Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b-Reference-Cited by-同舟云学术

Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b

Published:2011 Issue:10 Volume:58 Page:879-887
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Kinoshita Kaori¹,Minagawa Masanori¹,Takatani Tomozumi¹,Takatani Rieko¹,Ohashi Mika¹,Kohno Yoichi¹

Affiliation:

1. Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba 260-8670, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/58/10/58_K10E-364/_pdf

Reference16 articles.

1. Endocrine Manifestations of Stimulatory G Protein -Subunit Mutations and the Role of Genomic Imprinting

2. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

3. 3. Liu J, Nealon JG, Weinstein LS (2005) Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet 14: 95-102.

4. 4. Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. (2001) Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 10: 1231-1241.

5. 5. Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H (2003) Autosomal dominant pseudohypoparathyroidism type 1b is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 112: 1255-1263.

Cited by 13 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. Pseudohypoparathyroidism;Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism;2018-09-28

2. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement;Nature Reviews Endocrinology;2018-06-29

3. A microwell-based near-infrared fluorescence assay of DNA methylation;Translational Cancer Research;2017-02

4. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia;Pediatrics International;2016-11

5. A sporadic case of pseudohypoparathyroidism type Ib;Revista Portuguesa de Endocrinologia, Diabetes e Metabolismo;2016-07