Sfoglia per Autore BABU, DEEPAK
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.
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
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
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
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
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort
2015-01-01 DE RIENZO, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano Richardi, Patricia; Bona, Gianni; Giordano, Mara
Genetic analysis of GH1, GLI2 and SHOX genes in patients with growth impairment
2015-01-01 Babu, Deepak
Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height.
2014-01-01 Prodam, Flavia; Savastio, S; Genoni, G; Babu, Deepak; Giordano, Mara; Ricotti, R; Aimaretti, Gianluca; Bona, Gianni; Bellone, Simonetta
Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements.
2014-01-01 Babu, Deepak; Mellone, S; Fusco, Ileana; Petri, Antonella; Walker, Ge; Bellone, Simonetta; Prodam, Flavia; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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. | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort | 1-gen-2015 | DE RIENZO, Francesca; Mellone, Simona; Bellone, Simonetta; Babu, Deepak; Fusco, Ileana; Prodam, Flavia; Petri, Antonella; Muniswamy, Ranjith; De Luca, Filippo; Salerno, Mariacarolina; Momigliano Richardi, Patricia; Bona, Gianni; Giordano, Mara | |
| Genetic analysis of GH1, GLI2 and SHOX genes in patients with growth impairment | 1-gen-2015 | Babu, Deepak | |
| Effects of Growth Hormone (GH) Therapy Withdrawal on Glucose Metabolism in Not Confirmed GH Deficient Adolescents at Final Height. | 1-gen-2014 | Prodam, Flavia; Savastio, S; Genoni, G; Babu, Deepak; Giordano, Mara; Ricotti, R; Aimaretti, Gianluca; Bona, Gianni; Bellone, Simonetta | |
| Novel Mutations in the GH Gene (GH1) Uncover Putative Splicing Regulatory Elements. | 1-gen-2014 | Babu, Deepak; Mellone, S; Fusco, Ileana; Petri, Antonella; Walker, Ge; Bellone, Simonetta; Prodam, Flavia; Momigliano Richiardi, P; Bona, Gianni; 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