Bastepe M - Search Results

1

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H. Mäkitie O, et al. Among authors: bastepe m. J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105. J Bone Miner Res. 2010. PMID: 20499351 Free PMC article.

2

The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesis.

Iwasaki Y, Aksu C, Reyes M, Ay B, He Q, Bastepe M. Iwasaki Y, et al. Among authors: bastepe m. J Clin Invest. 2023 Apr 17;133(8):e167953. doi: 10.1172/JCI167953. J Clin Invest. 2023. PMID: 36853809 Free PMC article.

3

Identification and characterization of two new, highly polymorphic loci adjacent to GNAS1 on chromosome 20q13.3.

Bastepe M, Jüppner H. Bastepe M, et al. Mol Cell Probes. 2000 Aug;14(4):261-4. doi: 10.1006/mcpr.2000.0308. Mol Cell Probes. 2000. PMID: 10970731

4

Pseudohypoparathyroidism. New insights into an old disease.

Bastepe M, Jüppner H. Bastepe M, et al. 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.

5

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

Bastepe M, Lane AH, Jüppner H. Bastepe M, et al. Am J Hum Genet. 2001 May;68(5):1283-9. doi: 10.1086/320117. Epub 2001 Apr 9. Am J Hum Genet. 2001. PMID: 11294659 Free PMC article.

6

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. Hum Mol Genet. 2001 Jun 1;10(12):1231-41. doi: 10.1093/hmg/10.12.1231. Hum Mol Genet. 2001. PMID: 11406605

7

Editorial: Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation.

Bastepe M, Jüppner H. Bastepe M, et al. J Clin Endocrinol Metab. 2003 Sep;88(9):4055-8. doi: 10.1210/jc.2003-031271. J Clin Endocrinol Metab. 2003. PMID: 12970261 Review. No abstract available.

8

A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation.

Bastepe M, Raas-Rothschild A, Silver J, Weissman I, Wientroub S, Jüppner H, Gillis D. Bastepe M, et al. J Clin Endocrinol Metab. 2004 Jul;89(7):3595-600. doi: 10.1210/jc.2004-0036. J Clin Endocrinol Metab. 2004. PMID: 15240651

9

Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.

Laspa E, Bastepe M, Jüppner H, Tsatsoulis A. Laspa E, et al. Among authors: bastepe m. J Clin Endocrinol Metab. 2004 Dec;89(12):5942-7. doi: 10.1210/jc.2004-0249. J Clin Endocrinol Metab. 2004. PMID: 15579741

10

GNAS locus and pseudohypoparathyroidism.

Bastepe M, Jüppner H. Bastepe M, et al. Horm Res. 2005;63(2):65-74. doi: 10.1159/000083895. Epub 2005 Feb 9. Horm Res. 2005. PMID: 15711092 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

96 results

Search Page

Filters