Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients-Reference-Cited by-同舟云学术

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

Published:2010-02-01 Issue:2 Volume:95 Page:651-658
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Mantovani Giovanna¹,de Sanctis Luisa²,Barbieri Anna Maria¹,Elli Francesca M.¹,Bollati Valentina³,Vaira Valentina⁴,Labarile Pamela¹,Bondioni Sara¹,Peverelli Erika¹,Lania Andrea G.¹,Beck-Peccoz Paolo¹,Spada Anna¹

Affiliation:

1. Department of Medical Sciences (G.M., A.M.B., P.L., F.M.E., S.B., E.P., A.G.L., P.B.-P., A.S.), Endocrinology and Diabetology Unit, Università degli Studi di Milano, Fondazione Ospedale Maggiore Policlinico Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20122 Milan, Italy

2. Department of Pediatrics (L.d.S.), University of Turin, Regina Margherita Children’s Hospital, 10126 Turin, Italy

3. Center of Molecular and Genetic Epidemiology (V.B.), Department of Environmental and Occupational Health, Università degli Studi di Milano and Fondazione Ospedale Maggiore Policlinico IRCCS, 20122 Milan, Italy

4. Department of Medicine (V.V.), Division of Pathology, Università degli Studi di Milano, AO San Paolo, and Fondazione Ospedale Maggiore Policlinico IRCCS, 20122 Milan, Italy.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/95/2/651/9066072/jcem0651.pdf

Reference32 articles.

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2. Mutations in the Gs α gene causing hormone resistance;Mantovani;Best Pract Res Clin Endocrinol Metab,2006

3. Activating and inactivating mutations in the human GNAS1 gene;Aldred;Hum Mutat,2000

4. G protein mutations in endocrine diseases;Lania;Eur J Endocrinol,2001

5. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs α gene;Mantovani;J Clin Endocrinol Metab,2003

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