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The work experience of a patient affected by Williams Syndrome: a pilot project at the Bambino Gesù Children's Hospital.
Published in:
2017
By:
- De Lorenzo, Francesca;
- Macchiaiolo, Marina;
- Carlevaris, Carla Maria;
- Bartuli, Andrea
Publication type:
Case Study
Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009–10 season.
Published in:
2012
By:
- Romano, Mariateresa;
- Pandolfi, Elisabetta;
- Marino, Maria Giulia;
- Gesualdo, Francesco;
- Rizzo, Caterina;
- Carloni, Emanuela;
- Macchiaiolo, Marina;
- Tozzi, Alberto E.
Publication type:
Journal Article
Seasonal and pandemic influenza vaccine: recommendations to families of at-risk children during the 2009–10 season.
Published in:
European Journal of Public Health, 2012, v. 22, n. 6, p. 821, doi. 10.1093/eurpub/cks005
By:
- Romano, Mariateresa;
- Pandolfi, Elisabetta;
- Marino, Maria Giulia;
- Gesualdo, Francesco;
- Rizzo, Caterina;
- Carloni, Emanuela;
- Macchiaiolo, Marina;
- Tozzi, Alberto E.
Publication type:
Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
By:
- Macchiaiolo, Marina;
- Panfili, Filippo M.;
- Vecchio, Davide;
- Cortellessa, Fabiana;
- Gonfiantini, Michaela V.;
- Buonuomo, Paola S.;
- Pietrobattista, Andrea;
- Francalanci, Paola;
- Travaglini, Lorena;
- Bertini, Enrico S.;
- El Hachem, Maya;
- Bartuli, Andrea
Publication type:
Article
Langerhans cell histiocytosis in a young patient with Pitt–Hopkins syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2746, doi. 10.1002/ajmg.a.61840
By:
- Macchiaiolo, Marina;
- Panfili, Filippo Maria;
- Gonfiantini, Michaela Veronika;
- Mastrogiorgio, Gerarda;
- Buonuomo, Paola Sabrina;
- Gaspari, Stefania;
- Longo, Daniela;
- Zollino, Marcella;
- Bartuli, Andrea
Publication type:
Article
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1977, doi. 10.1002/ajmg.a.61719
By:
- Dentici, Maria L.;
- Maglione, Vittorio;
- Agolini, Emanuele;
- Catena, Gino;
- Capolino, Rossella;
- Lanari, Valentina;
- Novelli, Antonio;
- Sinibaldi, Lorenzo;
- Vecchio, Davide;
- Gonfiantini, Michaela V.;
- Macchiaiolo, Marina;
- Digilio, Maria C.;
- Dallapiccola, Bruno;
- Bartuli, Andrea
Publication type:
Article
Diffuse infantile hepatic hemangiomas in a patient with Beckwith–Wiedemann syndrome: A new association?
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 8, p. 1972, doi. 10.1002/ajmg.a.61718
By:
- Macchiaiolo, Marina;
- Markowich, Anna H.;
- Diociaiuti, Andrea;
- Gonfiantini, Michaela V.;
- Buonuomo, Paola S.;
- Rana, Ippolita;
- Monti, Lidia;
- El Hachem, May;
- Bartuli, Andrea
Publication type:
Article
Growth hormone excess in children with neurofibromatosis type-1 and optic glioma.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2353, doi. 10.1002/ajmg.a.38308
By:
- Cambiaso, Paola;
- Galassi, Stefania;
- Palmiero, Melania;
- Mastronuzzi, Angela;
- Del Bufalo, Francesca;
- Capolino, Rossella;
- Cacchione, Antonella;
- Buonuomo, Paola S.;
- Gonfiantini, Michaela V.;
- Bartuli, Andrea;
- Cappa, Marco;
- Macchiaiolo, Marina
Publication type:
Article
Nomenclature and definition in asymmetric regional body overgrowth.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1735, doi. 10.1002/ajmg.a.38266
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Article
Cover Image, Volume 173A, Number 7, July 2017.
