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Hypoglycaemia Metabolic Gene Panel Testing
Maiorana, Arianna, Lepri, Francesca Romana, Novelli, Antonio, Dionisi-Vici, Carlo
Published in Frontiers in endocrinology (Lausanne) (29.03.2022)
Published in Frontiers in endocrinology (Lausanne) (29.03.2022)
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Journal Article
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
Siri, Barbara, Olivieri, Giorgia, Lepri, Francesca Romana, Poms, Martin, Goffredo, Bianca Maria, Commone, Anna, Novelli, Antonio, Häberle, Johannes, Dionisi-Vici, Carlo
Published in Orphanet journal of rare diseases (02.01.2024)
Published in Orphanet journal of rare diseases (02.01.2024)
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Journal Article
Kabuki syndrome: clinical and molecular diagnosis in the first year of life
Dentici, Maria Lisa, Di Pede, Alessandra, Lepri, Francesca Romana, Gnazzo, Maria, Lombardi, Mary Haywood, Auriti, Cinzia, Petrocchi, Stefano, Pisaneschi, Elisa, Bellacchio, Emanuele, Capolino, Rossella, Braguglia, Annabella, Angioni, Adriano, Dotta, Andrea, Digilio, Maria Cristina, Dallapiccola, Bruno
Published in Archives of disease in childhood (01.02.2015)
Published in Archives of disease in childhood (01.02.2015)
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Journal Article
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
Ventresca, Silvia, Lepri, Francesca Romana, Criscuolo, Sabrina, Bottaro, Giorgia, Novelli, Antonio, Loche, Sandro, Cappa, Marco
Published in Frontiers in endocrinology (Lausanne) (26.03.2024)
Published in Frontiers in endocrinology (Lausanne) (26.03.2024)
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Journal Article
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
Pennisi, Alessandra, Maranda, Bruno, Benoist, Jean‐François, Baudouin, Véronique, Rigal, Odile, Pichard, Samia, Santer, René, Romana Lepri, Francesca, Novelli, Antonio, Ogier de Baulny, Hélène, Dionisi‐Vici, Carlo, Schiff, Manuel
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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Journal Article
Congenital heart defects in Noonan syndrome and RIT1 mutation
Calcagni, Giulio, Baban, Anwar, Lepri, Francesca Romana, Marino, Bruno, Tartaglia, Marco, Digilio, Maria Cristina
Published in Genetics in medicine (01.12.2016)
Published in Genetics in medicine (01.12.2016)
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Journal Article
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review
Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco
Published in BMC pediatrics (12.03.2020)
Published in BMC pediatrics (12.03.2020)
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Journal Article
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in DUOX2
Finocchi, Andrea, Pacillo, Lucia, Chiriaco, Maria, Di Matteo, Gigliola, Francalanci, Paola, Angelino, Giulia, Caldaro, Tamara, Rivalta, Beatrice, O’Mara, Maurice, Zhang, Suisheng, Lepri, Francesca Romana, Novelli, Antonio, De Angelis, Paola, Knaus, Ulla G., Rea, Francesca
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Journal Article
Deep Intronic LINE-1 Insertions in NF1: Expanding the Spectrum of Neurofibromatosis Type 1-Associated Rearrangements
Alesi, Viola, Genovese, Silvia, Lepri, Francesca Romana, Catino, Giorgia, Loddo, Sara, Orlando, Valeria, Di Tommaso, Silvia, Morgia, Alessandra, Martucci, Licia, Di Donato, Maddalena, Digilio, Maria Cristina, Dallapiccola, Bruno, Novelli, Antonio, Capolino, Rossella
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
Published in Biomolecules (Basel, Switzerland) (23.04.2023)
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Journal Article
Neurobehavioral features in individuals with Kabuki syndrome
Caciolo, Cristina, Alfieri, Paolo, Piccini, Giorgia, Digilio, Maria Cristina, Lepri, Francesca Romana, Tartaglia, Marco, Menghini, Deny, Vicari, Stefano
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis
Tummolo, Albina, Leone, Piero, Tolomeo, Maria, Solito, Rita, Mattiuzzo, Matteo, Lepri, Francesca Romana, Lorè, Tania, Cardinali, Roberta, De Giovanni, Donatella, Simonetti, Simonetta, Barile, Maria
