Grammatico Paola

professore associato
SSD: 
MED/03
paola.grammatico@uniroma1.it

Pubblicazioni

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis (2018)
Majore, Silvia; Bonaccorsi di Patti, Maria Carmela; Valiante, Michele; Polticelli, Fabio; Cortese, Andrea; DI BARTOLOMEO, Sabrina; De Bernardo, Carmelilia; De Muro, Marianna; Faienza, Fiorella; Radio, Francesca Clementina; Grammatico, Paola; Musci, Giovanni
BIOCHIMICA ET BIOPHYSICA ACTA. MOLECULAR BASIS OF DISEASE . 1864: pagg. 464-470
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia (2018)
D’Andrea, Elvira; Lagerberg, Tyra; de Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo
EUROPEAN JOURNAL OF HUMAN GENETICS . pagg. 1-9
A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations (2017)
Ritelli, Marco; Morlino, Silvia; Giacopuzzi, Edoardo; Bernardini, Laura; Torres, Barbara; Santoro, Graziano; Ravasio, Viola; Chiarelli, Nicola; D'Angelantonio, Daniela; Novelli, Antonio; Grammatico, Paola; Colombi, Marina; Castori, Marco
Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology (2017)
Piceci, F.; Morlino, Silvia; Castori, Marco; Buffone, E.; De Luca, A; Grammatico, Paola; Guida, V.
CLINICAL GENETICS . 91: pagg. 774-779