Published in:
2017
By:
- Kalish, Jennifer M.;
- Biesecker, Leslie G.;
- Brioude, Frederic;
- Deardorff, Matthew A.;
- Di Cesare‐Merlone, Alessandra;
- Druley, Todd;
- Ferrero, Giovanni B.;
- Lapunzina, Pablo;
- Larizza, Lidia;
- Maas, Saskia;
- Macchiaiolo, Marina;
- Maher, Eamonn R.;
- Maitz, Silvia;
- Martinez‐Agosto, Julian A.;
- Mussa, Alessandro;
- Robinson, Peter;
- Russo, Silvia;
- Selicorni, Angelo;
- Hennekam, Raoul C.
Publication type:
Other
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1637, doi. 10.1002/ajmg.a.37041
By:
- Gonfiantini, Michaela Veronika;
- Armando, Marco;
- Pucciarini, Maria Laura;
- Macchiaiolo, Marina;
- Buonuomo, Paola Sabrina;
- Diociaiuti, Andrea;
- Lepri, Francesca Romana;
- Sirleto, Pietro;
- Vicari, Stefano;
- Bartuli, Andrea
Publication type:
Article
An 8-Month-Old Infant with Persistent Stridor.
Published in:
2016
By:
- Buonuomo, Paola Sabrina;
- Macchiaiolo, Marina;
- Bottero, Sergio;
- Secinaro, Aurelio;
- Mastrogiorgio, Gerarda;
- Scalzone, Maria;
- Rana, Ippolita;
- Tomà, Paolo;
- Bartuli, Andrea
Publication type:
journal article
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4078, doi. 10.3390/jcm11144078
By:
- Alfieri, Paolo;
- Macchiaiolo, Marina;
- Collotta, Martina;
- Montanaro, Federica Alice Maria;
- Caciolo, Cristina;
- Cumbo, Francesca;
- Galassi, Paolo;
- Panfili, Filippo Maria;
- Cortellessa, Fabiana;
- Zollino, Marcella;
- Accadia, Maria;
- Seri, Marco;
- Tartaglia, Marco;
- Bartuli, Andrea;
- Mammì, Corrado;
- Vicari, Stefano;
- Priolo, Manuela
Publication type:
Article
Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion.
Published in:
Brain Sciences (2076-3425), 2020, v. 10, n. 7, p. 451, doi. 10.3390/brainsci10070451
By:
- Lo Bianco, Manuela;
- Vecchio, Davide;
- Timpanaro, Tiziana A.;
- Arena, Alessia;
- Macchiaiolo, Marina;
- Bartuli, Andrea;
- Sciuto, Laura;
- Presti, Santiago;
- Sciuto, Sarah;
- Sapuppo, Annamaria;
- Fiumara, Agata;
- Marino, Lidia;
- Messina, Giulia;
- Pavone, Piero
Publication type:
Article
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
Published in:
Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773
By:
- Luca, Maria;
- Carli, Diana;
- Cardaropoli, Simona;
- Milani, Donatella;
- Cocchi, Guido;
- Leoni, Chiara;
- Macchiaiolo, Marina;
- Bartuli, Andrea;
- Tarani, Luigi;
- Melis, Daniela;
- Bontempo, Piera;
- D'Elia, Gemma;
- Prada, Elisabetta;
- Vitale, Raffaele;
- Grammegna, Angelina;
- Tannorella, Pierpaola;
- Sparago, Angela;
- Pignata, Laura;
- Riccio, Andrea;
- Russo, Silvia
Publication type:
Article
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Published in:
2022
By:
- Macchiaiolo, Marina;
- Panfili, Filippo M.;
- Vecchio, Davide;
- Gonfiantini, Michaela V.;
- Cortellessa, Fabiana;
- Caciolo, Cristina;
- Zollino, Marcella;
- Accadia, Maria;
- Seri, Marco;
- Chinali, Marcello;
- Mammì, Corrado;
- Tartaglia, Marco;
- Bartuli, Andrea;
- Alfieri, Paolo;
- Priolo, Manuela
Publication type:
journal article
Dysregulated miRNAs in bone cells of patients with Gorham‐Stout disease.
