Jüppner H - Search Results

1

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib).

Molinaro A, Tiosano D, Takatani R, Chrysis D, Russell W, Koscielniak N, Kottler ML, Agretti P, De Marco G, Ahtiainen P, Christov M, Mäkitie O, Tonacchera M, Jüppner H. Molinaro A, et al. Among authors: juppner h. J Bone Miner Res. 2015 May;30(5):906-12. doi: 10.1002/jbmr.2408. J Bone Miner Res. 2015. PMID: 25403028 Free PMC article.

2

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. Jüppner H, et al. Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803. doi: 10.1073/pnas.95.20.11798. Proc Natl Acad Sci U S A. 1998. PMID: 9751745 Free PMC article.

3

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. Among authors: juppner h. 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.

4

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

5

Immunoassays for the detection of parathyroid hormone.

Jüppner H, Potts JT Jr. Jüppner H, et al. J Bone Miner Res. 2002 Nov;17 Suppl 2:N81-6. J Bone Miner Res. 2002. PMID: 12412782 Review.

6

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.

7

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: juppner h. J Clin Endocrinol Metab. 2004 Dec;89(12):5942-7. doi: 10.1210/jc.2004-0249. J Clin Endocrinol Metab. 2004. PMID: 15579741

8

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.

9

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.

Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. Linglart A, et al. Among authors: juppner h. Am J Hum Genet. 2005 May;76(5):804-14. doi: 10.1086/429932. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800843 Free PMC article.

10

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. Gensure RC, et al. Among authors: juppner h. J Clin Invest. 2005 May;115(5):1250-7. doi: 10.1172/JCI22760. J Clin Invest. 2005. PMID: 15864348 Free PMC article.

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