IntragenicGNASDeletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B-Reference-Cited by-同舟云学术

IntragenicGNASDeletion Involving Exon A/B in Pseudohypoparathyroidism Type 1A Resulting in an Apparent Loss of Exon A/B Methylation: Potential for Misdiagnosis of Pseudohypoparathyroidism Type 1B

Published:2010-02-01 Issue:2 Volume:95 Page:765-771
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Fernandez-Rebollo Eduardo¹²,García-Cuartero Beatriz³,Garin Intza¹⁴,Largo Cristina⁵,Martínez Francisco⁶,Garcia-Lacalle Concepcion⁷,Castaño Luis¹⁴⁸,Bastepe Murat²,Pérez de Nanclares Guiomar¹⁴

Affiliation:

1. Endocrinology and Diabetes Research Group (E.F.-R., I.G., L.C., G.P.d.N.), Hospital de Cruces, Barakaldo, Basque Country, 48903 Spain

2. Endocrine Unit (M.B., E.F.-R.), Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114

3. Pediatric Endocrinology (B.G.-C.), Hospital Leganés, 28911 Madrid, Spain

4. Centro de Investigación Biomédica en Red en Enfermedades Raras (I.G., L.C., G.P.d.N.), Barakaldo, 48903 Bizkaia, Spain

5. Genetadi Biotech (C.L.), Parque Tecnologico de Bizkaia, 48160 Derio, Spain

6. Unidad de Genetica y Diagnostico Prenatal (F.M.), Hospital Universitario La Fe, 46009 Valencia, Spain

7. Biochemistry (C.G.-L.), Hospital Leganés, 28911 Madrid, Spain

8. University of the Basque Country School of Medicine (L.C.), 48940 Bilbao, Spain

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/95/2/765/9066955/jcem0765.pdf

Reference28 articles.

1. Pseudohypoparathyroidsm: an example of “Seabright syndrome.”;Albright;Endocrinology,1942

2. Isolation and characterization of the human Gs alpha gene;Kozasa;Proc Natl Acad Sci USA,1988

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

4. Multihormonal resistance to parathyroid hormone, thyroid stimulating hormone, and other hormonal and neurosensory stimuli in patients with pseudohypoparathyroidism;Wemeau;J Pediatr Endocrinol Metab,2006

5. Mutations of the Gs α-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis;Weinstein;Proc Natl Acad Sci USA,1990

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