Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations-Reference-Cited by-同舟云学术

Quantitative Analysis of Methylation Defects and Correlation With Clinical Characteristics in Patients With Pseudohypoparathyroidism Type I and GNAS Epigenetic Alterations

Published:2014-03-01 Issue:3 Volume:99 Page:E508-E517
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Elli Francesca M.¹,de Sanctis Luisa²,Bollati Valentina³,Tarantini Letizia³,Filopanti Marcello¹,Barbieri Anna Maria¹,Peverelli Erika¹,Beck-Peccoz Paolo¹,Spada Anna¹,Mantovani Giovanna¹

Affiliation:

1. Department of Clinical Sciences and Community Health (F.M.E., M.F., A.M.B., E.P., P.B.-P., A.S., G.M.), 20122 Milan, Italy

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

3. Endocrinology and Diabetology Unit, University of Milan, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Ca' Granda Ospedale Maggiore Policlinico, and Center of Molecular and Genetic Epidemiology (V.B., L.T.), Department of Clinical Sciences and Community Health, Università di Milano and Fondazione Cà Granda Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Maggiore Po

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/99/3/E508/11158179/jcemE508.pdf

Reference32 articles.

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

3. Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting;Weinstein;Endocr Rev,2001

4. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism;Levine;Biochem Biophys Res Commun,1980

5. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib;Mantovani;J Clin Endocrinol Metab,2007

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5. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B;Bone;2022-04