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Pseudohypoparathyroidism. New insights into an old disease.
Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Endocrinol Metab Clin North Am. 2000 Sep;29(3):569-89. doi: 10.1016/s0889-8529(05)70151-1. Endocrinol Metab Clin North Am. 2000. PMID: 11033761 Review.
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.
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Jüppner H. Bastepe M, et al. Among authors: juppner h. Hum Mol Genet. 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. Hum Mol Genet. 2001. PMID: 11406605
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
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. Bastepe M, et al. Among authors: juppner h. J Clin Invest. 2003 Oct;112(8):1255-63. doi: 10.1172/JCI19159. J Clin Invest. 2003. PMID: 14561710 Free PMC article.
GNAS locus and pseudohypoparathyroidism.
Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 Feb 9. Horm Res. 2005. PMID: 15711092 Free article. Review.
338 results