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57 results for Iascone,+Maria

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Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation
Author / Creator:Tonduti, Davide ; Mura, Eleonora ; Masnada, Silvia ; Bertini, Enrico ; Aiello, Chiara ; Zini, Daniela ; Parmeggiani, Lucio ; Cantalupo, Gaetano ; Talenti, Giacomo ; Veggiotti, Pierangelo ; Spaccini, Luigina ; Iascone, Maria ; Parazzini, Cecilia
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-10, Vol.66 (10), p.1035-1037
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ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype
Author / Creator:Ferrara, Giusi ; Cutillo, Gianni ; Peterlongo, Irene ; Minacapilli, Eleonora ; Iascone, Maria ; Veggiotti, Pierangelo ; Fiocchi, Isabella
Publisher:Oxford: John Wiley & Sons, Inc
Journal title:Annals of the Child Neurology Society, 2024-03, Vol.2 (1), p.73-78
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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
Author / Creator:Castiglioni, Silvia ; Pezzoli, Laura ; Pezzani, Lidia ; Lettieri, Antonella ; Di Fede, Elisabetta ; Cereda, Anna ; Ancona, Silvia ; Gallina, Andrea ; Colombo, Elisa Adele ; Parodi, Chiara ; Grazioli, Paolo ; Taci, Esi ; Milani, Donatella ; Iascone, Maria ; Massa, Valentina ; Gervasini, Cristina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-12, Vol.19 (1), p.481-9, Article 481
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P2X7R mutation disrupts the NLRP3-mediated Th program and predicts poor cardiac allograft outcomes
Author / Creator:D’Addio, Francesca ; Vergani, Andrea ; Potena, Luciano ; Maestroni, Anna ; Usuelli, Vera ; Ben Nasr, Moufida ; Bassi, Roberto ; Tezza, Sara ; Dellepiane, Sergio ; El Essawy, Basset ; Iascone, Maria ; Iacovoni, Attilio ; Borgese, Laura ; Liu, Kaifeng ; Visner, Gary ; Dhe-Paganon, Sirano ; Corradi, Domenico ; Abdi, Reza ; Starling, Randall C. ; Folli, Franco ; Zuccotti, Gian Vincenzo ; Sayegh, Mohamed H. ; Heeger, Peter S. ; Chandraker, Anil ; Grigioni, Francesco ; Fiorina, Paolo
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2018-08, Vol.128 (8), p.3490-3503
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Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome
Author / Creator:Capecchi, Ester ; Villa, Roberta ; Pini, Alessandro ; Iascone, Maria ; Messina, Laura ; Ajmone, Paola Francesca ; Mosca, Fabio ; Gangi, Silvana ; Bedeschi, Maria Francesca
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2024-05, Vol.50 (1), p.94-6, Article 94
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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature
Author / Creator:Picciolli, Irene ; Ratti, Angelo ; Rinaldi, Berardo ; Baban, Anwar ; Iascone, Maria ; Francescato, Gaia ; Cappelleri, Alessia ; Magliozzi, Monia ; Novelli, Antonio ; Parlapiano, Giovanni ; Colli, Anna Maria ; Persico, Nicola ; Carugo, Stefano ; Mosca, Fabio ; Bedeschi, Maria Francesca
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2024-08, Vol.50 (1), p.156-8, Article 156
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Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child
Author / Creator:Faraguna, Martha Caterina ; Musto, Francesca ; Crescitelli, Viola ; Iascone, Maria ; Spaccini, Luigina ; Tonduti, Davide ; Fedeli, Tiziana ; Kullmann, Gaia ; Canonico, Francesco ; Cattoni, Alessandro ; Dell’Acqua, Fabiola ; Rizzari, Carmelo ; Gasperini, Serena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-02, Vol.13 (3), p.442
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Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature
Author / Creator:Consales, Alessandra ; Ardemani, Giulia ; Cinnante, Claudia Maria ; Catalano, Mariana Rita ; Giavoli, Claudia ; Villa, Roberta ; Iascone, Maria ; Fontana, Camilla ; Bedeschi, Maria Francesca ; Fumagalli, Monica
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2022-03, Vol.22 (1), p.118-118, Article 118
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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile
Author / Creator:Ciolfi, Andrea ; Foroutan, Aidin ; Capuano, Alessandro ; Pedace, Lucia ; Travaglini, Lorena ; Pizzi, Simone ; Andreani, Marco ; Miele, Evelina ; Invernizzi, Federica ; Reale, Chiara ; Panteghini, Celeste ; Iascone, Maria ; Niceta, Marcello ; Gavrilova, Ralitza H. ; Schultz-Rogers, Laura ; Agolini, Emanuele ; Bedeschi, Maria Francesca ; Prontera, Paolo ; Garibaldi, Matteo ; Galosi, Serena ; Leuzzi, Vincenzo ; Soliveri, Paola ; Olson, Rory J. ; Zorzi, Giovanna S. ; Garavaglia, Barbara M. ; Tartaglia, Marco ; Sadikovic, Bekim
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2021-08, Vol.13 (1), p.157-157, Article 157
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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation
Author / Creator:Sana, Maria Elena ; Quilliam, Lawrence A. ; Spitaleri, Andrea ; Pezzoli, Laura ; Marchetti, Daniela ; Lodrini, Chiara ; Candiago, Elisabetta ; Lincesso, Anna Rita ; Ferrazzi, Paolo ; Iascone, Maria
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-12, Vol.11 (12), p.e0168501
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Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Author / Creator:Scelsa, Barbara ; Gasperini, Serena ; Righini, Andrea ; Iascone, Maria ; Brazzoduro, Valeria G. ; Veggiotti, Pierangelo
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e657-n/a
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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
Author / Creator:Pezzoli, Laura ; Pezzani, Lidia ; Bonanomi, Ezio ; Marrone, Chiara ; Scatigno, Agnese ; Cereda, Anna ; Bedeschi, Maria Francesca ; Selicorni, Angelo ; Gasperini, Serena ; Bini, Paolo ; Maitz, Silvia ; Maccioni, Carla ; Pedron, Cristina ; Colombo, Lorenzo ; Marchetti, Daniela ; Bellini, Matteo ; Lincesso, Anna Rita ; Perego, Loredana ; Pingue, Monica ; Della Malva, Nunzia ; Mangili, Giovanna ; Ferrazzi, Paolo ; Iascone, Maria
Publisher:Switzerland: MDPI AG
