These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

149 related items for PubMed ID: 20015054

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.
    Garavelli L, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis R, Banchini G.
    Acta Biomed; 2005 Apr; 76(1):45-8. PubMed ID: 16116826
    [Abstract] [Full Text] [Related]

  • 3. A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency.
    Thiele S, Werner R, Ahrens W, Hoppe U, Marschke C, Staedt P, Hiort O.
    J Clin Endocrinol Metab; 2007 May; 92(5):1764-8. PubMed ID: 17299070
    [Abstract] [Full Text] [Related]

  • 4. Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.
    Sun LH, Cui B, Zhao HY, Tao B, Wang WQ, Li XY, Ning G, Liu JM.
    Endocrine; 2009 Aug; 36(1):25-9. PubMed ID: 19381884
    [Abstract] [Full Text] [Related]

  • 5. Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.
    Thiele S, Werner R, Ahrens W, Hübner A, Hinkel KG, Höppner W, Igl B, Hiort O.
    Exp Clin Endocrinol Diabetes; 2010 Feb; 118(2):127-32. PubMed ID: 19658058
    [Abstract] [Full Text] [Related]

  • 6. [Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].
    Fölster-Holst R, Riepe FG, Ahrens W, Möller M, Brasch J, Partsch CJ, Hiort O, Sippell WG.
    Hautarzt; 2006 Oct; 57(10):893-7. PubMed ID: 16270203
    [Abstract] [Full Text] [Related]

  • 7. A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
    Mariot V, Maupetit-Méhouas S, Sinding C, Kottler ML, Linglart A.
    J Clin Endocrinol Metab; 2008 Mar; 93(3):661-5. PubMed ID: 18182455
    [Abstract] [Full Text] [Related]

  • 8. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.
    Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A.
    J Clin Endocrinol Metab; 2010 Feb; 95(2):651-8. PubMed ID: 20061437
    [Abstract] [Full Text] [Related]

  • 9. Images in clinical medicine. Albright's hereditary osteodystrophy.
    Rolla AR, Rodriguez-Gutierrez R.
    N Engl J Med; 2012 Dec 27; 367(26):2527. PubMed ID: 23268667
    [No Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15. No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
    Izzi B, de Zegher F, Francois I, del Favero J, Goossens D, Wittevrongel C, Thys C, Van Geet C, Freson K.
    J Hum Genet; 2012 Apr 27; 57(4):277-9. PubMed ID: 22277900
    [Abstract] [Full Text] [Related]

  • 16. Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.
    Klaassens M, Blom EW, Schrander JJ, Ris-Stalpers C, Nieuwenhuijzen Kruseman AC, van Steensel MA, Schrander-Stumpel CT.
    Br J Dermatol; 2010 Mar 27; 162(3):690-4. PubMed ID: 19863504
    [Abstract] [Full Text] [Related]

  • 17. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
    Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P, Spada A, Mantovani G.
    Hum Mutat; 2013 Mar 27; 34(3):411-6. PubMed ID: 23281139
    [Abstract] [Full Text] [Related]

  • 18. Minireview: GNAS: normal and abnormal functions.
    Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M.
    Endocrinology; 2004 Dec 27; 145(12):5459-64. PubMed ID: 15331575
    [Abstract] [Full Text] [Related]

  • 19. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification.
    Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ.
    Am J Med Genet A; 2008 Jul 15; 146A(14):1788-96. PubMed ID: 18553568
    [Abstract] [Full Text] [Related]

  • 20. [Genetic counseling in osteodystrophy Albright's syndrome. Part II. GNAS1 gene and encoded protein function, genetic forecast and treatment].
    Janusz L, Morawska J, Wasilewska E, Sierakowski S, Midro AT.
    Przegl Lek; 2010 Jul 15; 67(7):527-31. PubMed ID: 21387769
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.