Pseudohypoparathyroidism

[1]. Agnès Linglart, et al. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002 Jan;87(1):189-97. [Content Brief]

[2]. Giovanna Mantovani, et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2007 Sep;92(9):3738-42. [Content Brief]

[3]. Harald Jüppner, et al. Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism. J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:641-6. [Content Brief]

[4]. J L Patten, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 1990 May 17;322(20):1412-9. [Content Brief]

[5]. Murat Bastepe, et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct;112(8):1255-63. [Content Brief]

[6]. Murat Bastepe, et al. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet. 2005 Jan;37(1):25-7. [Content Brief]

[7]. Murat Bastepe, et al. GNAS locus and pseudohypoparathyroidism. Horm Res. 2005;63(2):65-74. [Content Brief]

[8]. W I Wu, et al. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J Biol Chem. 2001 Jan 5;276(1):165-71. [Content Brief]