Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.

Calvi LM, Schipani E.

J Endocrinol Invest. 2000 Sep;23(8):545-54. Review.

PMID:
11021773
2.

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Jüppner H.

J Clin Endocrinol Metab. 1999 Sep;84(9):3052-7.

PMID:
10487664
3.

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.

Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H.

N Engl J Med. 1996 Sep 5;335(10):708-14.

4.

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.

J Clin Endocrinol Metab. 2004 Jul;89(7):3595-600.

PMID:
15240651
6.

Jansen's metaphyseal chondrodysplasia: a disorder due to a PTH/PTHrP receptor gene mutation.

Jüppner H.

Trends Endocrinol Metab. 1996 Jul;7(5):157-62.

PMID:
18406742
7.
8.

A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.

Schipani E, Kruse K, Jüppner H.

Science. 1995 Apr 7;268(5207):98-100.

PMID:
7701349
9.
10.

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C.

J Clin Invest. 1998 Jul 1;102(1):34-40.

11.

A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.

Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Löwik CW.

J Clin Endocrinol Metab. 1999 Oct;84(10):3713-20.

PMID:
10523019
12.

[Activating mutations of the parathyroid hormone and parathyroid hormone related peptide].

David L.

Arch Pediatr. 1998;5 Suppl 4:385S-389S. Review. French.

PMID:
9853089
13.

Functional properties of the PTH/PTHrP receptor.

Jüppner H.

Bone. 1995 Aug;17(2 Suppl):39S-42S. Review.

PMID:
8579896
14.

PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development.

Schipani E, Provot S.

Birth Defects Res C Embryo Today. 2003 Nov;69(4):352-62. Review.

PMID:
14745975
15.

Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasia.

Brown WW, Jüppner H, Langman CB, Price H, Farrow EG, White KE, McCormick KL.

J Clin Endocrinol Metab. 2009 Jan;94(1):17-20. doi: 10.1210/jc.2008-0220. Epub 2008 Oct 14.

16.
17.

Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia.

Nampoothiri S, Fernández-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, Jüppner H.

J Clin Endocrinol Metab. 2016 Nov;101(11):4283-4289. Epub 2016 Jul 13.

18.

Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases.

Jüppner H, Schipani E.

Curr Opin Nephrol Hypertens. 1996 Jul;5(4):300-6. Review.

PMID:
8823526
19.

[The PTH/PTHrP receptor: biological implications].

Ureña P.

Nefrologia. 2003;23 Suppl 2:12-7. Review. Spanish.

20.

Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.

Weir EC, Philbrick WM, Amling M, Neff LA, Baron R, Broadus AE.

Proc Natl Acad Sci U S A. 1996 Sep 17;93(19):10240-5.

Supplemental Content

Support Center