DEIDDA, GIANCARLO
DEIDDA, GIANCARLO
Istituto di Biochimica e Biologia Cellulare - IBBC
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
2020 Giacomucci G.; Monforte M.; DiazManera J.; Mul K.; Fernandez Torron R.; Maggi L.; Marini Bettolo C.; Dahlqvist J.R.; Haberlova J.; Camano P.; Gros M.; Tartaglione T.; Cristiano L.; Gerevini S.; Calandra P.; Deidda G.; Giardina E.; Sacconi S.; Straub V.; Vissing J.; Van Engelen B.; Ricci E.; Tasca G.
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
2018 Cascella, Raffaella; Strafella, Claudia; Caputo, Valerio; Maria Galota, Rosaria; Errichiello, Valeria; Scutifero, Marianna; Petillo, Roberta; Luca Marella, Gian; Arcangeli, Mauro; Colantoni, Luca; Zampatti, Stefania; Ricci, Enzo; Deidda, Giancarlo; Politano, Luisa; Giardina, Emiliano
Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.
2017 Teveroni, Emanuela; Pellegrino, Marsha; Sacconi, Sabrina; Calandra, Patrizia; Cascino, Isabella; Fariolivecchioli, Stefano; Puma, Angela; Garibaldi, Matteo; Morosetti, Roberta; Tasca, Giorgio; Ricci, Enzo; Trevisan Carlo, Pietro; Galluzzi, Giuliana; Pontecorvi, Alfredo; Crescenzi, Marco; Deidda, Giancarlo; Moretti, Fabiola
Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
2016 Calandra, P; Cascino, I; Lemmers, Rj; Galluzzi, G; Teveroni, E; Monforte, M; Tasca, G; Ricci, E; Moretti, F; van der Maarel, Sm; Deidda, G
Highly efficient, in vivo optimized, archaeal endonuclease for controlled RNA splicing in mammalian cells
2013 Putti, S; Calandra, P; Rossi, N; Scarabino, D; Deidda, G; Tocchinivalentini, Gp
ARCHAEA-ExPRESs targeting of alpha-tubulin 4 mRNA: a model for high-specificity trans-splicing
2010 Deidda, G; Rossi, N; Putti, S; Tocchinivalentini, Gp
FRG1P is localised in the nucleolus, Cajal bodies, and speckles
2004 S van Koningsbruggen ; R W Dirks ; A M Mommaas ; J J Onderwater ; G Deidda ; G W Padberg ; R R Frants ; S M van der Maarel ;
FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients
2004 Rijkers, T; Deidda, G; van Koningsbruggen, S; van Geel, M; F Lemmers, R J L; T van Deutekom, J C; Figlewicz, D; E Hewitt, J; W Padberg, G; R Frants, R; M van der Maarel, S
An Archaeal endoribonuclease catalyzes cis- and trans- nonpliceosomal splicing in mouse cells.
2003 Deidda G.; Rossi N.;TocchiniValentini G.P.
De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
2000 van der Maarel, SM; Deidda, G; Lemmers, RJLF; van Overveld, PGM; van der Wielen, M; Hewitt, JE; Sandkuijl, L; Bakker, B; van Ommen, GJB; Padberg, GW; Frants, RR
Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
2000 Van Overveld, Pgm; Lemmers, Rjfl; Deidda, G; Sandkuijl, L; Padberg, Gw; Frants, Rr; Van Der Maarel, Sm
A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
1999 van der Maarel, Sm; Deidda, G; Lemmers, Rjlf; Bakker, E; van der Wielen, Mjr; Sandkuijl, L; Hewitt, Je; Padberg, Gw; Frants, Rr
Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): Application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease
1999 Galluzzi G.; Pachi A.; Brambati B.; Mangiola F.; Tonali P.; Felicetti L.; Deidda G.; Cacurri S.; Colantoni L.; Piazzo N.; Vigneti E.; Ricci E.; Servidei S.; Merico B.
