Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome von Sangiorgi, Eugenio, Azzarà, Alessia, Molinario, Clelia, Pietrobono, Roberta, Rigante, Donato, Verrecchia, Elena, Sicignano, Ludovico Luca, Genuardi, Maurizio, Gurrieri, Fiorella, Manna, Raffaele

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Distinct neurological disorders with ATP1A3 mutations von 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

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families von Alessia Azzarà, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri

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Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families von Azzarà, Alessia, Cassano, Ilaria, Paccagnella, Elisa, Tirindelli, Maria Cristina, Nobile, Carolina, Schittone, Valentina, Lintas, Carla, Sacco, Roberto, Gurrieri, Fiorella

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Coding exons function as tissue-specific enhancers of nearby genes von 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

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Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa von Azzarà, Alessia, Cassano, Ilaria, Lintas, Carla, Gurrieri, Fiorella

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Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update von Gurrieri, Fiorella, Everman, David B.

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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) von 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

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Oral-facial-digital syndromes: Review and diagnostic guidelines von Gurrieri, Fiorella, Franco, Brunella, Toriello, Helga, Neri, Giovanni

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Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation von Tabolacci, Elisabetta, Pomponi, Maria Grazia, Remondini, Laura, Pietrobono, Roberta, Nobile, Veronica, Pennacchio, Gaetana, Gurrieri, Fiorella, Neri, Giovanni, Genuardi, Maurizio, Chiurazzi, Pietro

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Simultaneous presence of Brugada and overgrowth syndromes von Segreti, Andrea, Piccirillo, Francesco, Crispino, Simone Pasquale, Cocchia, Francesca, Martucciello, Arianna, Calabrese, Vito, Gurrieri, Fiorella, Grigioni, Francesco

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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer? von 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

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Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis von D’Ambrosio, Viola, Azzarà, Alessia, Sangiorgi, Eugenio, Gurrieri, Fiorella, Hess, Bernhard, Gambaro, Giovanni, Ferraro, Pietro Manuel

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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients von 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

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Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers von Marangi, Giuseppe, Garcovich, Simone, Sante, Gabriele Di, Orteschi, Daniela, Frangella, Silvia, Scaldaferri, Franco, Genuardi, Maurizio, Peris, Ketty, Gurrieri, Fiorella, Zollino, Marcella

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Genetic Characterization in Familial Rotator Cuff Tear: An Exome Sequencing Study von Azzarà, Alessia, Risi Ambrogioni, Laura, Cassano, Ilaria, Lintas, Carla, Longo, Umile Giuseppe, Denaro, Vincenzo, Gurrieri, Fiorella

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White matter and cerebellar involvement in alternating hemiplegia of childhood von Severino, Mariasavina, Pisciotta, Livia, Tortora, Domenico, Toselli, Benedetta, Stagnaro, Michela, Cordani, Ramona, Morana, Giovanni, Zicca, Anna, Kotzeva, Svetlana, Zanaboni, Clelia, Montobbio, Giovanni, Rossi, Andrea, De Grandis, Elisa

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Functional characterization of tissue-specific enhancers in the DLX5/6 locus von BIRNBAUM, Ramon Y, EVERMAN, David B, MURPHY, Karl K, GURRIERI, Fiorella, SCHWARTZ, Charles E, AHITUV, Nadav

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Emerging from the Darkness. Sudden Cardiac Death in Cardiac Amyloidosis von Cammalleri, Valeria, De Luca, Valeria Maria, Antonelli, Giorgio, Annibali, Ombretta, Nusca, Annunziata, Mega, Simona, Carpenito, Myriam, Ricciardi, Danilo, Gurrieri, Fiorella, Avvisati, Giuseppe, Ussia, Gian Paolo, Grigioni, Francesco

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Defective oxytocin function: a clue to understanding the cause of autism? von Gurrieri, Fiorella, Neri, Giovanni

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