TREMOLATERRA, MARIA ROBERTA
TREMOLATERRA, MARIA ROBERTA
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy.
2000 Frisso, Giulia; Carsana, Antonella; Tremolaterra, MARIA ROBERTA; Orsini, A. M. V.; Santoro, Lucio; Salvatore, Francesco
Analysis of macrodeletions in the dystrophin gene in patients from southern Italy and correlation between genotype and phenotype. The presence/absence of the III hinge region of the dystrophin protein affects the phenotype.
2003 Carsana, Antonella; Frisso, Giulia; Tremolaterra, MARIA ROBERTA; Di Lorenzo, N; Lanzillo, Roberta; Santoro, Lucio; Salvatore, Francesco
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene.
2004 Frisso, Giulia; Tremolaterra, MARIA ROBERTA; E., Ricci; D., De Rasmo; Carsana, Antonella; Salvatore, Francesco
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene
2017 Esposito, Gabriella; Tremolaterra, MARIA ROBERTA; Marsocci, Evelina; Tandurella, Ic; Fioretti, Tiziana; Savarese, Maria; Carsana, Antonella
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing
2018 Esposito, Gabriella; Tremolaterra, Maria Roberta; Savarese, Maria; Spiniello, Michele; Patrizio, Maria Pia; Lombardo, Barbara; Pastore, Lucio; Salvatore, Francesco; Carsana, Antonella
| Titolo | Tipologia | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|---|
| Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. | 8.02 Comunicazioni a Convegni o Seminari | 2000 | Frisso, Giulia; Carsana, Antonella; Tremolaterra, MARIA ROBERTA; Orsini, A. M. V.; Santoro, Lucio; Salvatore, Francesco | |
| Analysis of macrodeletions in the dystrophin gene in patients from southern Italy and correlation between genotype and phenotype. The presence/absence of the III hinge region of the dystrophin protein affects the phenotype. | 8.02 Comunicazioni a Convegni o Seminari | 2003 | Carsana, Antonella; Frisso, Giulia; Tremolaterra, MARIA ROBERTA; Di Lorenzo, N; Lanzillo, Roberta; Santoro, Lucio; Salvatore, Francesco | |
| Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. | 8.02 Comunicazioni a Convegni o Seminari | 2004 | Frisso, Giulia; Tremolaterra, MARIA ROBERTA; E., Ricci; D., De Rasmo; Carsana, Antonella; Salvatore, Francesco | |
| Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene | 1.1 Articolo in rivista | 2017 | Esposito, Gabriella; Tremolaterra, MARIA ROBERTA; Marsocci, Evelina; Tandurella, Ic; Fioretti, Tiziana; Savarese, Maria; Carsana, Antonella | |
| Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing | 1.1 Articolo in rivista | 2018 | Esposito, Gabriella; Tremolaterra, Maria Roberta; Savarese, Maria; Spiniello, Michele; Patrizio, Maria Pia; Lombardo, Barbara; Pastore, Lucio; Salvatore, Francesco; Carsana, Antonella |