Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

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

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85027e1251981ee211e1dcb1b2490ebf
https://doi.org/10.1136/jmg.2005.033522

Genotype, phenotype and hormonal levels correlation in nonclassical congenital adrenal hyperplasia

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

Two different types of renal involvement in tuberous sclerosis complex

Autor: F, Scolari, B F, Viola, L, Grazioli, L, Longa, N, Migone, R, Maiorca

Publikováno v: Contributions to nephrology. (136)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9dc138877b63b8286f3d25003ab3c3b7
https://pubmed.ncbi.nlm.nih.gov/11688400

Two Different Types of Renal Involvement in Tuberous Sclerosis Complex

Autor: L. Grazioli, Rosario Maiorca, N. Migone, F. Scolari, Lucia Longa, B.F. Viola

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dcec2c2e86cd6cd18381f6facc8385f0
https://doi.org/10.1159/000060207