GIORDANO, Mara

GIORDANO, Mara  

Dipartimento di Scienze della Salute  

Mostra records
Risultati 1 - 20 di 108 (tempo di esecuzione: 0.03 secondi).
Titolo Data di pubblicazione Autore(i) File
. Linkage disequilibrium between intra-locus variants in the Aminopeptidase N gene and test of their association with coeliac disease 1-gen-1999 Giordano, Mara; Bolognesi, E.; S., Dalfonso; M., Lessi; P., Zavattari; G., Oderda; F., Clot; S., Percopo; G., Casari; L., Greco; R., Tosi; P., MOMIGLIANO RICHIARDI
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
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.
A family-based study does not confirm the association of MYO9B with celiac disease in the Italian population 1-gen-2006 Giordano, Mara; Marano, C; Mellai, M; Limongelli, Mg; Bolognesi, E; Clerget Darpoux, F; Momigliano, Patricia; Greco, L.
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency 1-gen-2008 Giordano, Mara; Godi, M; Mellone, S; Petri, Antonella; Vivenza, D; Tiradani, L; Carlomagno, Y; Ferrante, Daniela; Arrigo, T; Corneli, G; Bellone, Simonetta; Giacopelli, F; Santoro, Claudio Ventura; Bona, Gianni; Momigliano Richiardi, P.
A long contiguous stretch of homozygosity disclosed a novel stag3 biallelic pathogenic variant causing primary ovarian insufficiency: A case report and review of the literature 1-gen-2021 Mellone, S.; Zavattaro, M.; Vurchio, D.; Ronzani, S.; Caputo, M.; Leone, I.; Prodam, F.; Giordano, M.
A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature 1-gen-2023 Mancioppi, Valentina; Daffara, Tommaso; Romanisio, Martina; Ceccarini, Giovanni; Pelosini, Caterina; Santini, Ferruccio; Bellone, Simonetta; Mellone, Simona; Baricich, Alessio; Rabbone, Ivana; Aimaretti, Gianluca; Akinci, Baris; Giordano, Mara; Prodam, Flavia
A NOVEL DELETION IN THE GH1 GENE INCLUDING THE IVS3 BRANCH SITE RESPONSIBLE FOR AUTOSOMIC DOMINANT ISOLATED GROWTH HORMONE DEFICIENCY (IGHD-II) 1-gen-2006 D., Vivenza; L., Guazzarotti; M., Godi; D., Frasca; B., DI NATALE; Bona, Gianni; P., MOMIGLIANO RICHIARDI; Giordano, Mara
A novel deletion in the GH1 gene including the IVS3 branch site responsible for autosomal dominant isolated growth hormone deficiency. 1-gen-2006 Vivenza, D; Guazzarotti, L; Godi, M; Frasca, D; di Natale, B; Momigliano, Patricia; Bona, Gianni; Giordano, Mara
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing 1-gen-2011 Vivenza, D; Godi, M; Faienza, Mf; Mellone, S; Moia, Stefania; Rapa, Anna; Petri, Antonella; Bellone, Simonetta; Riccomagno, S; Cavallo, L; Giordano, Mara; Bona, Gianni
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency. 1-gen-2009 Carlomagno, Y; Salerno, M; Vivenza, D; Capalbo, D; Godi, M; Mellone, S; Tiradani, L; Corneli, G; Momigliano Richiardi, P; Bona, Gianni; Giordano, Mara
A rapid method for detection of extra (TA) in the promoter of bilirubin-UDP-glucuronosyl-transferase-1 gene associated with Gilbert Syndrome 1-gen-2000 Pirulli, D; Giordano, Mara; Puzzer, D; Crovella, S; Rigato, I; Tiribelli, C; Momigliano, Patricia; Amoroso, A.
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency 1-gen-2009 Godi, M; Mellone, S; Petri, Antonella; Arrigo, T; Bardelli, C; Corrado, Lucia; Bellone, Simonetta; Prodam, Flavia; MOMIGLIANO RICHIARDI, P; Bona, Gianni; Giordano, Mara
A variation in a Pit-1 site in the GH1 promoter induces a differential transcriptional activity 1-gen-2006 Giordano, Mara; M., Godi; M., Lessi; S., Mellone; R., Paracchini; F., Giacopelli; R., Ravazzolo; Bona, Gianni; P., MOMIGLIANO RICHIARDI
A variation in a Pit-1 site in the growth hormone gene (GH1) promoter induces a differential transcriptional activity 1-gen-2006 Giordano, Mara; Godi, M; Giacopelli, F; Lessi, M; Mellone, S; Paracchini, R; Petri, Antonella; Bellone, J; Ravazzolo, R; Bona, Gianni; Momigliano Richiardi, P.
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population 1-gen-2003 Liguori, M; Sawcer, S; Setakis, E; Compston, A; Giordano, Mara; D'Alfonso, Sandra; Mellai, M; Malferrari, G; Trojano, M; Livrea, P; De Robertis, F; Massacesi, L; Repice, A; Ballerini, C; Biagioli, T; Bomprezzi, R; Cannoni, S; Ristori, G; Salvetti, M; Grimaldi, Lm; Biunno, I; Comi, G; Leone, M; Ferro, I; Naldi, P; Milanese, C; Gellera, C; Loredana, Lm; Savettieri, G; Salemi, G; Aridon, P; Caputo, D; Rosa Guerini, F; Ferrante, P; Momigliano Richiardi, P.
A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population. J. Neuroimmunology, 143: 97-100, 2003 1-gen-2003 Liguori, M; Sawcer, S; Setakis, E; Clayton, D; Compston, A; Giordano, Mara; D'Alfonso, S; Trojano, M; Livrea, P; Massacesi, ; Repice, A; Ballerini, C; Biagioli, T; Bomprezzi, R; Cannoni, S; Ristori, G; Salvetti, M; Grimaldi, L; Biunno, I; Milanese, C; Gellera, C; Savettieri, G; Caputo, D; Momigliano, Patricia
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
Association of the (CA)(n) repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. 1-gen-2012 Miletta, Mc; Scheidegger, Ua; Giordano, Mara; Bozzola, M; Pagani, S; Bona, Gianni; Dattani, M; Hindmarsh, Pc; Petkovic, V; Oser Meier, M; Fluck, Ce; Mullis, P. E.
Association tests with systemic lupus erythematosus (SLE) of IL10 markers indicate a direct involvement of a CA repeat in the 5' regulatory region 1-gen-2002 D'Alfonso, Sandra; Giordano, Mara; Mellai, M; Lanceni, M; Barizzone, N; Marchini, M; Scorza, R; Danieli, Mg; Cappelli, M; Rovere, P; Sabbadini, Mg; Momigliano, Patricia