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
1999 Ricci, E; Galluzzi, G; Deidda, G; Cacurri, S; Colantoni, L; Merico, B; Piazzo, N; Servidei, S; Vigneti, E; Pasceri, V; Silvestri, G; Mirabella, M; Mangiola, F; Tonali, P; Felicetti, L
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
1998 Lemmers, RJLF; van der Maarel, SM; van Deutekom, JCT; van der Wielen, MJR; Deidda, G; Dauwerse, HG; Hewitt, J; Hofker, M; Bakker, E; Padberg, GW; Frants, RR
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy
1998 Cacurri, S; Piazzo, N; Deidda, G; Vigneti, E; Galluzzi, G; Colantoni, L; Merico, B; Ricci, E; Felicetti, L
Phenotypes of individuals with a ? thal classical allele associated either with a ? thal silent allele or with ? globin gene triplication
1997 Bianco I.; Lerone M.; Foglietta E.; Deidda G.; Cappabianca M.P.; Morlupi L.; Ponzini D.; Grisanti P.; Di Biagio P.; Amato A.; Mezzabotta M.; Graziani B.
Detection of alpha-globin gene disorders by a simple PCR methodology
1996 Foglietta, E; Deidda, G; Graziani, B; Modiano, G; Bianco, I
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
1996 Deidda G.; Cacurri S.; Piazzo N.; Felicetti L.
analysis of beta-thalassemia mutations inthe united arab emirates provides evidence for recurrent origin of IVS1 nt5 (G-C) Mutation.
1995 de Leo, R; Deidda, G; Novelletto, A; Elkalla, S; Armathews, ; Felicetti, L
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging | 1-gen-2020 | Giacomucci G.; Monforte M.; DiazManera J.; Mul K.; Fernandez Torron R.; Maggi L.; Marini Bettolo C.; Dahlqvist J.R.; Haberlova J.; Camano P.; Gros M.; Tartaglione T.; Cristiano L.; Gerevini S.; Calandra P.; Deidda G.; Giardina E.; Sacconi S.; Straub V.; Vissing J.; Van Engelen B.; Ricci E.; Tasca G. | |
| Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD | 1-gen-2018 | Cascella, Raffaella; Strafella, Claudia; Caputo, Valerio; Maria Galota, Rosaria; Errichiello, Valeria; Scutifero, Marianna; Petillo, Roberta; Luca Marella, Gian; Arcangeli, Mauro; Colantoni, Luca; Zampatti, Stefania; Ricci, Enzo; Deidda, Giancarlo; Politano, Luisa; Giardina, Emiliano | |
| Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity. | 1-gen-2017 | Teveroni, Emanuela; Pellegrino, Marsha; Sacconi, Sabrina; Calandra, Patrizia; Cascino, Isabella; Fariolivecchioli, Stefano; Puma, Angela; Garibaldi, Matteo; Morosetti, Roberta; Tasca, Giorgio; Ricci, Enzo; Trevisan Carlo, Pietro; Galluzzi, Giuliana; Pontecorvi, Alfredo; Crescenzi, Marco; Deidda, Giancarlo; Moretti, Fabiola | |
| Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2 | 1-gen-2016 | Calandra, P; Cascino, I; Lemmers, Rj; Galluzzi, G; Teveroni, E; Monforte, M; Tasca, G; Ricci, E; Moretti, F; van der Maarel, Sm; Deidda, G | |
| Highly efficient, in vivo optimized, archaeal endonuclease for controlled RNA splicing in mammalian cells | 1-gen-2013 | Putti, S; Calandra, P; Rossi, N; Scarabino, D; Deidda, G; Tocchinivalentini, Gp | |
| ARCHAEA-ExPRESs targeting of alpha-tubulin 4 mRNA: a model for high-specificity trans-splicing | 1-gen-2010 | Deidda, G; Rossi, N; Putti, S; Tocchinivalentini, Gp | |
