Zobrazeno 1 - 10 of 265 pro vyhledávání: '"Perroni, L."'
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GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWAYS
Autor: Domenico Vladimiro Libri, Gunnar, Kleinau, Valeria, Vezzoli, Marta, Busnelli, Fabiana, Guizzardi, Antonio Agostino Sinisi, Angela Ida Pincelli, Antonio, Mancini, Gianni, Russo, Paolo Beck Peccoz, Sandro, Loche, Claudio, Crivellaro, Maghnie, Mohamad, Csilla, Krausz, Luca, Persani, Marco, Bonomi, Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, L., Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavo, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D'Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., Di Iorgi, N., Isidori, Andrea, Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, Francesco, Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, A., Salvini, F., Secco, A., Segni, Maria, Simoni, M., Vigneri, R., Weber, G.
INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incomple
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87417b823a6d0021f0f7ba5c112778b1
http://hdl.handle.net/2318/151619
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Italian Study Group on Idiopathic Central Hypogonadism (ICH). Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways
Autor: Libri, D. V., Kleinau, G., Vezzoli, V., Busnelli, M., Guizzardi, F., Sinisi, A. A., Pincelli, A. I., Mancini, A., Russo, G., Eccoz, P. Beck P., Loche, S., Crivellaro, C., Maghnie, M., Krausz, C., Persani, L., Bonomi, M., Aimaretti, G., Altobelli, M., Arnaldi, G., Baldi, M., Bartalena, Luigi, Beccaria, L., Bellastella, G., Bellizzi, M., Bona, G., Borretta, G., Buzi, F., Cannavò, S., Cappa, M., Cariboni, A., Ciampani, T., Cicognani, A., Cisternino, M., Corbetta, S., Corciulo, N., Corona, G., Cozzi, R., D’Elia, A. V., Degli Uberti, E., De Marchi, M., Forti, G., di Iorgi, N., Isidori, A., Fabbri, A., Ferlin, A., Foresta, C., Franceschi, R., Garolla, A., Gaudino, R., Giagulli, V., Grosso, E., Jannini, E., Lanfranco, F., Larizza, L., Lenzi, A., Lombardo, F., Limone, P., Maggi, M., Maggi, R., Maggio, M. C., Mandrile, G., Marino, M., Mencarelli, M. A., Migone, N., Neri, G., Perroni, L., Pignatti, E., Pilotta, A., Pizzocaro, A., Pontecorvi, A., Pozzobon, G., Prodam, F., Radetti, G., Razzore, P., Salerno, M. C., Salvatoni, Alessandro, Salvini, F., Secco, A., Segni, M., Simoni, M., Vigneri, R., Weber, G.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3660::b3b61c7546a0c1e64839388555e7a3ca
http://hdl.handle.net/11383/1991120
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Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
Autor: S Cavani, Petersen Mb, Dean Nizetic, Perfumo C, Franca Dagna-Bricarelli, Strigini P, Pierluigi M, Perroni L, Schmiegelow K, Finbarr E. Cotter, Argusti A
Publikováno v: British Journal of Haematology. 103:213-216
Down syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73e2d0d48730321a7618f974765eeec5
https://doi.org/10.1046/j.1365-2141.1998.00924.x
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Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients
Autor: Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Neri G, Bricarelli F.D., ANDRIA, GENEROSO
Publikováno v: American journal of medical genetics. 85(3)
The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5' untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absenc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9fa5ad97263b1882a7d1355f09d6d674
https://pubmed.ncbi.nlm.nih.gov/10398249
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