Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
Bodega, B., Bione, S., Dalprà, L., Toniolo, D., Ornaghi, F., Vegetti, W., Ginelli, E., Marozzi, Anna
Published in Human reproduction (Oxford) (01.04.2006)
Published in Human reproduction (Oxford) (01.04.2006)
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Journal Article
Heritability of young- and old-onset ischaemic stroke
Bluher, A., Devan, W. J., Holliday, E. G., Nalls, M., Parolo, S., Bione, S., Giese, A.-K., Boncoraglio, G. B., Maguire, J. M., Müller-Nurasyid, M., Gieger, C., Meschia, J. F., Rosand, J., Rolfs, A., Kittner, S. J., Mitchell, B. D., O'Connell, J. R., Cheng, Y.-C.
Published in European journal of neurology (01.11.2015)
Published in European journal of neurology (01.11.2015)
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Journal Article
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B
Bione, S., Rizzolio, F., Sala, C., Ricotti, R., Goegan, M., Manzini, M.C., Battaglia, R., Marozzi, A., Vegetti, W., Dalprà, L., Crosignani, P.G., Ginelli, E., Nappi, R., Bernabini, S., Bruni, V., Torricelli, F., Zuffardi, O., Toniolo, D.
Published in Human reproduction (Oxford) (01.12.2004)
Published in Human reproduction (Oxford) (01.12.2004)
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Journal Article
A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure
Corre, Tanguy, Schuettler, Julia, Bione, Silvia, Marozzi, Anna, Persani, Luca, Rossetti, Raffaella, Torricelli, Francesca, Giotti, Irene, Vogt, Peter, Toniolo, Daniela
Published in Human reproduction (Oxford) (01.08.2009)
Published in Human reproduction (Oxford) (01.08.2009)
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Journal Article
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea
Gallardo, Teresa D., John, George B., Bradshaw, Karen, Welt, Corrine, Reijo-Pera, Renee, Vogt, Peter H., Touraine, Philippe, Bione, Silvia, Toniolo, Daniela, Nelson, Lawrence M., Zinn, Andrew R., Castrillon, Diego H.
Published in Human reproduction (Oxford) (01.01.2008)
Published in Human reproduction (Oxford) (01.01.2008)
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Journal Article
A Family of Transmembrane Proteins with Homology to the MET-Hepatocyte Growth Factor Receptor
Maestrini, E., Tamagnone, L., Longati, P., Cremona, O., Gulisano, M., Bione, S., Tamanini, F., Neel, B. G., Toniolo, D., Comoglio, P. M.
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
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Journal Article
Transcriptional Organization of a 450-kb Region of the Human X Chromosome in Xq28
Bione, S., Tamanini, F., Maestrini, E., Tribioli, C., Poustka, A., Torri, G., Rivella, S., Toniolo, D.
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.1993)
Published in Proceedings of the National Academy of Sciences - PNAS (01.12.1993)
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Journal Article
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
Mora, M, Cartegni, L, Di Blasi, C, Barresi, R, Bione, S, Raffaele di Barletta, M, Morandi, L, Merlini, L, Nigro, V, Politano, L, Donati, M A, Cornelio, F, Cobianchi, F, Toniolo, D
Published in Annals of neurology (01.08.1997)
Published in Annals of neurology (01.08.1997)
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Journal Article
An X chromosome-linked gene encoding a protein with characteristics of a rhoGAP predominantly expressed in hematopoietic cells
Tribioli, C, Droetto, S, Bione, S, Cesareni, G, Torrisi, M R, Lotti, L V, Lanfrancone, L, Toniolo, D, Pelicci, P
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
Published in Proceedings of the National Academy of Sciences - PNAS (23.01.1996)
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Journal Article
Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae
Tribioli, C, Mancini, M, Plassart, E, Bione, S, Rivella, S, Sala, C, Torri, G, Toniolo, D
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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Journal Article
Unusual expression of emerin in a patient with X-linked Emery–Dreifuss muscular dystrophy
Di Blasi, C, Morandi, L, Raffaele di Barletta, M, Bione, S, Bernasconi, P, Cerletti, M, Bono, R, Blasevich, F, Toniolo, D, Mora, M
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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Journal Article
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure
Mansouri, Mahmoud Reza, Schuster, Jens, Badhai, Jitendra, Stattin, Eva-Lena, Lösel, Ralf, Wehling, Martin, Carlsson, Birgit, Hovatta, Outi, Karlström, Per Olof, Golovleva, Irina, Toniolo, Daniela, Bione, Silvia, Peluso, John, Dahl, Niklas
Published in Human molecular genetics (01.12.2008)
Published in Human molecular genetics (01.12.2008)
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Journal Article
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
Bione, S, Maestrini, E, Rivella, S, Mancini, M, Regis, S, Romeo, G, Toniolo, D
Published in Nature genetics (01.12.1994)
Published in Nature genetics (01.12.1994)
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Journal Article
Blood cell mitochondrial DNA content and premature ovarian aging
Bonomi, Marco, Somigliana, Edgardo, Cacciatore, Chiara, Busnelli, Marta, Rossetti, Raffaella, Bonetti, Silvia, Paffoni, Alessio, Mari, Daniela, Ragni, Guido, Persani, Luca
Published in PloS one (03.08.2012)
Published in PloS one (03.08.2012)
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Journal Article
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Bione, S, D'Adamo, P, Maestrini, E, Gedeon, A K, Bolhuis, P A, Toniolo, D
Published in Nature genetics (01.04.1996)
Published in Nature genetics (01.04.1996)
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Journal Article
Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Raffaele di Barletta, Marina, Ricci, Enzo, Galluzzi, Giuliana, Tonali, Pietro, Mora, Marina, Morandi, Lucia, Romorini, Alessandro, Voit, Thomas, Orstavik, Karen Helene, Merlini, Luciano, Trevisan, Carlo, Biancalana, Valerie, Housmanowa-Petrusewicz, Irena, Bione, Silvia, Ricotti, Roberta, Schwartz, Ketty, Bonne, Giselle, Toniolo, Daniela
Published in American journal of human genetics (01.04.2000)
Published in American journal of human genetics (01.04.2000)
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Journal Article
A Comparative Transcriptional Map of a Region of 250 kb on the Human and Mouse X Chromosome between the G6PD and the FLN1 Genes
Rivella, Stefano, Tamanini, Filippo, Bione, Silvia, Mancini, Mita, Herman, Gail, Chatterjee, Aurobindo, Maestrini, Elena, Toniolo, Daniela
Published in Genomics (San Diego, Calif.) (10.08.1995)
Published in Genomics (San Diego, Calif.) (10.08.1995)
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Journal Article
A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility
Bione, Silvia, Sala, Cinzia, Manzini, Chiara, Arrigo, Giulia, Zuffardi, Orsetta, Banfi, Sandro, Borsani, Giuseppe, Jonveaux, Philippe, Philippe, Christophe, Zuccotti, Maurizio, Ballabio, Andrea, Toniolo, Daniela
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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