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ArticlesPeer ReviewedFull Text
Tomographic flow cytometry by digital holography
Author / Creator:Merola, Francesco ; Memmolo, Pasquale ; Miccio, Lisa ; Savoia, Roberto ; Mugnano, Martina ; Fontana, Angelo ; D'Ippolito, Giuliana ; Sardo, Angela ; Iolascon, Achille ; Gambale, Antonella ; Ferraro, Pietro
Publisher:London: Nature Publishing Group UK
Journal title:Light, science & applications, 2017-04, Vol.6 (4), p.e16241-e16241
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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients
Author / Creator:Andolfo, Immacolata ; Martone, Stefania ; Rosato, Barbara Eleni ; Marra, Roberta ; Gambale, Antonella ; Forni, Gian Luca ; Pinto, Valeria ; Göransson, Magnus ; Papadopoulou, Vasiliki ; Gavillet, Mathilde ; Elalfy, Mohsen ; Panarelli, Antonella ; Tomaiuolo, Giovanna ; Iolascon, Achille ; Russo, Roberta
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-06, Vol.12 (7), p.958
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Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect
Author / Creator:De Falco, Alessandro ; Gambale, Antonella ; Pinelli, Michele ; Suero, Teresa ; De Falco, Luigia ; Iolascon, Achille ; Martone, Stefania
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2024-06, Vol.13 (13), p.1078
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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism
Author / Creator:Errichiello, Edoardo ; Giorda, Roberto ; Gambale, Antonella ; Iolascon, Achille ; Zuffardi, Orsetta ; Giglio, Sabrina
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1561-n/a
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Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia
Author / Creator:Fawaz, Naglaa ; Beshlawi, Ismail ; Alqasim, Alauldeen ; Zachariah, Mathew ; Russo, Roberta ; Andolfo, Immacolata ; Gambale, Antonella ; Pathare, Anil ; Iolascon, Achille
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2022-02, Vol.10 (2), p.e05315-n/a
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Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis
Author / Creator:Fioretti, Tiziana ; Martora, Fabrizio ; De Maggio, Ilaria ; Ambrosio, Adelaide ; Piscopo, Carmelo ; Vallone, Sabrina ; Amato, Felice ; Passaro, Diego ; Acquaviva, Fabio ; Gaudiello, Francesca ; Di Girolamo, Daniela ; Maiolo, Valeria ; Zarrilli, Federica ; Esposito, Speranza ; Vitiello, Giuseppina ; Auricchio, Luigi ; Sammarco, Elena ; Brasi, Daniele De ; Petillo, Roberta ; Gambale, Antonella ; Cattaneo, Fabio ; Ammendola, Rosario ; Nappa, Paola ; Esposito, Gabriella
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-05, Vol.12 (5), p.1112
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MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness
Author / Creator:Capasso, Mario ; Ayala, Fabrizio ; Avvisati, Rosa Anna ; Russo, Roberta ; Gambale, Antonella ; Mozzillo, Nicola ; Ascierto, Paolo Antonio ; Iolascon, Achille
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2010-08, Vol.55 (8), p.518-524
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The Efficacy of Mitapivat in Case of Transfusion Dependence Linked to Beta Thalassemia Trait Associated with Pyruvate Kinase Deficiency
Author / Creator:Fatigati, Carmina ; Costantini, Silvia ; Spasiano, Anna ; Ziello, Brunella ; Gambale, Antonella ; Ricchi, Paolo
Publisher:England: John Wiley & Sons, Inc
Journal title:Journal of cellular and molecular medicine, 2024-11, Vol.28 (22), p.e70217-n/a
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DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review
Author / Creator:Spinelli, Claudio ; Ghionzoli, Marco ; Sahli, Linda Idrissi ; Guglielmo, Carla ; Frascella, Silvia ; Romano, Silvia ; Ferrari, Carlo ; Gennari, Fabrizio ; Conzo, Giovanni ; Morganti, Riccardo ; De Napoli, Luigi ; Quaglietta, Lucia ; De Martino, Lucia ; Picariello, Stefania ; Grandone, Anna ; Luongo, Caterina ; Gambale, Antonella ; Patrizio, Armando ; Fallahi, Poupak ; Antonelli, Alessandro ; Ferrari, Silvia Martina
Publisher:Switzerland: MDPI AG
Journal title:Cancers, 2023-07, Vol.15 (14), p.3681
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ArticlesPeer ReviewedFull Text
M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA
Author / Creator:Barone, Annarita ; Iasevoli, Felice ; Matrone, Marta ; Filomena Buonaguro, Elisabetta ; Falco, Mariateresa ; Genesio, Rita ; Pignataro, Piero ; Capasso, Mario ; Gambale, Antonella ; Avagliano, Camilla ; Razzino, Eugenio ; Notar Francesco, Danilo ; Ciccarelli, Mariateresa ; Vitiello, Giuseppina ; Andolfo, Immacolata ; Nitsch, Lucio ; Iolascon, Achille ; de Bartolomeis, Andrea
Publisher:US: Oxford University Press
Journal title:Schizophrenia bulletin, 2020-05, Vol.46 (Supplement_1), p.S201-S201
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Tomographic flow cytometry by digital holography

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Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

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Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect

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RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

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Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

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Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

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MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness

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The Efficacy of Mitapivat in Case of Transfusion Dependence Linked to Beta Thalassemia Trait Associated with Pyruvate Kinase Deficiency

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DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

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M170. GENETIC CHARACTERIZATION OF A COHORT OF PATIENTS AFFECTED BY SCHIZOPHRENIA. THE ROLE FOR RARE STRUCTURAL VARIANTS IN MODULATING TREATMENT RESISTANT ENDOPHENOTYPES: PRELIMINARY DATA

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