| FRG1P is localised in the nucleolus, Cajal bodies, and speckles | 1-gen-2004 | S van Koningsbruggen ; R W Dirks ; A M Mommaas ; J J Onderwater ; G Deidda ; G W Padberg ; R R Frants ; S M van der Maarel ; | |
| FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients | 1-gen-2004 | Rijkers, T; Deidda, G; van Koningsbruggen, S; van Geel, M; F Lemmers, R J L; T van Deutekom, J C; Figlewicz, D; E Hewitt, J; W Padberg, G; R Frants, R; M van der Maarel, S | |
| An Archaeal endoribonuclease catalyzes cis- and trans- nonpliceosomal splicing in mouse cells. | 1-gen-2003 | Deidda G.; Rossi N.;TocchiniValentini G.P. | |
| De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10 | 1-gen-2000 | van der Maarel, SM; Deidda, G; Lemmers, RJLF; van Overveld, PGM; van der Wielen, M; Hewitt, JE; Sandkuijl, L; Bakker, B; van Ommen, GJB; Padberg, GW; Frants, RR | |
| Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity | 1-gen-2000 | Van Overveld, Pgm; Lemmers, Rjfl; Deidda, G; Sandkuijl, L; Padberg, Gw; Frants, Rr; Van Der Maarel, Sm | |
| A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD) | 1-gen-1999 | van der Maarel, Sm; Deidda, G; Lemmers, Rjlf; Bakker, E; van der Wielen, Mjr; Sandkuijl, L; Hewitt, Je; Padberg, Gw; Frants, Rr | |
| Molecular analysis of 4q35 rearrangements in facioscapulohumeral muscular dystrophy (FSHD): Application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease | 1-gen-1999 | Galluzzi G.; Pachi A.; Brambati B.; Mangiola F.; Tonali P.; Felicetti L.; Deidda G.; Cacurri S.; Colantoni L.; Piazzo N.; Vigneti E.; Ricci E.; Servidei S.; Merico B. | |
| Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype | 1-gen-1999 | Ricci, E; Galluzzi, G; Deidda, G; Cacurri, S; Colantoni, L; Merico, B; Piazzo, N; Servidei, S; Vigneti, E; Pasceri, V; Silvestri, G; Mirabella, M; Mangiola, F; Tonali, P; Felicetti, L | |
| Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis | 1-gen-1998 | Lemmers, RJLF; van der Maarel, SM; van Deutekom, JCT; van der Wielen, MJR; Deidda, G; Dauwerse, HG; Hewitt, J; Hofker, M; Bakker, E; Padberg, GW; Frants, RR | |
| Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy | 1-gen-1998 | Cacurri, S; Piazzo, N; Deidda, G; Vigneti, E; Galluzzi, G; Colantoni, L; Merico, B; Ricci, E; Felicetti, L | |
| Phenotypes of individuals with a ? thal classical allele associated either with a ? thal silent allele or with ? globin gene triplication | 1-gen-1997 | Bianco I.; Lerone M.; Foglietta E.; Deidda G.; Cappabianca M.P.; Morlupi L.; Ponzini D.; Grisanti P.; Di Biagio P.; Amato A.; Mezzabotta M.; Graziani B. | |
| Detection of alpha-globin gene disorders by a simple PCR methodology | 1-gen-1996 | Foglietta, E; Deidda, G; Graziani, B; Modiano, G; Bianco, I | |
| Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD) | 1-gen-1996 | Deidda G.; Cacurri S.; Piazzo N.; Felicetti L. | |
| analysis of beta-thalassemia mutations inthe united arab emirates provides evidence for recurrent origin of IVS1 nt5 (G-C) Mutation. | 1-gen-1995 | de Leo, R; Deidda, G; Novelletto, A; Elkalla, S; Armathews, ; Felicetti, L |