Jüppner H - Search Results

1

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.

2

In situ localization of PTH/PTHrP receptor mRNA in the bone of fetal and young rats.

Lee K, Deeds JD, Bond AT, Jüppner H, Abou-Samra AB, Segre GV. Lee K, et al. Among authors: juppner h. Bone. 1993 May-Jun;14(3):341-5. doi: 10.1016/8756-3282(93)90162-4. Bone. 1993. PMID: 8395866

3

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.

4

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.

5

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.

6

Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib).

Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Jüppner H. Bastepe M, et al. Among authors: juppner h. Bone. 2011 Mar 1;48(3):659-62. doi: 10.1016/j.bone.2010.10.168. Epub 2010 Oct 19. Bone. 2011. PMID: 20965295 Free PMC article.

7

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.

Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C. Yu Y, et al. Among authors: juppner h. Bone. 2012 May;50(5):1100-6. doi: 10.1016/j.bone.2012.02.015. Epub 2012 Feb 24. Bone. 2012. PMID: 22387237 Free PMC article.

8

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

Korvala J, Jüppner H, Mäkitie O, Sochett E, Schnabel D, Mora S, Bartels CF, Warman ML, Deraska D, Cole WG, Hartikka H, Ala-Kokko L, Männikkö M. Korvala J, et al. Among authors: juppner h. BMC Med Genet. 2012 Apr 10;13:26. doi: 10.1186/1471-2350-13-26. BMC Med Genet. 2012. PMID: 22487062 Free PMC article.

9

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.

Korvala J, Löija M, Mäkitie O, Sochett E, Jüppner H, Schnabel D, Mora S, Cole WG, Ala-Kokko L, Männikkö M. Korvala J, et al. Among authors: juppner h. Eur J Med Genet. 2012 Oct;55(10):515-9. doi: 10.1016/j.ejmg.2012.06.011. Epub 2012 Jul 9. Eur J Med Genet. 2012. PMID: 22789636

10

Autosomal dominant hypophosphatemic rickets in an 85 year old woman: characterization of her disease from infancy through adulthood.

Seton M, Jüppner H. Seton M, et al. Among authors: juppner h. Bone. 2013 Feb;52(2):640-3. doi: 10.1016/j.bone.2012.11.012. Epub 2012 Nov 19. Bone. 2013. PMID: 23174215 Free PMC article.

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