Sfoglia per Autore
Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A
2020-01-01 Famà, Rosella; Borroni, Ester; Zanolini, Diego; Merlin, Simone; Bruscaggin, Valentina; Walker, Gillian E; Olgasi, Cristina; Babu, Deepak; Agnelli Giacchello, Jacopo; Valeri, Federica; Giordano, Mara; Borchiellini, Alessandra; Follenzi, Antonia
Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family
2020-01-01 Dellepiane, R. M.; Baselli, L. A.; Cazzaniga, M.; Lougaris, V.; Macor, P.; Giordano, M.; Gualtierotti, R.; Cugno, M.
Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity
2020-01-01 Ricotti, R.; De Feudis, M.; Peri, C.; Corazzari, M.; Genoni, G.; Giordano, M.; Mancioppi, V.; Agosti, E.; Bellone, S.; Prodam, F.
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
2020-01-01 Babu, D.; Vannelli, S.; Fanelli, A.; Mellone, S.; Baffico, A. M.; Corrado, L.; Essa, W. A.; Grandone, A.; Bellone, S.; Monzani, A.; Vinci, G.; De Sanctis, L.; Stuppia, L.; Prodam, F.; Giordano, M.
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood
2019-01-01 Caputo, M.; Mele, C.; Zavattaro, M.; Sama, M. T.; Giordano, M.; Umari, P.; Volpe, A.; Aimaretti, G.; Prodam, F.
Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
2019-01-01 Monzani, Alice; Babu, Deepak; Mellone, Simona; Genoni, Giulia; Fanelli, Antonella; Prodam, Flavia; Bellone, Simonetta; Giordano, Mara
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
2019-01-01 Babu, D; Fanelli, A; Mellone, S; Muniswamy, R; Wasniewska, M; Prodam, F; Petri, A; Bellone, S; Salerno, Mc; Giordano, M.
The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS?
2019-01-01 Corrado, Lucia; Viviana, Pensato; Croce, Roberta; DI PIERRO, Alice; Mellone, Simona Natalina; Eleonora Dalla Bella, ; Ettore, Salsano; Elvezia Maria Paraboschi, ; Giordano, Mara; Saraceno, Massimo; Mazzini, Letizia; Cinzia, Gellera; D'Alfonso, Sandra
Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency
2019-01-01 De Feudis, M.; Walker, G. E.; Genoni, G.; Manfredi, M.; Agosti, E.; Giordano, M.; Caputo, M.; Di Trapani, L.; Marengo, E.; Aimaretti, G.; Filigheddu, N.; Bellone, S.; Bona, G.; Prodam, F.
Cardiovascular Risk Profile of Patients Hospitalized for Myocardial Infarction is Undestimated by Traditional Risk Factors and is Better Estimated by a Genetic Analysis Based Upon Single Nucleotide Polymorphisms: A Retrospective Study
2018-01-01 Rolla, Roberta; Lupi, Alessandro; Bauce, Giulia; Alice, Appiani; Maria Rita Portalupi, ; Patrizia, Pergolini; Lidia, Rossi; Giordano, Mara; Bongo, ANGELO SANTE; Bellomo, Giorgio
Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity
2018-01-01 Genoni, Giulia; Monzani, Alice; Castagno, Matteo; Ricotti, Roberta; Rapa, Anna; Petri, Antonella; Babu, Deepak; Giordano, Mara; Prodam, Flavia; Bona, Gianni; Bellone, Simonetta
CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 Di Gregorio, Eleonora; Riberi, Evelise; Belligni, Elga Fabia; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, Valeria Giorgia; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; De Marchi, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 Di Gregorio, E.; Riberi, E.; Belligni, E. F.; Biamino, E.; Spielmann, M.; Ala, U.; Calcia, A.; Bagnasco, I.; Carli, D.; Gai, G.; Giordano, M.; Guala, A.; Keller, R.; Mandrile, G.; Arduino, C.; Maffe, A.; Naretto, V. G.; Sirchia, F.; Sorasio, L.; Ungari, S.; Zonta, A.; Zacchetti, G.; Talarico, F.; Pappi, P.; Cavalieri, S.; Giorgio, E.; Mancini, C.; Ferrero, M.; Brussino, A.; Savin, E.; Gandione, M.; Pelle, A.; Giachino, D. F.; De Marchi, M.; Restagno, G.; Provero, P.; Cirillo Silengo, M.; Grosso, E.; Buxbaum, J. D.; Pasini, B.; De Rubeis, S.; Brusco, A.; Ferrero, G. B.
