FUSCO, ILEANA
FUSCO, ILEANA
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency
2015-01-01 Giordano, Mara; Gertosio, C; Pagani, S; Meazza, C; Fusco, Ileana; Bozzola, E; Bozzola, M.
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
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
Search for genomic micro-rearrangements through array-CGH in patients with Intellectual Disability and Multiple Pituitary Hormone Deficiency, with standard and custom-design array platforms.
2015-01-01 Fusco, Ileana
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency | 1-gen-2015 | Giordano, Mara; Gertosio, C; Pagani, S; Meazza, C; Fusco, Ileana; Bozzola, E; Bozzola, M. | |
| 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 | |
| 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 | |
| Search for genomic micro-rearrangements through array-CGH in patients with Intellectual Disability and Multiple Pituitary Hormone Deficiency, with standard and custom-design array platforms. | 1-gen-2015 | Fusco, Ileana | |
| 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 | |
| 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 |