Zobrazeno 1 - 10
of 236
pro vyhledávání: '"N. Migone"'
Autor:
Marco Bonomi, Valeria Vezzoli, Csilla Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzocaro, Gianni Russo, Mirella Moro, Letizia Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvo Cannavò, Andrea M Isidori, Angela Ida Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Pregnolato Francesca, Mohamad Maghnie, Mario Maggi, Luca Persani, G Aimaretti, M Altobelli, M R Ambrosio, M Andrioli, G Angeletti, F Arecco, G Arnaldi, M Arosio, A Balsamo, M Baldassarri, L Bartalena, N Bazzoni, L Beccaria, P Beck-Peccoz, G Bellastella, M Bellizzi, F Benedicenti, S Bernasconi, C Bizzarri, G Bona, S Bonadonna, G Borretta, M Boschetti, A Brunani, V Brunelli, F Buzi, C Cacciatore, B Cangiano, M Cappa, R Casalone, A Cassio, P Cavarzere, V Cherubini, T Ciampani, D Cicognani, A Cignarelli, M Cisternino, P Colombo, S Corbetta, N Corciulo, G Corona, R Cozzi, C Crivellaro, I Dalle Mule, L Danesi, A V D’Elia, E degli Uberti, S De Leo, E Della Valle, M De Marchi, N Di Iorgi, A Di Mambro, A Fabbri, C Foresta, G Forti, A R Franceschi, A Garolla, M Ghezzi, C Giacomozzi, M Giusti, E Grosso, G Guabello, M P Guarneri, G Grugni, A M Isidori, F Lanfranco, A Lania, R Lanzi, L Larizza, A Lenzi, S Loche, P Loli, V Lombardi, M C Maggio, G Mandrile, C Manieri, G Mantovani, S Marelli, M Marzullo, M A Mencarelli, N Migone, G Motta, G Neri, G Padova, G Parenti, B Pasquino, A Pia, E Piantanida, E Pignatti, A Pilotta, B Pivetta, M Pollazzon, A Pontecorvi, P Porcelli, G B Pozzan, G Pozzobon, G Radetti, P Razzore, L Rocchetti, R Roncoroni, G Rossi, E Sala, A Salvatoni, F Salvini, A Secco, M Segni, R Selice, P Sgaramella, F Sileo, A A Sinisi, F Sirchia, A Spada, A Tresoldi, R Vigneri, G Weber, S Zucchini
Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f800b3107977776e40dbca2a965ea877
http://hdl.handle.net/11383/2066625
http://hdl.handle.net/11383/2066625
Autor:
Stuart H. Ralston, Tim Cundy, Katrien Janssens, L. Van Maldergem, Carsten Bergmann, S Wientroub, N. Migone, S Simsek, Filip Vanhoenacker, Mary-Louise Bonduelle, W. Van Hul, Núria Guañabens, S Melançon, Maria Teresa Divizia, Christopher P. Bennett, Leon Verbruggen
Publikováno v:
Journal of medical genetics
Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data f
Autor:
S, Einaudi, E, Napolitano, F, Restivo, G, Motta, M, Baldi, G, Tuli, E, Grosso, N, Migone, E, Menegatti, C, Manieri
Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity im
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c7f693c455e5b6952d5d61a8b8a6dd48
http://hdl.handle.net/2318/80847
http://hdl.handle.net/2318/80847
Autor:
R Foa, G Casorati, Andrea Biondi, Giovanni Giudici, Vincenzo Rossi, G Matullo, N Migone, P. Francia di Celle
Publikováno v:
Blood. 75:1834-1840
Rearrangement of the immunoglobulin (Ig) and T-cell receptor (TcR) genes generally has been considered a useful marker of B- and T-cell lineage in lymphoproliferative disorders. However, concomitant rearrangements of Ig and TcR genes have been common
Publikováno v:
Contributions to nephrology. (136)
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann disease to chromosome 19q13
Autor:
L. Van Maldergem, Mary-Louise Bonduelle, Katrien Janssens, R. Gershoni-Baruch, R. Brik, W. Van Hul, Stuart H. Ralston, Núria Guañabens, Filip Vanhoenacker, Leon Verbruggen, N. Migone, E Van Hul
Publikováno v:
Journal of medical genetics
Vrije Universiteit Brussel
Vrije Universiteit Brussel
Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphy