Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
Sangiorgi, Eugenio, Azzarà, Alessia, Molinario, Clelia, Pietrobono, Roberta, Rigante, Donato, Verrecchia, Elena, Sicignano, Ludovico Luca, Genuardi, Maurizio, Gurrieri, Fiorella, Manna, Raffaele
Published in European journal of human genetics : EJHG (01.09.2019)
Published in European journal of human genetics : EJHG (01.09.2019)
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Journal Article
Distinct neurological disorders with ATP1A3 mutations
Heinzen, Erin L, Dr, Arzimanoglou, Alexis, MD, Brashear, Allison, Prof, Clapcote, Steven J, PhD, Gurrieri, Fiorella, Prof, Goldstein, David B, Prof, Jóhannesson, Sigurður H, Mikati, Mohamad A, Prof, Neville, Brian, Prof, Nicole, Sophie, PhD, Ozelius, Laurie J, PhD, Poulsen, Hanne, PhD, Schyns, Tsveta, PhD, Sweadner, Kathleen J, PhD, van den Maagdenberg, Arn, Prof, Vilsen, Bente, Prof
Published in Lancet neurology (01.05.2014)
Published in Lancet neurology (01.05.2014)
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Journal Article
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families
Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
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Journal Article
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families
Azzarà, Alessia, Cassano, Ilaria, Paccagnella, Elisa, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Lintas, Carla, Sacco, Roberto, Gurrieri, Fiorella
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
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Journal Article
Coding exons function as tissue-specific enhancers of nearby genes
Birnbaum, Ramon Y, Clowney, E Josephine, Agamy, Orly, Kim, Mee J, Zhao, Jingjing, Yamanaka, Takayuki, Pappalardo, Zachary, Clarke, Shoa L, Wenger, Aaron M, Nguyen, Loan, Gurrieri, Fiorella, Everman, David B, Schwartz, Charles E, Birk, Ohad S, Bejerano, Gill, Lomvardas, Stavros, Ahituv, Nadav
Published in Genome research (01.06.2012)
Published in Genome research (01.06.2012)
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Journal Article
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer
Lintas, Carla, Canalis, Benedetta, Azzarà, Alessia, Sabarese, Giovanna, Perrone, Giuseppe, Gurrieri, Fiorella
Published in Genes (26.04.2024)
Published in Genes (26.04.2024)
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Journal Article
Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update
Gurrieri, Fiorella, Everman, David B.
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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Journal Article
Clinical implications of the family history in patients with lung cancer: a systematic review of the literature and a new cross-sectional/prospective study design (FAHIC: lung)
Citarella, Fabrizio, Takada, Kazuki, Cascetta, Priscilla, Crucitti, Pierfilippo, Petti, Roberta, Vincenzi, Bruno, Tonini, Giuseppe, Venanzi, Francesco M, Bulotta, Alessandra, Oresti, Sara, Greco, Carlo, Ramella, Sara, Crinò, Lucio, Delmonte, Angelo, Ferrara, Roberto, Di Maio, Massimo, Gurrieri, Fiorella, Cortellini, Alessio
Published in Journal of translational medicine (31.07.2024)
Published in Journal of translational medicine (31.07.2024)
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Journal Article
Oral-facial-digital syndromes: Review and diagnostic guidelines
Gurrieri, Fiorella, Franco, Brunella, Toriello, Helga, Neri, Giovanni
Published in American journal of medical genetics. Part A (15.12.2007)
Published in American journal of medical genetics. Part A (15.12.2007)
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Journal Article
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Nobile, Veronica, Pennacchio, Gaetana, Gurrieri, Fiorella, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro
Published in European journal of human genetics : EJHG (01.05.2020)
Published in European journal of human genetics : EJHG (01.05.2020)
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Journal Article
Simultaneous presence of Brugada and overgrowth syndromes
Segreti, Andrea, Piccirillo, Francesco, Crispino, Simone Pasquale, Cocchia, Francesca, Martucciello, Arianna, Calabrese, Vito, Gurrieri, Fiorella, Grigioni, Francesco
Published in Monaldi archives for chest disease (27.04.2023)
Published in Monaldi archives for chest disease (27.04.2023)
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Journal Article
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo, Irene, Laino, Luigi, Azzarà, Alessia, Lintas, Carla, Cassano, Ilaria, Di Lazzaro, Vincenzo, Ursini, Francesca, Motolese, Francesco, Bargiacchi, Simone, Formicola, Daniela, Grammatico, Paola, Gurrieri, Fiorella
Published in Frontiers in neuroscience (05.01.2024)
Published in Frontiers in neuroscience (05.01.2024)
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Journal Article
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
Lintas, Carla, Facchiano, Angelo, Azzarà, Alessia, Cassano, Ilaria, Tabolacci, Claudio, Galasso, Cinzia, Gurrieri, Fiorella
Published in Genes (27.06.2023)
Published in Genes (27.06.2023)
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Journal Article
Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis
D’Ambrosio, Viola, Azzarà, Alessia, Sangiorgi, Eugenio, Gurrieri, Fiorella, Hess, Bernhard, Gambaro, Giovanni, Ferraro, Pietro Manuel
Published in Kidney & blood pressure research (01.08.2021)
Published in Kidney & blood pressure research (01.08.2021)
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Journal Article
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Pilato, Fabio, Capone, Fioravante, Di Lazzaro, Vincenzo, Gurrieri, Fiorella
Published in Genes (20.07.2023)
Published in Genes (20.07.2023)
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Journal Article
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients
Di Donato, Ilaria, Gallo, Antonio, Ricca, Ivana, Fini, Nicola, Silvestri, Gabriella, Gurrieri, Fiorella, Cirillo, Mario, Cerase, Alfonso, Natale, Gemma, Matrone, Federica, Riso, Vittorio, Melone, Mariarosa Anna Beatrice, Tessa, Alessandra, De Michele, Giovanna, Federico, Antonio, Filla, Alessandro, Dotti, Maria Teresa, Santorelli, Filippo Maria
Published in Neurological sciences (01.02.2022)
Published in Neurological sciences (01.02.2022)
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Journal Article
RADX Gene Variant May Predispose to Familial Asperger Syndrome
Azzarà, Alessia, Rumore, Roberto, Brugnoletti, Fulvia, Tabolacci, Elisabetta, Bottillo, Irene, Sangiorgi, Eugenio, Gurrieri, Fiorella
Published in Genes (23.01.2023)
Published in Genes (23.01.2023)
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Journal Article
Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders
Lintas, Carla, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Laino, Luigi, Grammatico, Paola, Gurrieri, Fiorella
Published in Genes (20.09.2022)
Published in Genes (20.09.2022)
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Journal Article
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations
Lintas, Carla, Bottillo, Irene, Sacco, Roberto, Azzarà, Alessia, Cassano, Ilaria, Ciccone, Maria Pia, Grammatico, Paola, Gurrieri, Fiorella
Published in Genes (01.12.2022)
Published in Genes (01.12.2022)
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