Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms-Reference-Cited by-同舟云学术

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

Published:2015-04 Issue:4 Volume:100 Page:E681-E687
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Garin Intza,Elli Francesca M.,Linglart Agnes,Silve Caroline,de Sanctis Luisa,Bordogna Paolo,Pereda Arrate,Clarke Joe T. R.,Kannengiesser Caroline,Coutant Regis,Tenebaum-Rakover Yardena,Admoni Osnat,de Nanclares Guiomar Perez,Mantovani Giovanna

Publisher

The Endocrine Society

Subject

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

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA;The Journal of Clinical Endocrinology & Metabolism;2023-09-05

2. Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families;Bone Reports;2022-12

3. Increased copy number of imprinted genes in the chromosomal region 20q11-q13.32 is associated with resistance to antitumor agents in cancer cell lines;Clinical Epigenetics;2022-12

4. PTH resistance;Molecular and Cellular Endocrinology;2021-07

5. Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications;The Journal of Clinical Endocrinology & Metabolism;2021-03-29