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature
2017-01-01 Dias, Christel; Giordano, Mara; Frechette, Rosalie; Bellone, Simonetta; Polychronakos, Constantin; Legault, Laurent; Deal, Cheri L; Goodyer, Cynthia Gates
An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report
2017-01-01 Paganelli, Valeria; Giordano, Mara; Meazza, Cristina; Schena, Lucia; Bozzola, Mauro
Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
2016-01-01 Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona Natalina; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara
Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS)
2016-01-01 Fusco, Ileana; Babu, Deepak; Mellone, Simona; Barizzone, Nadia; Prodam, Flavia; Fanelli, Antonella; Muniswamy, Ranjit; Petri, Antonella; Bellone, Simonetta; Bona, Gianni; Giordano, Mara
A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency
2016-01-01 Giordano, Mara; Muratore, Valentina; Babu, Deepak; Meazza, Cristina; Bozzola, Mauro
Genetic causes of isolated and combined pituitary hormone deficiency
2016-01-01 Giordano, Mara
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease
2016-01-01 Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona; Zonta, Andrea; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Identification and functional characterization of a novel splicing variant in the F8 coagulation gene causing severe hemophilia A | 1-gen-2020 | Famà, Rosella; Borroni, Ester; Zanolini, Diego; Merlin, Simone; Bruscaggin, Valentina; Walker, Gillian E; Olgasi, Cristina; Babu, Deepak; Agnelli Giacchello, Jacopo; Valeri, Federica; Giordano, Mara; Borchiellini, Alessandra; Follenzi, Antonia | |
| Hereditary deficiency of the second component of complement: Early diagnosis and 21-year follow-up of a family | 1-gen-2020 | Dellepiane, R. M.; Baselli, L. A.; Cazzaniga, M.; Lougaris, V.; Macor, P.; Giordano, M.; Gualtierotti, R.; Cugno, M. | |
| Haptoglobin Phenotypes Are Associated with the Postload Glucose and Insulin Levels in Pediatric Obesity | 1-gen-2020 | Ricotti, R.; De Feudis, M.; Peri, C.; Corazzari, M.; Genoni, G.; Giordano, M.; Mancioppi, V.; Agosti, E.; Bellone, S.; Prodam, F. | |
| Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency | 1-gen-2020 | Babu, D.; Vannelli, S.; Fanelli, A.; Mellone, S.; Baffico, A. M.; Corrado, L.; Essa, W. A.; Grandone, A.; Bellone, S.; Monzani, A.; Vinci, G.; De Sanctis, L.; Stuppia, L.; Prodam, F.; Giordano, M. | |
| Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood | 1-gen-2019 | Caputo, M.; Mele, C.; Zavattaro, M.; Sama, M. T.; Giordano, M.; Umari, P.; Volpe, A.; Aimaretti, G.; Prodam, F. | |
| Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies | 1-gen-2019 | Monzani, Alice; Babu, Deepak; Mellone, Simona; Genoni, Giulia; Fanelli, Antonella; Prodam, Flavia; Bellone, Simonetta; Giordano, Mara | |
| Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization. | 1-gen-2019 | Babu, D; Fanelli, A; Mellone, S; Muniswamy, R; Wasniewska, M; Prodam, F; Petri, A; Bellone, S; Salerno, Mc; Giordano, M. | |
| The First Case of the TARDBP p.G294V Mutation in a Homozygous State: Is a Single Pathogenic Allele Sufficient to Cause ALS? | 1-gen-2019 | Corrado, Lucia; Viviana, Pensato; Croce, Roberta; DI PIERRO, Alice; Mellone, Simona Natalina; Eleonora Dalla Bella, ; Ettore, Salsano; Elvezia Maria Paraboschi, ; Giordano, Mara; Saraceno, Massimo; Mazzini, Letizia; Cinzia, Gellera; D'Alfonso, Sandra | |
