Search Results - "Tedesco, Marta"

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status by Leoni, Chiara, Romeo, Domenico Marco, Pelliccioni, Michele, Di Già, Mariangela, Onesimo, Roberta, Giorgio, Valentina, Flex, Elisabetta, Tedesco, Marta, Tartaglia, Marco, Rigante, Donato, Valassina, Antonio, Zampino, Giuseppe

“…Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFCS) belong to the RASopathies, a group of neurodevelopmental disorders with skeletal anomalies…”
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Cord blood presepsin as a predictor of early-onset neonatal sepsis in term and preterm newborns by Priolo, Francesca, Maggio, Luca, Fattore, Simona, Tedesco, Marta, De Rose, Domenico Umberto, Perri, Alessandro, Prontera, Giorgia, Chioma, Roberto, Sbordone, Annamaria, Patti, Maria Letizia, Vento, Giovanni

“…To date, no studies on presepsin values in cord blood of term infants with risk factors for early-onset sepsis (EOS) are available, whereas only one study…”
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Enlarged spinal nerve roots in RASopathies: Report of two cases by Leoni, Chiara, Tedesco, Marta, Talloa, Dario, Verdolotti, Tommaso, Onesimo, Roberta, Colosimo, Cesare, Flex, Elisabetta, De Luca, Alessandro, Tartaglia, Marco, Rigante, Donato, Zampino, Giuseppe

“…RASopathies are a group of genetic conditions caused by germline variants in genes encoding signal transducers and modulators of the RAS-MAPK cascade. These…”
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Post-partum thyroid disease: differential diagnosis and management by Cipolla, Clelia, Tedesco, Marta

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Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome by Leoni, Chiara, Tedesco, Marta, Onesimo, Roberta, Giorgio, Valentina, Rigante, Donato, Zampino, Giuseppe

“…•Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of the RASopathies, a cluster of development disorders caused by germline mutations in genes…”
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Characterization of bone homeostasis in individuals affected by cardio‐facio‐cutaneous syndrome by Leoni, Chiara, Viscogliosi, Germana, Onesimo, Roberta, Bisanti, Cristian, Massese, Miriam, Giorgio, Valentina, Corbo, Fabio, Tedesco, Marta, Acampora, Anna, Cipolla, Clelia, Dell'Atti, Claudia, Flex, Elisabetta, Gervasoni, Jacopo, Primiano, Aniello, Rigante, Donato, Tartaglia, Marco, Zampino, Giuseppe

“…Cardio‐facio‐cutaneous syndrome (CFCS) is a rare disorder characterized by distinctive craniofacial appearance, cardiac, neurologic, cutaneous, and…”
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Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making by Leoni, Chiara, Paradiso, Filomena Valentina, Foschi, Nazario, Tedesco, Marta, Pierconti, Francesco, Silvaroli, Sara, Diego, Mario Di, Birritella, Lisa, Pantaleoni, Francesca, Rendeli, Claudia, Onesimo, Roberta, Viscogliosi, Germana, Bassi, Pierfrancesco, Nanni, Lorenzo, Genuardi, Maurizio, Tartaglia, Marco, Zampino, Giuseppe

“…Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS…”
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Broadening the phenotypic spectrum of Beta3GalT6‐associated phenotypes by Leoni, Chiara, Tedesco, Marta, Radio, Francesca Clementina, Chillemi, Giovanni, Leone, Antonio, Bruselles, Alessandro, Ciolfi, Andrea, Stellacci, Emilia, Pantaleoni, Francesca, Butera, Gianfranco, Rigante, Donato, Onesimo, Roberta, Tartaglia, Marco, Zampino, Giuseppe

“…Biallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various…”
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Rooming-In Practice During the Pandemic: Results From a Retrospective Cohort Study by Costa, Simonetta, Priolo, Francesca, Fattore, Simona, Tedesco, Marta, Rubortone, Serena Antonia, Giordano, Lucia, Chioma, Roberto, Neri MD, Caterina, Lanzone, Antonio, Buonsenso, Danilo, Valentini, Piero, Vento, Giovanni

“…Background: The Coronavirus disease 2019 (COVID-19) pandemic emerged in December 2019 and spread rapidly worldwide. So far, evidence regarding the…”
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Immunoglobulin deficiency associated with a MAP2K1-related mutation causing cardio-facio-cutaneous syndrome by Leoni, Chiara, Tedesco, Marta, Onesimo, Roberta, Giorgio, Valentina, Rigante, Donato, Zampino, Giuseppe

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Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes by Leoni, Chiara, Tedesco, Marta, Radio, Francesca Clementina, Chillemi, Giovanni, Leone, Antonio, Bruselles, Alessandro, Ciolfi, Andrea, Stellacci, Emilia, Pantaleoni, Francesca, Butera, Gianfranco, Rigante, Donato, Onesimo, Roberta, Tartaglia, Marco, Zampino, Giuseppe

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