Journal title:Journal of cardiovascular development and disease, 2021-12, Vol.9 (1), p.2
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A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement
Author / Creator:Ruscitti, Federica ; Trevisan, Lucia ; Rosti, Giulia ; Gotta, Fabio ; Cianflone, Annalia ; Geroldi, Alessandro ; Origone, Paola ; Pichiecchio, Anna ; Viglio, Simona ; Iascone, Maria ; Mandich, Paola
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1753-n/a
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Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
Author / Creator:Mio, Catia ; Fogolari, Federico ; Pezzoli, Laura ; D’Elia, Angela V. ; Iascone, Maria ; Damante, Giuseppe
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-07, Vol.8 (7), p.e1278-n/a
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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Author / Creator:Beltrami, Benedetta ; Cerasani, Jacopo ; Consales, Alessandra ; Villa, Roberta ; Resta, Nicoletta ; Loconte, Daria Carmela ; Boito, Simona ; Caschera, Luca ; Bassi, Laura ; Colombo, Lorenzo ; Iascone, Maria ; Bedeschi, Maria Francesca
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2022-08, Vol.10 (8), p.e6256-n/a
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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Author / Creator:Grazioli, Paolo ; Parodi, Chiara ; Mariani, Milena ; Bottai, Daniele ; Di Fede, Elisabetta ; Zulueta, Aida ; Avagliano, Laura ; Cereda, Anna ; Tenconi, Romano ; Wierzba, Jolanta ; Adami, Raffaella ; Iascone, Maria ; Ajmone, Paola Francesca ; Vaccari, Thomas ; Gervasini, Cristina ; Selicorni, Angelo ; Massa, Valentina
Publisher:London: Nature Publishing Group UK
Journal title:Cell death discovery, 2021-02, Vol.7 (1), p.34-34, Article 34
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Rare presentation and wide intrafamilial variability of Fabry disease: case report and review of the literature
Author / Creator:Jurcut, Ruxandra
Publisher:Turkey: Kare Publishing
Journal title:Anatolian journal of cardiology, 2019-09, Vol.22 (3), p.154-158
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A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis
Author / Creator:Spinelli, Valentina ; Girolami, Francesca ; Marrone, Chiara ; Consigli, Veronica ; Iascone, Maria ; Passantino, Silvia ; Porcedda, Giulio ; Calabri, Giovanni Battista ; De Simone, Luciano ; Olivotto, Iacopo ; Santoro, Giuseppe ; Favilli, Silvia
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2020-12, Vol.8 (12), p.3369-3373
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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Author / Creator:Pezzani, Lidia ; Pezzoli, Laura ; Pansa, Alessandra ; Facchinetti, Barbara ; Marchetti, Daniela ; Scatigno, Agnese ; Lincesso, Anna R. ; Perego, Loredana ; Pingue, Monica ; Pellicioli, Isabella ; Migliazza, Lucia ; Mangili, Giovanna ; Galletti, Lorenzo ; Giussani, Ursula ; Bonanomi, Ezio ; Cereda, Anna ; Iascone, Maria
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1064-n/a
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Atypical Clinical Presentation and Successful Treatment With Oral Cholic Acid of a Child with Defective Bile Acid Synthesis due to a Novel Mutation in the HSD3B7 Gene
Author / Creator:Bossi, Grazia ; Giordano, Giuseppe ; Rispoli, Gaetana Anna ; Maggiore, Giuseppe ; Naturale, Mauro ; Marchetti, Daniela ; Iascone, Maria
Publisher:Italy: MDPI AG
Journal title:Pediatric reports, 2017-10, Vol.9 (3), p.7266-7266
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Showing 1 to 20 of 57 results

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Spinal cord involvement and paroxysmal events in “Infantile Onset Transient Hypomyelination” due to TMEM63A mutation

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ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype

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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

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P2X7R mutation disrupts the NLRP3-mediated Th program and predicts poor cardiac allograft outcomes

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Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome

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Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

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Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child

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Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature

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Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

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Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature

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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

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A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

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Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome

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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

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Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

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Rare presentation and wide intrafamilial variability of Fabry disease: case report and review of the literature

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A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

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Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

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Atypical Clinical Presentation and Successful Treatment With Oral Cholic Acid of a Child with Defective Bile Acid Synthesis due to a Novel Mutation in the HSD3B7 Gene

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