A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia-Reference-Cited by-同舟云学术

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A Pseudohypoparathyroidism Type Ia Patient with Normocalcemia

Published:2008 Issue:1 Volume:55 Page:169-173
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

TAMADA Yasuko¹²,KANDA Seiji¹³,SUZUKI Hiroko¹³,TAJIMA Toshihiro⁴,NISHIYAMA Toshimasa¹³

Affiliation:

1. Department of Public Health, Kansai Medical University

2. Department of Pediatrics, Matsubara Municipal Hospital

3. Regeneration Research Center for Intractable Diseases, Kansai Medical University

4. Department of Pediatrics, Hokkaido University School of Medicine

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://www.jstage.jst.go.jp/article/endocrj/55/1/55_K07E-019/_pdf

Reference17 articles.

1. 1. Ringel MD, Schwindinger WF, Levine MA (1996) Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine (Baltimore) 75: 171-184.

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

3. 3. Bastepe M, Juppner H. (2005) GNAS locus and pseudohypoparathyroidism. Horm Res 63: 65-74.

4. Mutations in Exon 7 of the GTP-Binding Protein Gs.ALPHA. Were Not a Common Cause of Pseudohypoparathyroidism with Albright's Hereditary Osteodystrophy in Japanese.

5. 5. de Nanclares GP, Fernandez-Rebollo E, Santin I, Garcia-Cuartero B, Gaztambide S, Menendez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Juppner H, Hiort O, Castano L, Bastepe M (2007) Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 92(6): 2370-2373.

Cited by 15 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. Cutaneous Calcified Mass of Foot in Pseudohypoparathyoidism: Case Report;Medicina;2024-04-04

2. Genotype-phenotype correlations in pseudohypoparathyroidism type 1a patients: a systemic review;European Journal of Endocrinology;2023-10-14

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

4. GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report;BMC Pediatrics;2022-08-04

5. Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene;Journal of Bone Metabolism;2021-02-28

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