High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

Author:

Colson Cindy,Decamp Matthieu,Gruchy Nicolas,Coudray Nadia,Ballandonne Céline,Bracquemart Claire,Molin Arnaud,Mittre Hervé,Takatani Rieko,Jüppner Harald,Kottler Marie-Laure,Richard NicolasORCID

Funder

Direction de la recherche Clinique

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference45 articles.

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

2. The genetic basis of progressive osseous heteroplasia;Juppner;N. Engl. J. Med.,2002

3. Lebrun M, Richard N, Abeguile G et al: Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans. J. Clin. Endocrinol. Metab. 2010; 95: 3028–3038.

4. Jan de Beur S et al: Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia;Shore;N. Engl. J. Med.,2002

5. Hayward BE, Kamiya M, Strain L et al: The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl. Acad. Sci. U. S. A. 1998; 95: 10038–10043.

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