. Hemorrhages in the joints and soft…”
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    Journal Article
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    Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome by Inserra, Maria Cristina, Di Mari, Alessia, Passaniti, Giulia, Cannizzaro, Maria Teresa, La Rosa, Giuliana, Poli, Daniela, Gitto, Placido, Patanè, Laura, Romeo, Placido

    Published in Global medical genetics (01-12-2023)
    “…Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and…”
    Get full text
    Report
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    Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved by Di Nora, Alessandra, Lena, Germana, Giugno, Andrea, Di Mari, Alessia, Smilari, Pierluigi, Minardi, Carmelo, Pavone, Piero

    Published in Global medical genetics (01-09-2021)
    “…In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last…”
    Get full text
    Report
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