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359 related items for PubMed ID: 11115848

  • 1. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.
    Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA.
    Hum Mol Genet; 2000 Dec 12; 9(20):3037-46. PubMed ID: 11115848
    [Abstract] [Full Text] [Related]

  • 2. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit (PRKAR1A) in patients with the "complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas" (Carney complex).
    Stratakis CA.
    Ann N Y Acad Sci; 2002 Jun 12; 968():3-21. PubMed ID: 12119264
    [Abstract] [Full Text] [Related]

  • 3. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex.
    Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA.
    Nat Genet; 2000 Sep 12; 26(1):89-92. PubMed ID: 10973256
    [Abstract] [Full Text] [Related]

  • 4. Carney complex: pathology and molecular genetics.
    Boikos SA, Stratakis CA.
    Neuroendocrinology; 2006 Sep 12; 83(3-4):189-99. PubMed ID: 17047382
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular genetics of Carney complex.
    Sandrini F, Stratakis C.
    Mol Genet Metab; 2003 Feb 12; 78(2):83-92. PubMed ID: 12666684
    [Abstract] [Full Text] [Related]

  • 6. Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours.
    Kaltsas GA, Kola B, Borboli N, Morris DG, Gueorguiev M, Swords FM, Czirják S, Kirschner LS, Stratakis CA, Korbonits M, Grossman AB.
    Clin Endocrinol (Oxf); 2002 Oct 12; 57(4):443-8. PubMed ID: 12354125
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  • 8. Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas.
    Perdigão PF, Stergiopoulos SG, De Marco L, Matyakhina L, Boikos SA, Gomez RS, Pimenta FJ, Stratakis CA.
    Genes Chromosomes Cancer; 2005 Oct 12; 44(2):204-11. PubMed ID: 16001434
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.
    Groussin L, Kirschner LS, Vincent-Dejean C, Perlemoine K, Jullian E, Delemer B, Zacharieva S, Pignatelli D, Carney JA, Luton JP, Bertagna X, Stratakis CA, Bertherat J.
    Am J Hum Genet; 2002 Dec 12; 71(6):1433-42. PubMed ID: 12424709
    [Abstract] [Full Text] [Related]

  • 10. Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.
    Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgiou T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA.
    Cancer Res; 2003 Sep 01; 63(17):5308-19. PubMed ID: 14500362
    [Abstract] [Full Text] [Related]

  • 11. Regulatory subunit type I-alpha of protein kinase A (PRKAR1A): a tumor-suppressor gene for sporadic thyroid cancer.
    Sandrini F, Matyakhina L, Sarlis NJ, Kirschner LS, Farmakidis C, Gimm O, Stratakis CA.
    Genes Chromosomes Cancer; 2002 Oct 01; 35(2):182-92. PubMed ID: 12203783
    [Abstract] [Full Text] [Related]

  • 12. [Carney complex].
    Losada Grande EJ, Al Kassam Martínez D, González Boillos M.
    Endocrinol Nutr; 2011 Oct 01; 58(6):308-14. PubMed ID: 21536508
    [Abstract] [Full Text] [Related]

  • 13. Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!
    Stergiopoulos SG, Stratakis CA.
    FEBS Lett; 2003 Jul 03; 546(1):59-64. PubMed ID: 12829237
    [Abstract] [Full Text] [Related]

  • 14. In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
    Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA.
    J Clin Endocrinol Metab; 2012 Mar 03; 97(3):E496-502. PubMed ID: 22205709
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  • 16. Clinical and molecular genetics of primary pigmented nodular adrenocortical disease.
    Sandrini F, Stratakis C.
    Arq Bras Endocrinol Metabol; 2004 Oct 03; 48(5):637-41. PubMed ID: 15761532
    [Abstract] [Full Text] [Related]

  • 17. Frequent protein kinase A regulatory subunit A1 mutations but no GNAS mutations as potential driver in sporadic cardiac myxomas.
    Zimpfer A, Abel LM, Alozie A, Etz CD, Schneider B.
    Cardiovasc Pathol; 2024 Oct 03; 71():107632. PubMed ID: 38492686
    [Abstract] [Full Text] [Related]

  • 18. PRKAR1A mutations in primary pigmented nodular adrenocortical disease.
    Cazabat L, Ragazzon B, Groussin L, Bertherat J.
    Pituitary; 2006 Oct 03; 9(3):211-9. PubMed ID: 17036196
    [Abstract] [Full Text] [Related]

  • 19. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
    Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA.
    J Clin Endocrinol Metab; 2009 Jun 03; 94(6):2085-91. PubMed ID: 19293268
    [Abstract] [Full Text] [Related]

  • 20. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
    Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J.
    J Clin Endocrinol Metab; 2006 May 03; 91(5):1943-9. PubMed ID: 16464939
    [Abstract] [Full Text] [Related]

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