| Identification of Haptoglobin as a Readout of rhGH Therapy in GH Deficiency | 1-gen-2019 | De Feudis, M.; Walker, G. E.; Genoni, G.; Manfredi, M.; Agosti, E.; Giordano, M.; Caputo, M.; Di Trapani, L.; Marengo, E.; Aimaretti, G.; Filigheddu, N.; Bellone, S.; Bona, G.; Prodam, F. | |
| Cardiovascular Risk Profile of Patients Hospitalized for Myocardial Infarction is Undestimated by Traditional Risk Factors and is Better Estimated by a Genetic Analysis Based Upon Single Nucleotide Polymorphisms: A Retrospective Study | 1-gen-2018 | Rolla, Roberta; Lupi, Alessandro; Bauce, Giulia; Alice, Appiani; Maria Rita Portalupi, ; Patrizia, Pergolini; Lidia, Rossi; Giordano, Mara; Bongo, ANGELO SANTE; Bellomo, Giorgio | |
| Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity | 1-gen-2018 | Genoni, Giulia; Monzani, Alice; Castagno, Matteo; Ricotti, Roberta; Rapa, Anna; Petri, Antonella; Babu, Deepak; Giordano, Mara; Prodam, Flavia; Bona, Gianni; Bellone, Simonetta | |
| CNVs analysis in a cohort of isolated and syndromic DD/ID reveals novel genomic disorders, position effects and candidate disease genes | 1-gen-2017 | Di Gregorio, Eleonora; Riberi, Evelise; Belligni, Elga Fabia; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, Valeria Giorgia; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; De Marchi, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 1-gen-2017 | Di Gregorio, E.; Riberi, E.; Belligni, E. F.; Biamino, E.; Spielmann, M.; Ala, U.; Calcia, A.; Bagnasco, I.; Carli, D.; Gai, G.; Giordano, M.; Guala, A.; Keller, R.; Mandrile, G.; Arduino, C.; Maffe, A.; Naretto, V. G.; Sirchia, F.; Sorasio, L.; Ungari, S.; Zonta, A.; Zacchetti, G.; Talarico, F.; Pappi, P.; Cavalieri, S.; Giorgio, E.; Mancini, C.; Ferrero, M.; Brussino, A.; Savin, E.; Gandione, M.; Pelle, A.; Giachino, D. F.; De Marchi, M.; Restagno, G.; Provero, P.; Cirillo Silengo, M.; Grosso, E.; Buxbaum, J. D.; Pasini, B.; De Rubeis, S.; Brusco, A.; Ferrero, G. B. | |
| Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature | 1-gen-2017 | Dias, Christel; Giordano, Mara; Frechette, Rosalie; Bellone, Simonetta; Polychronakos, Constantin; Legault, Laurent; Deal, Cheri L; Goodyer, Cynthia Gates | |
| An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report | 1-gen-2017 | Paganelli, Valeria; Giordano, Mara; Meazza, Cristina; Schena, Lucia; Bozzola, Mauro | |
| Testing for the cytosine insertion in the VNTR of MUC-1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. | 1-gen-2016 | Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona Natalina; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara | |
| Variations in the High Mobility Group-A2 Gene (HMGA2) Are Associated With Idiopathic Short Stature (ISS) | 1-gen-2016 | Fusco, Ileana; Babu, Deepak; Mellone, Simona; Barizzone, Nadia; Prodam, Flavia; Fanelli, Antonella; Muniswamy, Ranjit; Petri, Antonella; Bellone, Simonetta; Bona, Gianni; Giordano, Mara | |
| A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency | 1-gen-2016 | Giordano, Mara; Muratore, Valentina; Babu, Deepak; Meazza, Cristina; Bozzola, Mauro | |
| Genetic causes of isolated and combined pituitary hormone deficiency | 1-gen-2016 | Giordano, Mara | |
| Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease | 1-gen-2016 | Musetti, Claudio; Babu, Deepak; Fusco, Ileana; Mellone, Simona; Zonta, Andrea; Quaglia, Marco; Cantaluppi, Vincenzo; Stratta, Piero; Giordano, Mara |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile