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Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS).
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1190, doi. 10.3390/ijms22031190
By:
- Guida, Valentina;
- Calzari, Luciano;
- Fadda, Maria Teresa;
- Piceci-Sparascio, Francesca;
- Digilio, Maria Cristina;
- Bernardini, Laura;
- Brancati, Francesco;
- Mattina, Teresa;
- Melis, Daniela;
- Forzano, Francesca;
- Briuglia, Silvana;
- Mazza, Tommaso;
- Bianca, Sebastiano;
- Valente, Enza Maria;
- Salehi, Leila Bagherjad;
- Prontera, Paolo;
- Pagnoni, Mario;
- Tenconi, Romano;
- Dallapiccola, Bruno;
- Iannetti, Giorgio
Publication type:
Article
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance.
Published in:
Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1336
By:
- Traversa, Alice;
- Marchionni, Enrica;
- Giovannetti, Agnese;
- Genovesi, Maria L.;
- Panzironi, Noemi;
- Margiotti, Katia;
- Napoli, Giulia;
- Piceci Sparascio, Francesca;
- De Luca, Alessandro;
- Petrizzelli, Francesco;
- Carella, Massimo;
- Cardona, Francesco;
- Bernardo, Silvia;
- Manganaro, Lucia;
- Mazza, Tommaso;
- Pizzuti, Antonio;
- Caputo, Viviana
Publication type:
Article
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.
Published in:
Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994
By:
- Guida, Valentina;
- Sparascio, Francesca Piceci;
- Bernardini, Laura;
- Pancheri, Francesco;
- Melis, Daniela;
- Cocciadiferro, Dario;
- Pagnoni, Mario;
- Puzzo, Marianna;
- Goldoni, Marina;
- Barone, Chiara;
- Hozhabri, Hossein;
- Putotto, Carolina;
- Giuffrida, Maria Grazia;
- Briuglia, Silvana;
- Palumbo, Orazio;
- Bianca, Sebastiano;
- Stanzial, Franco;
- Benedicenti, Francesco;
- Kariminejad, Ariana;
- Forzano, Francesca
Publication type:
Article
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335
By:
- Palencia-Campos, Adrian;
- Ullah, Asmat;
- Nevado, Julian;
- Yıldırım, Ruken;
- Unal, Edip;
- Ciorraga, Maria;
- Barruz, Pilar;
- Chico, Lucia;
- Piceci-Sparascio, Francesca;
- Guida, Valentina;
- De Luca, Alessandro;
- Kayserili, Hülya;
- Ullah, Irfan;
- Burmeister, Margit;
- Lapunzina, Pablo;
- Ahmad, Wasim;
- Morales, Aixa V.;
- Ruiz-Perez, Victor L.
Publication type:
Article
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting.
Published in:
International Journal of Environmental Research & Public Health, 2020, v. 17, n. 16, p. 5648, doi. 10.3390/ijerph17165648
By:
- Hozhabri, Hossein;
- Piceci Sparascio, Francesca;
- Sohrabi, Hamidreza;
- Mousavifar, Leila;
- Roy, René;
- Scribano, Daniela;
- De Luca, Alessandro;
- Ambrosi, Cecilia;
- Sarshar, Meysam
Publication type:
Article
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
By:
- Piceci‐Sparascio, Francesca;
- Palencia‐Campos, Adrian;
- Soto‐Bielicka, Patricia;
- D'Anzi, Angela;
- Guida, Valentina;
- Rosati, Jessica;
- Caparros‐Martin, Jose A.;
- Torrente, Isabella;
- D'Asdia, M. Cecilia;
- Versacci, Paolo;
- Briuglia, Silvana;
- Lapunzina, Pablo;
- Tartaglia, Marco;
- Marino, Bruno;
- Digilio, M. Cristina;
- Ruiz‐Perez, Victor L.;
- De Luca, Alessandro
Publication type:
Article
Cover Image, Volume 39, Issue 10.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
By:
- Ferese, Rosangela;
- Bonetti, Monica;
- Consoli, Federica;
- Guida, Valentina;
- Sarkozy, Anna;
- Lepri, Francesca Romana;
- Versacci, Paolo;
- Gambardella, Stefano;
- Calcagni, Giulio;
- Margiotti, Katia;
- Piceci Sparascio, Francesca;
- Hozhabri, Hossein;
- Mazza, Tommaso;
- Digilio, Maria Cristina;
- Dallapiccola, Bruno;
- Tartaglia, Marco;
- Marino, Bruno;
- Hertog, Jeroen den;
- De Luca, Alessandro
Publication type:
Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Published in:
Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
By:
- Ferese, Rosangela;
- Bonetti, Monica;
- Consoli, Federica;
- Guida, Valentina;
- Sarkozy, Anna;
- Lepri, Francesca Romana;
- Versacci, Paolo;
- Gambardella, Stefano;
- Calcagni, Giulio;
- Margiotti, Katia;
- Piceci Sparascio, Francesca;
- Hozhabri, Hossein;
- Mazza, Tommaso;
- Digilio, Maria Cristina;
- Dallapiccola, Bruno;
- Tartaglia, Marco;
- Marino, Bruno;
- Hertog, Jeroen den;
- De Luca, Alessandro
Publication type:
Article
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.
Published in:
Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047
By:
- Calcagni, Giulio;
- Pugnaloni, Flaminia;
- Digilio, Maria Cristina;
- Unolt, Marta;
- Putotto, Carolina;
- Niceta, Marcello;
- Baban, Anwar;
- Piceci Sparascio, Francesca;
- Drago, Fabrizio;
- De Luca, Alessandro;
- Tartaglia, Marco;
- Marino, Bruno;
- Versacci, Paolo
Publication type:
Article

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