Jüppner H - 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: juppner h. 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

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia.

Turan S, Aydin C, Bereket A, Akcay T, Güran T, Yaralioglu BA, Bastepe M, Jüppner H. Turan S, et al. Among authors: juppner h. Bone. 2010 Feb;46(2):402-9. doi: 10.1016/j.bone.2009.09.016. Epub 2009 Sep 29. Bone. 2010. PMID: 19796717 Free PMC article.

3

Patterns of FGF-23, DMP1, and MEPE expression in patients with chronic kidney disease.

Pereira RC, Juppner H, Azucena-Serrano CE, Yadin O, Salusky IB, Wesseling-Perry K. Pereira RC, et al. Among authors: juppner h. Bone. 2009 Dec;45(6):1161-8. doi: 10.1016/j.bone.2009.08.008. Epub 2009 Aug 11. Bone. 2009. PMID: 19679205 Free PMC article.

4

Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?

Fernández-Rebollo E, Pérez de Nanclares G, Lecumberri B, Turan S, Anda E, Pérez-Nanclares G, Feig D, Nik-Zainal S, Bastepe M, Jüppner H. Fernández-Rebollo E, et al. Among authors: juppner h. J Bone Miner Res. 2011 Aug;26(8):1854-63. doi: 10.1002/jbmr.408. J Bone Miner Res. 2011. PMID: 21523828 Free PMC article.

5

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Lorenz-Depiereux B, et al. Among authors: juppner h. Nat Genet. 2006 Nov;38(11):1248-50. doi: 10.1038/ng1868. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033625 Free PMC article.

6

Caffey disease: new perspectives on old questions.

Nistala H, Mäkitie O, Jüppner H. Nistala H, et al. Among authors: juppner h. Bone. 2014 Mar;60:246-51. doi: 10.1016/j.bone.2013.12.030. Epub 2013 Dec 31. Bone. 2014. PMID: 24389367 Free PMC article. Review.

7

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation.

Tenhola S, Voutilainen R, Reyes M, Toiviainen-Salo S, Jüppner H, Mäkitie O. Tenhola S, et al. Among authors: juppner h. Eur J Endocrinol. 2016 Sep;175(3):211-8. doi: 10.1530/EJE-16-0109. Epub 2016 Jun 22. Eur J Endocrinol. 2016. PMID: 27334330 Free PMC article.

8

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

Turan S, Akin L, Akcay T, Adal E, Sarikaya S, Bastepe M, Jüppner H. Turan S, et al. Among authors: juppner h. Eur J Endocrinol. 2010 Sep;163(3):489-93. doi: 10.1530/EJE-10-0348. Epub 2010 Jun 10. Eur J Endocrinol. 2010. PMID: 20538864 Free PMC article.

9

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation.

Bastepe M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Rev Endocr Metab Disord. 2008 Jun;9(2):171-80. doi: 10.1007/s11154-008-9075-3. Epub 2008 Mar 26. Rev Endocr Metab Disord. 2008. PMID: 18365315 Review.

10

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

Grigelioniene G, Nevalainen PI, Reyes M, Thiele S, Tafaj O, Molinaro A, Takatani R, Ala-Houhala M, Nilsson D, Eisfeldt J, Lindstrand A, Kottler ML, Mäkitie O, Jüppner H. Grigelioniene G, et al. Among authors: juppner h. J Bone Miner Res. 2017 Apr;32(4):776-783. doi: 10.1002/jbmr.3083. Epub 2017 Feb 24. J Bone Miner Res. 2017. PMID: 28084650 Free PMC article.

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

342 results

Search Page

Filters