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Journal Abstract Search

179 related items for PubMed ID: 10523019

  • 1. 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. PubMed ID: 10523019
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  • 3. A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.
    Zhang P, Jobert AS, Couvineau A, Silve C.
    J Clin Endocrinol Metab; 1998 Sep; 83(9):3365-8. PubMed ID: 9745456
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  • 5. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia.
    Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N.
    Endocrinology; 1998 Dec; 139(12):5255-8. PubMed ID: 9832466
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  • 6. 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. PubMed ID: 10487664
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  • 7. 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 05; 335(10):708-14. PubMed ID: 8703170
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  • 12. Tissue-specific transcription start sites and alternative splicing of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) receptor gene: a new PTH/PTHrP receptor splice variant that lacks the signal peptide.
    Joun H, Lanske B, Karperien M, Qian F, Defize L, Abou-Samra A.
    Endocrinology; 1997 Apr 05; 138(4):1742-9. PubMed ID: 9075739
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  • 16. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
    Schipani E, Kruse K, Jüppner H.
    Science; 1995 Apr 07; 268(5207):98-100. PubMed ID: 7701349
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  • 18. Expression of alternatively spliced isoforms of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger RNA in human kidney and bone cells.
    Jobert AS, Fernandes I, Turner G, Coureau C, Prie D, Nissenson RA, Friedlander G, Silve C.
    Mol Endocrinol; 1996 Sep 07; 10(9):1066-76. PubMed ID: 8885241
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  • 19. Further evidence for a novel receptor for amino-terminal parathyroid hormone-related protein on keratinocytes and squamous carcinoma cell lines.
    Orloff JJ, Kats Y, Urena P, Schipani E, Vasavada RC, Philbrick WM, Behal A, Abou-Samra AB, Segre GV, Jüppner H.
    Endocrinology; 1995 Jul 07; 136(7):3016-23. PubMed ID: 7789327
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