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Journal Abstract Search

336 related items for PubMed ID: 26819647

  • 1. Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.
    Rochtus A, Martin-Trujillo A, Izzi B, Elli F, Garin I, Linglart A, Mantovani G, Perez de Nanclares G, Thiele S, Decallonne B, Van Geet C, Monk D, Freson K.
    Clin Epigenetics; 2016; 8():10. PubMed ID: 26819647
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  • 3. Genetic and epigenetic states of the GNAS complex in pseudohypoparathyroidism type Ib using methylation-specific multiplex ligation-dependent probe amplification assay.
    Yuno A, Usui T, Yambe Y, Higashi K, Ugi S, Shinoda J, Mashio Y, Shimatsu A.
    Eur J Endocrinol; 2013 Feb; 168(2):169-75. PubMed ID: 23132697
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  • 4. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?
    Mantovani G, Elli FM, Spada A.
    Horm Metab Res; 2012 Sep; 44(10):716-23. PubMed ID: 22674477
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  • 5. A new approach to imprinting mutation detection in GNAS by Sequenom EpiTYPER system.
    Izzi B, Decallonne B, Devriendt K, Bouillon R, Vanderschueren D, Levtchenko E, de Zegher F, Van den Bruel A, Lambrechts D, Van Geet C, Freson K.
    Clin Chim Acta; 2010 Dec 14; 411(23-24):2033-9. PubMed ID: 20807523
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  • 7. A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.
    Hanna P, Francou B, Delemer B, Jüppner H, Linglart A.
    J Clin Endocrinol Metab; 2021 Aug 18; 106(9):2779-2787. PubMed ID: 33677588
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  • 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 18; 95(2):651-8. PubMed ID: 20061437
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  • 9. The GNAS locus and pseudohypoparathyroidism.
    Bastepe M.
    Adv Exp Med Biol; 2008 Feb 18; 626():27-40. PubMed ID: 18372789
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  • 10. Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.
    Maupetit-Méhouas S, Azzi S, Steunou V, Sakakini N, Silve C, Reynes C, Perez de Nanclares G, Keren B, Chantot S, Barlier A, Linglart A, Netchine I.
    Hum Mutat; 2013 Aug 18; 34(8):1172-80. PubMed ID: 23649963
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  • 11. Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.
    Izzi B, Van Geet C, Freson K.
    Curr Mol Med; 2012 Jun 18; 12(5):566-73. PubMed ID: 22300135
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  • 14. Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.
    Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
    J Clin Endocrinol Metab; 2016 Jul 18; 101(7):2623-7. PubMed ID: 27253667
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  • 15. Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus.
    Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akutsu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M.
    J Bone Miner Res; 2022 Oct 18; 37(10):1850-1859. PubMed ID: 35859320
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  • 19. A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B.
    Yang Y, Chu X, Nie M, Song A, Jiang Y, Li M, Xia W, Xing X, Wang O.
    Endocrine; 2020 Jul 18; 69(1):212-219. PubMed ID: 32337648
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  • 20. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.
    Fernandez-Rebollo E, García-Cuartero B, Garin I, Largo C, Martínez F, Garcia-Lacalle C, Castaño L, Bastepe M, Pérez de Nanclares G.
    J Clin Endocrinol Metab; 2010 Feb 18; 95(2):765-71. PubMed ID: 20008020
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