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Author/Creator Manfredini, Emanuela

2. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016)

Authors:
Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div...
Journal:
Clinical epigenetics
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016)

Authors:
Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div...
Journal:
Clinical epigenetics
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Detection of the first OCA6 Italian patient in a large cohort of albino subjects. Issue 3 (March 2016)

Authors:
Veniani, Emanuela; Mauri, Lucia; Manfredini, Emanuela; Gesu, Giovanni P.; Patrosso, Maria Cristina; Zelante, Leopoldo; D'Agruma, Leonardo; Del Longo, Alessandra; Mazza, Marco; Piozzi, Elena; Penco, Silvana; Primignani, Paola
Journal:
Journal of dermatological science
Issue:
Volume 81:Issue 3(2016:Mar.)
Page Start:
208
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Issue 1 (December 2016)

Authors:
Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Div...
Journal:
Clinical epigenetics
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Issue 1 (December 2016)

Authors:
Mauri, Lucia; Uebe, Steffen; Sticht, Heinrich; Vossmerbaeumer, Urs; Weisschuh, Nicole; Manfredini, Emanuela; Maselli, Edoardo; Patrosso, Mariacristina; Weinreb, Robert; Penco, Silvana; Reis, André; Pasutto, Francesca
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. (2nd July 2016)

Authors:
Primignani, Paola; Allegrini, Davide; Manfredini, Emanuela; Romitti, Lorenza; Mauri, Lucia; Patrosso, Maria Cristina; Veniani, Emanuela; Franzoni, Alessandra; Del Longo, Alessandra; Gesu, Giovanni Pietro; Piozzi, Elena; Damante, Giuseppe; Penco, Silvana
Journal:
Ophthalmic genetics
Issue:
Volume 37:Number 3(2016)
Page Start:
307
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