Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
Mio, Catia, Fogolari, Federico, Pezzoli, Laura, D’Elia, Angela V., Iascone, Maria, Damante, Giuseppe
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
Thyroid‐specific transcription factors control Hex promoter activity
Puppin, Cinzia, D’Elia, Angela V., Pellizzari, Lucia, Russo, Diego, Arturi, Franco, Presta, Ivan, Filetti, Sebastiano, Bogue, Clifford W., Denson, Lee A., Damante, Giuseppe
Published in Nucleic acids research (01.04.2003)
Published in Nucleic acids research (01.04.2003)
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Journal Article
Expression and Localization of the Homeodomain-Containing Protein HEX in Human Thyroid Tumors
D’Elia, Angela V, Tell, Gianluca, Russo, Diego, Arturi, Franco, Puglisi, Fabio, Manfioletti, Guidalberto, Gattei, Valter, Mack, David L, Cataldi, Palmina, Filetti, Sebastiano, Di Loreto, Carla, Damante, Giuseppe
Published in The journal of clinical endocrinology and metabolism (01.03.2002)
Published in The journal of clinical endocrinology and metabolism (01.03.2002)
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Journal Article
A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma
D'Elia, Angela V., Grimaldi, Franco, Pizzolitto, Stefano, De Maglio, Giovanna, Bregant, Elisa, Passon, Nadia, Franzoni, Alessandra, Verrienti, Antonella, Tamburrano, Giulia, Durante, Cosimo, Filetti, Sebastiano, Fogolari, Federico, Russo, Diego, Damante, Giuseppe
Published in Clinical endocrinology (Oxford) (01.03.2013)
Published in Clinical endocrinology (Oxford) (01.03.2013)
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Journal Article
Effects of Histone Acetylation on Sodium Iodide Symporter Promoter and Expression of Thyroid-Specific Transcription Factors
Puppin, Cinzia, D’Aurizio, Federica, D’Elia, Angela V, Cesaratto, Laura, Tell, Gianluca, Russo, Diego, Filetti, Sebastiano, Ferretti, Elisabetta, Tosi, Emanuele, Mattei, Tiziana, Pianta, Annalisa, Pellizzari, Lucia, Damante, Giuseppe
Published in Endocrinology (Philadelphia) (01.09.2005)
Published in Endocrinology (Philadelphia) (01.09.2005)
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Journal Article
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
Graziano, Claudio, D'Elia, Angela V., Mazzanti, Laura, Moscano, Filomena, Guidelli Guidi, Simonetta, Scarano, Emanuela, Turchetti, Daniela, Franzoni, Emilio, Romeo, Giovanni, Damante, Giuseppe, Seri, Marco
Published in American journal of medical genetics. Part A (01.08.2007)
Published in American journal of medical genetics. Part A (01.08.2007)
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Journal Article
Missense mutations of human homeoboxes: A review
D'Elia, Angela V., Tell, Gianluca, Paron, Igor, Pellizzari, Lucia, Lonigro, Renata, Damante, Giuseppe
Published in Human mutation (01.11.2001)
Published in Human mutation (01.11.2001)
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Journal Article
Functional interaction among thyroid-specific transcription factors: Pax8 regulates the activity of Hex promoter
Puppin, Cinzia, Presta, Ivan, D’Elia, Angela V., Tell, Gianluca, Arturi, Franco, Russo, Diego, Filetti, Sebastiano, Damante, Giuseppe
Published in Molecular and cellular endocrinology (12.02.2004)
Published in Molecular and cellular endocrinology (12.02.2004)
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Journal Article
Frequency of Factor V, Prothrombin and Methylenetetrahydrofolate Reductase Gene Variants in Preeclampsia
D’Elia, Angela V., Driul, Lorenza, Giacomello, Roberta, Colaone, Roberta, Fabbro, Dora, Di Leonardo, Cristina, Florio, Pasquale, Petraglia, Felice, Marchesoni, Diego, Damante, Giuseppe
Published in Gynecologic and obstetric investigation (01.01.2002)
Published in Gynecologic and obstetric investigation (01.01.2002)
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Journal Article
Association between Plasminogen Activator Inhibitor 1 Gene Polymorphisms and Preeclampsia
Fabbro, Dora, D’Elia, Angela V., Spizzo, Riccardo, Driul, Lorenza, Barillari, Giovanni, Di Loreto, Carla, Marchesoni, Diego, Damante, Giuseppe
Published in Gynecologic and obstetric investigation (01.01.2003)
Published in Gynecologic and obstetric investigation (01.01.2003)
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Journal Article
Missense mutations of human homeoboxes: A review
D'Elia, Angela V., Tell, Gianluca, Paron, Igor, Pellizzari, Lucia, Lonigro, Renata, Damante, Giuseppe
Published in Human mutation (01.04.2002)
Published in Human mutation (01.04.2002)
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Journal Article
Expression and Localization of the Homeodomain-Containing Protein HEX in Human Thyroid Tumors
D’Elia, Angela V, Tell, Gianluca, Russo, Diego, Arturi, Franco, Puglisi, Fabio, Manfioletti, Guidalberto, Gattei, Valter, Mack, David L, Cataldi, Palmina, Filetti, Sebastiano, Di Loreto, Carla, Damante, Giuseppe
Published in The journal of clinical endocrinology and metabolism (01.03.2002)
Published in The journal of clinical endocrinology and metabolism (01.03.2002)
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Journal Article