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Correction: Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.
Published in:
2024
By:
- De Martino, Lucia;
- Mirabelli, Peppino;
- Quaglietta, Lucia;
- Ferrara, Ursula Pia;
- Picariello, Stefania;
- De Gennaro, Domenico Vincenzo;
- Aiello, Marco;
- Smaldone, Giovanni;
- Aliberti, Ferdinando;
- Spennato, Pietro;
- De Brasi, Daniele;
- Covelli, Eugenio;
- Cinalli, Giuseppe
Publication type:
Correction Notice
Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.
Published in:
Child's Nervous System, 2024, v. 40, n. 11, p. 3693, doi. 10.1007/s00381-024-06555-w
By:
- De Martino, Lucia;
- Mirabelli, Peppino;
- Quaglietta, Lucia;
- Ferrara, Ursula Pia;
- Picariello, Stefania;
- De Gennaro, Domenico Vincenzo;
- Aiello, Marco;
- Smaldone, Giovanni;
- Aliberti, Ferdinando;
- Spennato, Pietro;
- De Brasi, Daniele;
- Covelli, Eugenio;
- Cinalli, Giuseppe
Publication type:
Article
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Published in:
Neurological Sciences, 2021, v. 42, n. 5, p. 2063, doi. 10.1007/s10072-020-04923-3
By:
- Bernardo, Pia;
- Budetta, Mauro;
- Aliberti, Ferdinando;
- Carpentieri, Maria Luisa;
- De Brasi, Daniele;
- Sorrentino, Livio;
- Russo, Carmela;
- D'amico, Alessandra;
- Cinalli, Giuseppe;
- Santoro, Claudia;
- Coppola, Antonietta
Publication type:
Article
Syphilitic hepatitis in infants, the forgotten disease that hepatologists have to brush up on: from a case series to a revision of literature.
Published in:
European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4939, doi. 10.1007/s00431-024-05698-x
By:
- Delle Cave, Valeria;
- Zito Marinosci, Geremia;
- Ferrara, Dolores;
- Esposito, Francesco;
- Lo Vecchio, Andrea;
- Sciveres, Marco;
- Mandato, Claudia;
- De Brasi, Daniele;
- Siani, Paolo;
- Ranucci, Giusy
Publication type:
Article
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Published in:
2022
By:
- Di Candia, Francesca;
- Fontana, Paolo;
- Paglia, Pamela;
- Falco, Mariateresa;
- Rosano, Carmen;
- Piscopo, Carmelo;
- Cappuccio, Gerarda;
- Siano, Maria Anna;
- De Brasi, Daniele;
- Mandato, Claudia;
- De Maggio, Ilaria;
- Squeo, Gabriella Maria;
- Monica, Matteo Della;
- Scarano, Gioacchino;
- Lonardo, Fortunato;
- Strisciuglio, Pietro;
- Merla, Giuseppe;
- Melis, Daniela
Publication type:
journal article
Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.
Published in:
Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0154-3
By:
- Genesio, Rita;
- Mormile, Angela;
- Licenziati, Maria Rosaria;
- De Brasi, Daniele;
- Leone, Graziella;
- Balzano, Sara;
- Izzo, Antonella;
- Bonfiglio, Ferdinando;
- Conti, Anna;
- Fioretti, Gennaro;
- Lenta, Selvaggia;
- Poggiano, Maria Rita;
- Siani, Paolo;
- Nitsch, Lucio
Publication type:
Article
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Published in:
Biomedicines, 2024, v. 12, n. 5, p. 1112, doi. 10.3390/biomedicines12051112
By:
- 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
Publication type:
Article
Prenatal diagnosis of Fraser syndrome: a matter of life or death?
Published in:
Italian Journal of Pediatrics, 2015, v. 14, p. 1, doi. 10.1186/s13052-015-0195-6
By:
- De Bernardo, Giuseppe;
- Giordano, Maurizio;
- Di Toro, Antonino;
- Sordino, Desiree;
- De Brasi, Daniele
Publication type:
Article
Scurvy in childhood: do not forget it.
Published in:
Minerva Pediatrics, 2022, v. 74, n. 3, p. 378, doi. 10.23736/S2724-5276.20.05586-3
By:
- SABBATINO, Maria Simona;
- DE SETA, Federica;
- DE BRASI, Daniele;
- SANTORO, Claudio;
- ESPOSITO, Francesco;
- SIANI, Paolo
Publication type:
Article
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
Published in:
Genes, 2023, v. 14, n. 1, p. 119, doi. 10.3390/genes14010119
By:
- De Falco, Alessandro;
- De Brasi, Daniele;
- Della Monica, Matteo;
- Cesario, Claudia;
- Petrocchi, Stefano;
- Novelli, Antonio;
- D'Alterio, Giuseppe;
- Iolascon, Achille;
- Capasso, Mario;
- Piscopo, Carmelo
Publication type:
Article
Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver–Russell Syndrome Spectrum.
Published in:
Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101875
By:
- Passaretti, Francesco;
- Pignata, Laura;
- Vitiello, Giuseppina;
- Alesi, Viola;
- D'Elia, Gemma;
- Cecere, Francesco;
- Acquaviva, Fabio;
- De Brasi, Daniele;
- Novelli, Antonio;
- Riccio, Andrea;
- Iolascon, Achille;
- Cerrato, Flavia
Publication type:
Article
Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.
Published in:
Genes, 2021, v. 12, n. 8, p. 1187, doi. 10.3390/genes12081187
By:
- De Brasi, Daniele;
- Orlando, Francesca;
- Gaeta, Valeria;
- De Liso, Maria;
- Acquaviva, Fabio;
- Martemucci, Luigi;
- Mastrominico, Augusto;
- Di Rocco, Maja
Publication type:
Article
Partial cerebellar hypoplasia in a patient with Prader-Willi syndrome.
Published in:
Acta Paediatrica, 2006, v. 95, n. 7, p. 861, doi. 10.1080/08035250500527307
By:
- Titomanlio, Luigi;
- De Brasi, Daniele;
- Romano, Alfonso;
- Genesio, Rita;
- Diano, Alvaro A.;
- del Giudice, Ennio
Publication type:
Article

Found: 13