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Human Mutation, ISSN 1059-7794, 03/2013, Volume 34, Issue 3, pp. 411 - 416
Pseudohypoparathyroidism ( PHP ) is a rare heterogeneous genetic disorder characterized by end‐organ resistance to parathyroid hormone due to partial... 
GNAS | pseudohypoparathyroidism | PHP | type | PPHP | Type Ia | PHP-Ia | Pseudohypoparathyroidism | ALBRIGHT-HEREDITARY-OSTEODYSTROPHY | PARENTAL ORIGIN | STIMULATORY G-PROTEIN | IDENTIFICATION | MOLECULAR ANALYSIS | GENETICS & HEREDITY | RESISTANCE | G(S)ALPHA | PATIENT | type Ia | GS-ALPHA-GENE | DELETION MUTATION | G proteins | Genetic counseling
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 08/2015, Volume 29, Issue 4, pp. 515 - 516
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 08/2015, Volume 29, Issue 4, pp. 515 - 516
Journal Article
Best Practice & Research Clinical Endocrinology & Metabolism, ISSN 1521-690X, 08/2015, Volume 29, Issue 4, p. 515
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2006, Volume 1, Issue 1, pp. 9 - 9
Premature ovarian failure (POF) is a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles... 
MEDICINE, RESEARCH & EXPERIMENTAL | GENE | PHENOTYPE | FOLLICLE-STIMULATING-HORMONE | RECEPTOR | FOXL2 | PRIMARY AMENORRHEA | MUTATIONS
Journal Article
Journal Article
L'Endocrinologo, ISSN 1590-170X, 8/2019, Volume 20, Issue 4, pp. 212 - 215
Con il termine ipotiroidismo centrale (IC) si indica un difetto della secrezione di ormoni tiroidei secondario a un’insufficiente azione stimolatoria del TSH... 
Ipopituitarismo | Medicine & Public Health | L-Tiroxina | Metabolic Diseases | Terapia sostitutiva | TSH | Internal Medicine | Medicine/Public Health, general | Endocrinology | Ipotiroidismo centrale
Journal Article
by Bonomi, Marco and Vezzoli, Valeria and Krausz, Csilla and Guizzardi, Fabiana and Vezzani, Silvia and Simoni, Manuela and Bassi, Ivan and Duminuco, Paolo and Di Iorgi, Natascia and Giavoli, Claudia and Pizzocaro, Alessandro and Russo, Gianni and Moro, Mirella and Fatti, Letizia and Ferlin, Alberto and Mazzanti, Laura and Zatelli, Maria Chiara and Cannavò, Salvo and Isidori, Andrea M and Pincelli, Angela Ida and Prodam, Flavia and Mancini, Antonio and Limone, Paolo and Tanda, Maria Laura and Gaudino, Rossella and Salerno, Mariacarolina and Francesca, Pregnolato and Maghnie, Mohamad and Maggi, Mario and Persani, Luca and Aimaretti, G and Altobell, M and Ambrosio, M.R and Andrioli, M and Angelett, G and Arecco, F and Arnald, G and Arosio, M and Balsamo, A and Baldassarr, M and Bartalena, L and Bazzon, N and Beccari, L and Beck-Peccoz, P and Bellastella, G and Bellizz, M and Benedicent, F and Bernasconi, S and Bizzarri, C and Bona, G and Bonadonna, S and Borrett, G and Boschetti, M and Brunani, A and Brunelli, V and Buz, F and Cacciatore, C and Cangiano, B and Cappa, M and Casalone, R and Cassio, A and Cavarzere, P and Cherubini, V and Ciampani, T and Cicognan, D and Cignarell, A and Cisternin, M and Colombo, P and Corbetta, S and Corciul, N and Corona, G and Cozzi, R and Crivellaro, C and Dalle Mule, I and Danesi, L and Eli, A.V.D and Degli Uberti, E and De Leo, S and Della Valle, E and De Marchi, M and Di Iorgi, N and Di Mambr, A and Fabbri, A and Foresta, C and Forti, G and Franceschi, A.R and Garolla, A and Ghezzi, M and Giacomozzi, C and Giusti, M and Grosso, E and Guabello, G and Guarneri, M.P and Grugni, G and Lanfranco, F and Lania, A and Lanzi, R and Larizza, L and Lenzi, A and Loche, S and ... and Italian Network Cent Hypogonadism and Italian Network on Central Hypogonadism (NICe)
European Journal of Endocrinology, ISSN 0804-4643, 01/2018, Volume 178, Issue 1, pp. 23 - 32
Journal Article
Clinical Endocrinology, ISSN 0300-0664, 06/2011, Volume 74, Issue 6, pp. 671 - 672
Journal Article
Development, ISSN 0950-1991, 04/2004, Volume 131, Issue 7, pp. 1577 - 1586
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2014, Volume 99, Issue 4, pp. E724 - E728
Context: Pseudohypoparathyroidism type Ib (PHP-Ib) is a rare imprinting disorder characterized by end-organ resistance to PTH and, frequently, to... 
GNAS EPIGENETIC DEFECTS | PROTEIN ALPHA-SUBUNIT | ENDOCRINOLOGY & METABOLISM | MUTATIONS | CIS | CONTROL ELEMENT | LOCUS | REGION | Genomic Imprinting - genetics | Young Adult | Genes, Dominant | Syntaxin 16 - genetics | Pedigree | Gene Deletion | Humans | Pseudohy