Published in:
FASEB Journal, 2021, v. 35, n. 3, p. 1, doi. 10.1096/fj.202001904RR
By:
- Rossi, Michela;
- Rana, Ippolita;
- Buonuomo, Paola Sabrina;
- Battafarano, Giulia;
- Mariani, Eda;
- D’Agostini, Matteo;
- Porzio, Ottavia;
- De Martino, Viviana;
- Minisola, Salvatore;
- Macchiaiolo, Marina;
- De Vito, Rita;
- Vecchio, Davide;
- Gonfiantini, Michaela Veronika;
- Jenkner, Alessandro;
- Bartuli, Andrea;
- Del Fattore, Andrea
Publication type:
Article
New Insights into the Role of Lipoprotein(a) as Predictor of Early Onset of Cardiovascular Disease in Pediatric Familial Hypercholesterolemia (FH).
Published in:
2020
By:
- Buonuomo, Paola Sabrina;
- Mastrogiorgio, Gerarda;
- Carletti, Michaela;
- Rana, Ippolita;
- Macchiaiolo, Marina;
- Gonfiantini, Michaela Veronika;
- Vecchio, Davide;
- Porzio, Ottavia;
- Bartuli, Andrea
Publication type:
Letter
Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience.
Published in:
European Journal of Preventive Cardiology, 2018, v. 25, n. 10, p. 1098, doi. 10.1177/2047487318776836
By:
- Buonuomo, Paola S;
- Macchiaiolo, Marina;
- Leone, Giovanna;
- Valente, Paola;
- Mastrogiorgio, Gerarda;
- Gnazzo, Maria;
- Rana, Ippolita;
- Gonfiantini, Michaela V;
- Gagliardi, Maria G;
- Romano, Francesca;
- Bartuli, Andrea
Publication type:
Article
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Published in:
Clinical Genetics, 2023, v. 104, n. 5, p. 528, doi. 10.1111/cge.14404
By:
- Sinibaldi, Lorenzo;
- Garone, Giacomo;
- Mandarino, Alessandra;
- Iarossi, Giancarlo;
- Chioma, Laura;
- Dentici, Maria Lisa;
- Merla, Giuseppe;
- Agolini, Emanuele;
- Micalizzi, Alessia;
- Mancini, Cecilia;
- Niceta, Marcello;
- Macchiaiolo, Marina;
- Diodato, Daria;
- Onesimo, Roberta;
- Blandino, Rita;
- Delogu, Angelica Bibiana;
- De Rosa, Gabriella;
- Trevisan, Valentina;
- Iademarco, Mariella;
- Zampino, Giuseppe
Publication type:
Article
Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques.
Published in:
Clinical Genetics, 2022, v. 102, n. 4, p. 314, doi. 10.1111/cge.14193
By:
- Carli, Diana;
- Operti, Matteo;
- Russo, Silvia;
- Cocchi, Guido;
- Milani, Donatella;
- Leoni, Chiara;
- Prada, Elisabetta;
- Melis, Daniela;
- Falco, Mariateresa;
- Spina, Jennifer;
- Uliana, Vera;
- Sara, Osimani;
- Sirchia, Fabio;
- Tarani, Luigi;
- Macchiaiolo, Marina;
- Cerrato, Flavia;
- Sparago, Angela;
- Pignata, Laura;
- Tannorella, Pierpaola;
- Cardaropoli, Simona
Publication type:
Article
Expanding the novel MAPKAPK5–related developmental disorder's genotype–phenotype correlation: Patient report and 19 months of follow‐up.