Published in JIMD reports (01.07.2022)
Published in JIMD reports (01.07.2022)
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Journal Article
A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report
Artesani, Maria Cristina, Santarsiero, Sara, Sitzia, Emanuela, Lepri, Francesca Romana, Magliozzi, Monia, Majo, Fabio, Ullmann, Nicola, Stracuzzi, Alessandra, Novelli, Antonio, Cristalli, Giovanni, Fiocchi, Alessandro
Published in Frontiers in pediatrics (30.05.2024)
Published in Frontiers in pediatrics (30.05.2024)
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Journal Article
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature
Lodi, Mariachiara, Boccuto, Luigi, Carai, Andrea, Cacchione, Antonella, Miele, Evelina, Colafati, Giovanna Stefania, Diomedi Camassei, Francesca, De Palma, Luca, De Benedictis, Alessandro, Ferretti, Elisabetta, Catanzaro, Giuseppina, Pò, Agnese, De Luca, Alessandro, Rinelli, Martina, Lepri, Francesca Romana, Agolini, Emanuele, Tartaglia, Marco, Locatelli, Franco, Mastronuzzi, Angela
Published in Diagnostics (Basel) (12.08.2020)
Published in Diagnostics (Basel) (12.08.2020)
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Journal Article
The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature
Pepi, Chiara, de Palma, Luca, Trivisano, Marina, Pietrafusa, Nicola, Lepri, Francesca Romana, Diociaiuti, Andrea, Camassei, Francesca Diomedi, Carfi-Pavia, Giusy, De Benedictis, Alessandro, Rossi-Espagnet, Camilla, Vigevano, Federico, Marras, Carlo Efisio, Novelli, Antonio, Bluemcke, Ingmar, Specchio, Nicola
Published in Brain sciences (16.06.2021)
Published in Brain sciences (16.06.2021)
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Journal Article
Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine
Šikić, Katarina, Peters, Tessa M. A., Engelke, Udo, Petković Ramadža, Danijela, Žigman, Tamara, Fumić, Ksenija, Davidović, Maša, Huljev Frković, Sanda, Körmendy, Tibor, Martinelli, Diego, Novelli, Antonio, Lepri, Francesca Romana, Wevers, Ron A., Barić, Ivo
Published in JIMD reports (01.11.2024)
Published in JIMD reports (01.11.2024)
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Journal Article
Atrioventricular canal defect in patients with RASopathies
Digilio, Maria Cristina, Romana Lepri, Francesca, Lisa Dentici, Maria, Henderson, Alex, Baban, Anwar, Cristina Roberti, Maria, Capolino, Rossella, Versacci, Paolo, Surace, Cecilia, Angioni, Adriano, Tartaglia, Marco, Marino, Bruno, Dallapiccola, Bruno
Published in European journal of human genetics : EJHG (01.02.2013)
Published in European journal of human genetics : EJHG (01.02.2013)
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Journal Article
Neurobehavioral features in individuals with K abuki syndrome
Caciolo, Cristina, Alfieri, Paolo, Piccini, Giorgia, Digilio, Maria Cristina, Lepri, Francesca Romana, Tartaglia, Marco, Menghini, Deny, Vicari, Stefano
Published in Molecular genetics & genomic medicine (01.05.2018)
Published in Molecular genetics & genomic medicine (01.05.2018)
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Journal Article
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Lepri, Francesca Romana, Scavelli, Rossana, Digilio, Maria Cristina, Gnazzo, Maria, Grotta, Simona, Dentici, Maria Lisa, Pisaneschi, Elisa, Sirleto, Pietro, Capolino, Rossella, Baban, Anwar, Russo, Serena, Franchin, Tiziana, Angioni, Adriano, Dallapiccola, Bruno
Published in BMC medical genetics (23.01.2014)
Published in BMC medical genetics (23.01.2014)
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Journal Article
Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect
Olivieri, Giorgia, Greco, Benedetta, Cairoli, Sara, Catesini, Giulio, Lepri, Francesca Romana, Orazi, Lorenzo, Mallardi, Maria, Martinelli, Diego, Ricci, Daniela, Simeoli, Raffaele, Dionisi‐Vici, Carlo
Published in Journal of inherited metabolic disease (01.01.2025)
Published in Journal of inherited metabolic disease (01.01.2025)
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Journal Article