Výsledky vyhledávání - "Roberto Romoli"

Hypogonadotropic Hypogonadism as a Presenting Feature of Late-Onset X-Linked Adrenal Hypoplasia Congenita

Autor: Roberto Romoli, Luca Persani, John C. Achermann, Giorgio Borretta, Anna Spada, Paolo Beck-Peccoz, J. Larry Jameson, Giovanna Mantovani, Gokhan Ozisik

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 87:44-48

Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood. Impaired sexual development because of hypogonadotropic hypogonadism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10d81d350dde8224905e0bee74f61fc
https://doi.org/10.1210/jcem.87.1.8163

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Multigenerational familial medullary thyroid cancer (FMTC): evidence for FMTC phenocopies and association with papillary thyroid cancer

Autor: G. Ghilardi, Paolo Beck-Peccoz, Roberto Romoli, Luisella Alberti, N. Cerutti, Deborah Mannavola, Laura Fugazzola

Publikováno v: Clinical Endocrinology. 56:53-63

Summary background Occurrence in a familial setting is well established for medullary thyroid carcinoma (MTC) and has been more recently reported for papillary thyroid cancer (PTC). Germline mutations or rearrangements of the RET proto-oncogene are t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::250edb6bf8bdf603e4af52477a211940
https://doi.org/10.1046/j.0300-0664.2001.01434.x

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Mutational Analysis of GNAS1 in Patients with Pseudohypoparathyroidism: Identification of Two Novel Mutations1

Autor: Anna Spada, Giovanna Mantovani, Giovanna Weber, Roberto Romoli, E. De Menis, V. Brunelli, S. Beccio, Paolo Beck-Peccoz

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 85:4243-4248

Pseudohypoparathyroidism (PHP) refers to two major variants that generally coexist in the same family, PHP type Ia (PHP Ia), in which both PTH resistance and a constellation of physical features, termed Albright's hereditary osteodystrophy (AHO), are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2dfe662009b4e2419e1b81c2f3dc41bc
https://doi.org/10.1210/jcem.85.11.6986

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Induction of Specific Phosphodiesterase Isoforms by Constitutive Activation of the cAMP Pathway in Autonomous Thyroid Adenomas1

Autor: Sebastiano Filetti, Giovanna Mantovani, Anna Spada, Marco Conti, Luca Persani, Luisella Alberti, Roberto Romoli, Andrea Lania

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 85:2872-2878

Thyrocytes largely depend on cAMP signaling for replication and differentiation. This pathway may be constitutively activated by mutations of the TSH receptor (TSHR) and Gsalpha in autonomous thyroid adenomas (ATAs). Because steady state cAMP results

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cebc6de7547059bac43dd0125fb4a6c7
https://doi.org/10.1210/jcem.85.8.6712

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Expression of Calcium-Sensing Receptor and Characterization of Intracellular Signaling in Human Pituitary Adenomas1

Autor: Sabrina Corbetta, Andrea Lania, Anna Spada, Luca Persani, Giovanna Mantovani, Roberto Romoli

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 84:2848-2853

Extracellular Ca2+-sensing receptor (CaSR) has been recently identified in rat and mouse pituitary and in AtT-20 cells. The aim of the study was to investigate the presence of CaSR in the human pituitary and its signaling pathway. Normal parathyroid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::38a513cd79211fa66714674c83536057
https://doi.org/10.1210/jcem.84.8.5922

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Changes in the Degree of Sialylation of Carbohydrate Chains Modify the Biological Properties of Circulating Thyrotropin Isoforms in Various Physiological and Pathological States1

Autor: S. Borgato, Luca Persani, C Asteria, Roberto Romoli, Paolo Beck-Peccoz, Alessandro Pizzocaro

Publikováno v: The Journal of Clinical Endocrinology & Metabolism. 83:2486-2492

Variation in asparagine-linked carbohydrate chains have a major impact on TSH biological properties. In particular, highly sialylated TSH is characterized by impaired intrinsic bioactivity and prolonged half-life. The aim of the present study was to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::57ad14b1ab174873c6b566045c48e34d
https://doi.org/10.1210/jcem.83.7.4970

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Serum FSH bioactivity and inhibin levels in patients with gonadotropin secreting and nonfunctioning pituitary adenomas

Autor: Anna Spada, Donatella Cortelazzi, Roberto Romoli, Luca Persani, Paolo Beck-Peccoz, S. Borgato

Publikováno v: Scopus-Elsevier

It has been reported that serum FSH bioactivity and inhibin levels can be used as markers of the presence of true gonadotropin-secreting pituitary adenoma (Gn-oma). To verify this hypothesis, we have investigated the bioactivity of FSH and serum inhi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaa3f60c6ff5f91544faff8c93bf3dda
https://doi.org/10.1007/bf03350773

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Mutations activantes des récepteurs des gonadotrophines

Autor: Paolo Beck-Peccoz, S. Borgato, Roberto Romoli, C Asteria, Luca Persani

Publikováno v: Archives de Pédiatrie. 5:S380-S384

The different types of activating mutations of LH and FSH receptors genes are described. They result in a constitutive permanent activation of the LH or FSH function responsible for functional disorders which is also observed in some ovarian tumours.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7e4fc333cf756e284e68ac776bd2baeb
https://doi.org/10.1016/s0929-693x(99)80195-x

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