Published in:
Clinical Genetics, 2022, v. 102, n. 2, p. 142, doi. 10.1111/cge.14150
By:
- Vecchio, Davide;
- Cocciadiferro, Dario;
- Macchiaiolo, Marina;
- Gonfiantini, Michaela Veronika;
- Agolini, Emanuele;
- Matraxia, Marta;
- Carboni, Alessia;
- Coretti, Antonella;
- Villani, Andrea;
- Panfili, Filippo Maria;
- Dentici, Maria Lisa;
- Buonuomo, Paola Sabrina;
- Rana, Ippolita;
- Colafati, Giovanna Stefania;
- Digilio, Maria Cristina;
- Novelli, Antonio;
- Bartuli, Andrea
Publication type:
Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement.
Published in:
Clinical Genetics, 2019, v. 95, n. 4, p. 462, doi. 10.1111/cge.13506
By:
- Zollino, Marcella;
- Marangi, Giuseppe;
- Giurgea, Irina;
- Whalen, Sandra;
- Macchiaiolo, Marina;
- Smigiel, Robert;
- Thibert, Ronald L.;
- Benoist, Ingrid;
- Clayton‐Smith, Jill;
- De Winter, Channa F.;
- Deckers, Stijn;
- Huisman, Sylvia;
- Kruisinga, Frea;
- Menke, Leonie;
- Hennekam, Raoul C.;
- Kempink, Dagmar;
- Lamacchia, Vittoria;
- Renieri, Alessandra;
- Nordgren, Ann;
- Routledge, Sue
Publication type:
Article
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Published in:
2021
By:
- Mastrogiorgio, Gerarda;
- Macchiaiolo, Marina;
- Buonuomo, Paola Sabrina;
- Bellacchio, Emanuele;
- Bordi, Matteo;
- Vecchio, Davide;
- Brown, Kari Payne;
- Watson, Natalie Karen;
- Contardi, Benedetta;
- Cecconi, Francesco;
- Tartaglia, Marco;
- Bartuli, Andrea
Publication type:
journal article
Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 6, p. 1005, doi. 10.3390/diagnostics11061005
By:
- Lodi, Mariachiara;
- Marrazzo, Antonio;
- Cacchione, Antonella;
- Macchiaiolo, Marina;
- Romanzo, Antonino;
- Mastronardi, Luciano;
- Diomedi-Camassei, Francesca;
- Carboni, Alessia;
- Carai, Andrea;
- Gandolfo, Carlo;
- Monti, Lidia;
- Mastronuzzi, Angela;
- Colafati, Giovanna Stefania
Publication type:
Article
Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1.
Published in:
Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 218, doi. 10.3390/diagnostics11020218
By:
- Cacchione, Antonella;
- Carboni, Alessia;
- Lodi, Mariachiara;
- Vito, Rita De;
- Carai, Andrea;
- Marrazzo, Antonio;
- Macchiaiolo, Marina;
- Voicu, Ioan Paul;
- Mastronuzzi, Angela;
- Colafati, Giovanna Stefania;
- Kjaer, Andreas
Publication type:
Article
SHH medulloblastoma and very early onset of bowel polyps in a child with PTEN hamartoma tumor syndrome.
