Search Results - Marco Castori

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  1. 1
    A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?

    A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association? by Zoran Gucev, Marco Castori, Velibor Tasic, Nada Popjordanova, Arijeta Hasani

    Published 2010-01-01
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  2. 2
    A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder

    A new insight on postural tachycardia syndrome in 102 adults with hypermobile Ehlers-Danlos Syndrome/hypermobility spectrum disorder by Claudia Celletti, Beatrice Borsellino, Marco Castori, Federica Censi, Giovanni Calcagnini, Filippo Camerota, Stefano Strano

    Published 2020-05-01
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  3. 3
    Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

    Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. by Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Chiara Dordoni, Marco Ritelli, Marina Venturini, Marco Castori, Marina Colombi

    Published 2016-01-01
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  4. 4
    Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders

    Editorial: Neurodevelopmental, neuropsychiatric and psychosocial correlates of joint hypermobility and related disorders by Vincent Guinchat, Carolina Baeza-Velasco, Carolina Baeza-Velasco, Carolina Baeza-Velasco, Antonio Bulbena, Antonio Bulbena, Marco Castori

    Published 2022-12-01
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  5. 5
    Dermatology Eponyms – sign – Lexicon (P). Part 2

    Dermatology Eponyms – sign – Lexicon (P). Part 2 by Piotr Brzezinski, Masaru Tanaka, Husein Husein-ElAhmed, Marco Castori, Fatou Barro/Traoré, Satish Kashiram Punshi, Anca Chiriac

    Published 2016-07-01
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  6. 6
    Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

    Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the... by Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri

    Published 2020-12-01
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  7. 7
    Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant

    Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant by Serena Calamaio, Marialaura Serzanti, Silvia Morlino, Marialuisa Massardi, Marco Ritelli, Giovanna Piovani, Marina Colombi, Venusia Cortellini, Marco Castori, Patrizia Dell'Era, Lucia Micale

    Published 2022-08-01
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  8. 8
    Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

    Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy by Irene Bottillo, Daniela D’Angelantonio, Viviana Caputo, Alessandro Paiardini, Martina Lipari, Carmelilia De Bernardo, Silvia Majore, Marco Castori, Elisabetta Zachara, Federica Re, Paola Grammatico

    Published 2016-06-01
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  9. 9
    Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction

    Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy... by Maria Pia Leone, Pietro Palumbo, Johan Saenen, Sandra Mastroianno, Stefano Castellana, Cesare Amico, Tommaso Mazza, Domenico Rosario Potenza, Antonio Petracca, Marco Castori, Massimo Carella, Giuseppe Di Stolfo

    Published 2021-05-01
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  10. 10
    Compound Heterozygosity for <i>OTOA</i> Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family

    Compound Heterozygosity for <i>OTOA</i> Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family by Rocco Pio Ortore, Maria Pia Leone, Orazio Palumbo, Antonio Petracca, Eleonora M. C. Trecca, Aurelio D’Ecclesia, Ciro Lucio Vigliaroli, Lucia Micale, Francesco Longo, Salvatore Melchionda, Marco Castori

    Published 2021-09-01
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  11. 11
    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

    The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically i... by Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic

    Published 2020-05-01
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  12. 12
    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

    Published 2020-01-01
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  13. 13
    Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation

    Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation by Carmela Fusco, Grazia Nardella, Bartolomeo Augello, Francesca Boccafoschi, Orazio Palumbo, Luca Fusaro, Angelantonio Notarangelo, Raffaela Barbano, Paola Parrella, Giuseppina Annicchiarico, Carmela De Meco, Lucia Micale, Paolo Graziano, Marco Castori

    Published 2020-07-01
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  14. 14
    Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the <i>PRKG1</i> Gene

    Downexpression of miR-200c-3p Contributes to Achalasia Disease by Targeting the <i>PRKG1</i> Gene by Lucia Micale, Carmela Fusco, Grazia Nardella, Orazio Palmieri, Tiziana Latiano, Domenica Gioffreda, Francesca Tavano, Anna Panza, Antonio Merla, Giuseppe Biscaglia, Marco Gentile, Antonello Cuttitta, Marco Castori, Francesco Perri, Anna Latiano

    Published 2022-12-01
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  15. 15
    Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

    Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation by Angela Maggio, Sandra Mastroianno, Giuseppe Di Stolfo, Stefano Castellana, Pietro Palumbo, Maria Pia Leone, Anita Spirito, Domenico Rosario Potenza, Saverio Ladogana, Marco Castori, Massimo Carella, Massimo Villella, Mauro Pellegrino Salvatori

    Published 2022-02-01
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  16. 16
    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.

    Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. by Deborah Chiabrando, Marco Castori, Maja di Rocco, Martin Ungelenk, Sebastian Gießelmann, Matteo Di Capua, Annalisa Madeo, Paola Grammatico, Sophie Bartsch, Christian A Hübner, Fiorella Altruda, Lorenzo Silengo, Emanuela Tolosano, Ingo Kurth

    Published 2016-12-01
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  17. 17
    The Biallelic Inheritance of Two Novel <i>SCN1A</i> Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam

    The Biallelic Inheritance of Two Novel <i>SCN1A</i> Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam by Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici

    Published 2024-07-01
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  18. 18
    Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial

    Patient-reported outcome measures in patients with familial cerebral cavernous malformations: results from the Treat_CCM trial by Jennifer M. T. A. Meessen, Giorgia Abete-Fornara, Barbara Zarino, Marco Castori, Laura Tassi, Maria R. Carriero, Q. G. D'Alessandris, R. Al-Shahi Salman, Adriana Blanda, Enrico B. Nicolis, Deborah Novelli, Maria Caruana, Antonella Vasamì, Silvia Lanfranconi, Roberto Latini

    Published 2024-02-01
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  19. 19
    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment

    A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment by Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, Roberta Onesimo, Alessandro Cina, Marco Panfili, Lucrezia Perri, Cristiana Agazzi, Valentina Giorgio, Donato Rigante, Giovanni Vento, Patrizia Papacci, Filomena Valentina Paradiso, Sara Silvaroli, Lorenzo Nanni, Nicoletta Resta, Marco Castori, Jacopo Galli, Gaetano Paludetti, Giuseppe Zampino, Chiara Leoni

    Published 2024-07-01
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  20. 20
    Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

    Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia by Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri

    Published 2023-08-01
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