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429 related items for PubMed ID: 12541184

  • 1. Albright's hereditary osteodystrophy and pseudohypoparathyroidism.
    Wilson LC, Hall CM.
    Semin Musculoskelet Radiol; 2002 Dec; 6(4):273-83. PubMed ID: 12541184
    [Abstract] [Full Text] [Related]

  • 2. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
    De Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scirè G, Crino A, Baroncelli GI, Salerno M, Di Maio S, Cappa M, Grosso S, Rigon F, Lala R, De Sanctis C, Dianzani I.
    Pediatr Res; 2003 May; 53(5):749-55. PubMed ID: 12621129
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  • 3. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy.
    de Nanclares GP, Fernández-Rebollo E, Santin I, García-Cuartero B, Gaztambide S, Menéndez E, Morales MJ, Pombo M, Bilbao JR, Barros F, Zazo N, Ahrens W, Jüppner H, Hiort O, Castaño L, Bastepe M.
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2370-3. PubMed ID: 17405843
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  • 4. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha.
    Mouallem M, Shaharabany M, Weintrob N, Shalitin S, Nagelberg N, Shapira H, Zadik Z, Farfel Z.
    Clin Endocrinol (Oxf); 2008 Feb; 68(2):233-9. PubMed ID: 17803690
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  • 5. [GNAS1 gene abnormality in pseudohypoparathyroidism I a].
    Ozono K.
    Clin Calcium; 2007 Aug; 17(8):1214-9. PubMed ID: 17660618
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  • 6. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations.
    Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A.
    J Clin Endocrinol Metab; 2000 Nov; 85(11):4243-8. PubMed ID: 11095461
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  • 7. The GNAS locus and pseudohypoparathyroidism.
    Bastepe M.
    Adv Exp Med Biol; 2008 Nov; 626():27-40. PubMed ID: 18372789
    [Abstract] [Full Text] [Related]

  • 8. Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.
    Yu D, Yu S, Schuster V, Kruse K, Clericuzio CL, Weinstein LS.
    J Clin Endocrinol Metab; 1999 Sep; 84(9):3254-9. PubMed ID: 10487696
    [Abstract] [Full Text] [Related]

  • 9. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance.
    Linglart A, Carel JC, Garabédian M, Lé T, Mallet E, Kottler ML.
    J Clin Endocrinol Metab; 2002 Jan; 87(1):189-97. PubMed ID: 11788646
    [Abstract] [Full Text] [Related]

  • 10. A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
    Klagge A, Jessnitzer B, Pfaeffle R, Stumvoll M, Fuhrer D.
    Exp Clin Endocrinol Diabetes; 2010 Oct; 118(9):586-90. PubMed ID: 19856255
    [Abstract] [Full Text] [Related]

  • 11. GNAS locus and pseudohypoparathyroidism.
    Bastepe M, Jüppner H.
    Horm Res; 2005 Oct; 63(2):65-74. PubMed ID: 15711092
    [Abstract] [Full Text] [Related]

  • 12. 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
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  • 17. [Clinical features of two cases of pseudohypoparathyroidism (ia and ib) and molecular analysis of GNAS].
    Domínguez García A, Castaño González LA, Pérez-Nanclares G, Quinteiro González S, Caballero Fernández E.
    An Pediatr (Barc); 2013 Nov; 79(5):319-24. PubMed ID: 23623851
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  • 20. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.
    Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K.
    J Clin Endocrinol Metab; 2001 Oct; 86(10):4630-4. PubMed ID: 11600516
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