Published in:
Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1228389
By:
- Maria Caroleo, Anna;
- Rotulo, Silvia;
- Agolini, Emanuele;
- Macchiaiolo, Marina;
- Boccuto, Luigi;
- Antonelli, Manila;
- Colafati, Giovanna Stefania;
- Cacchione, Antonella;
- Megaro, Giacomina;
- Carai, Andrea;
- De Ioris, Maria Antonietta;
- Lodi, Mariachiara;
- Tornesello, Assunta;
- Simone, Valeria;
- Torroni, Filippo;
- Cinalli, Giuseppe;
- Mastronuzzi, Angela
Publication type:
Article
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
Published in:
Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0383-7
By:
- Macchiaiolo, Marina;
- Barresi, Sabina;
- Cecconi, Francesco;
- Zanni, Ginevra;
- Niceta, Marcello;
- Bellacchio, Emanuele;
- Lazzarino, Giacomo;
- Amorini, Angela Maria;
- Bertini, Enrico Silvio;
- Rizza, Salvatore;
- Contardi, Benedetta;
- Tartaglia, Marco;
- Bartuli, Andrea
Publication type:
Article
Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1307934
By:
- Cocciadiferro, Dario;
- Mazza, Tommaso;
- Vecchio, Davide;
- Biagini, Tommaso;
- Petrizzelli, Francesco;
- Agolini, Emanuele;
- Villani, Andrea;
- Minervino, Daniele;
- Martinelli, Diego;
- Rizzo, Cristiano;
- Boenzi, Sara;
- Panfili, Filippo Maria;
- Buonuomo, Paola Sabrina;
- Macchiaiolo, Marina;
- Bartuli, Andrea;
- Novelli, Antonio
Publication type:
Article
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Published in:
Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
By:
- Sartorelli, Jacopo;
- Travaglini, Lorena;
- Macchiaiolo, Marina;
- Garone, Giacomo;
- Gonfiantini, Michaela Veronika;
- Vecchio, Davide;
- Sinibaldi, Lorenzo;
- Frascarelli, Flaminia;
- Ceccatelli, Viola;
- Petrillo, Sara;
- Piemonte, Fiorella;
- Piccolo, Gabriele;
- Novelli, Antonio;
- Longo, Daniela;
- Pro, Stefano;
- D'Amico, Adele;
- Bertini, Enrico Silvio;
- Nicita, Francesco
Publication type:
Article
Two Italian Patients with ELOVL4 -Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.
Published in:
Genes, 2021, v. 12, n. 3, p. 343, doi. 10.3390/genes12030343
By:
- Diociaiuti, Andrea;
- Martinelli, Diego;
- Nicita, Francesco;
- Cesario, Claudia;
- Pisaneschi, Elisa;
- Macchiaiolo, Marina;
- Rossi, Sabrina;
- Condorelli, Angelo Giuseppe;
- Zambruno, Giovanna;
- El Hachem, May;
- Fischer, Judith
Publication type:
Article
Long-term follow-up in a pediatric patient with Ligneous Conjunctivitis due to PLG gene mutation in topical plasminogen treatment after successful use of ocular prosthesis for aesthetic rehabilitation: a case report.
Published in:
Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01503-x
By:
- Panfili, Filippo Maria;
- Valente, Paola;
- Ficari, Andrea;
- Cortellessa, Fabiana;
- Vecchio, Davide;
- Gonfiantini, Michaela Veronika;
- Buonuomo, Paola Sabrina;
- Colafati, Giovanna Stefania;
- Agolini, Emanuele;
- Bartuli, Maria;
- Modugno, Alessandra Claudia;
- Macchiaiolo, Marina
Publication type:
Article
Safety and Efficacy of Mek Inhibitors in the Treatment of Plexiform Neurofibromas: A Retrospective Study.
Published in:
Cancer Control: Journal of the Moffitt Cancer Center, 2023, p. 1, doi. 10.1177/10732748221144930
By:
- Cacchione, Antonella;
- Fabozzi, Francesco;
- Carai, Andrea;
- Colafati, Giovanna Stefania;
- Baldo, Giada del;
- Rossi, Sabrina;
- Diana, Martino;
- Megaro, Giacomina;
- Milano, Giuseppe Maria;
- Macchiaiolo, Marina;
- Crocoli, Alessandro;
- De Ioris, Maria Antonietta;
- Boccuto, Luigi;
- Secco, Domitilla Elena;
- Zama, Mario;
- Agolini, Emanuele;
- Tomà, Paolo;
- Mastronuzzi, Angela
Publication type:
Article

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