BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

190 related articles for article (PubMed ID: 12147228)

  • 1. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
    Germain-Lee EL; Ding CL; Deng Z; Crane JL; Saji M; Ringel MD; Levine MA
    Biochem Biophys Res Commun; 2002 Aug; 296(1):67-72. PubMed ID: 12147228
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.
    Liu J; Erlichman B; Weinstein LS
    J Clin Endocrinol Metab; 2003 Sep; 88(9):4336-41. PubMed ID: 12970307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
    Weinstein LS; Yu S; Warner DR; Liu J
    Endocr Rev; 2001 Oct; 22(5):675-705. PubMed ID: 11588148
    [TBL] [Abstract][Full Text] [Related]  

  • 4. An update on the clinical and molecular characteristics of pseudohypoparathyroidism.
    Levine MA
    Curr Opin Endocrinol Diabetes Obes; 2012 Dec; 19(6):443-51. PubMed ID: 23076042
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
    Germain-Lee EL; Groman J; Crane JL; Jan de Beur SM; Levine MA
    J Clin Endocrinol Metab; 2003 Sep; 88(9):4059-69. PubMed ID: 12970262
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Gs(alpha) mutations and imprinting defects in human disease.
    Weinstein LS; Chen M; Liu J
    Ann N Y Acad Sci; 2002 Jun; 968():173-97. PubMed ID: 12119276
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
    Jan de Beur S; Ding C; Germain-Lee E; Cho J; Maret A; Levine MA
    Am J Hum Genet; 2003 Aug; 73(2):314-22. PubMed ID: 12858292
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
    Long DN; McGuire S; Levine MA; Weinstein LS; Germain-Lee EL
    J Clin Endocrinol Metab; 2007 Mar; 92(3):1073-9. PubMed ID: 17164301
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
    Liu J; Litman D; Rosenberg MJ; Yu S; Biesecker LG; Weinstein LS
    J Clin Invest; 2000 Nov; 106(9):1167-74. PubMed ID: 11067869
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic basis for resistance to parathyroid hormone.
    Levine MA; Germain-Lee E; Jan de Beur S
    Horm Res; 2003; 60 Suppl 3():87-95. PubMed ID: 14671404
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.
    Germain-Lee EL; Schwindinger W; Crane JL; Zewdu R; Zweifel LS; Wand G; Huso DL; Saji M; Ringel MD; Levine MA
    Endocrinology; 2005 Nov; 146(11):4697-709. PubMed ID: 16099856
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus.
    Li T; Vu TH; Zeng ZL; Nguyen BT; Hayward BE; Bonthron DT; Hu JF; Hoffman AR
    Genomics; 2000 Nov; 69(3):295-304. PubMed ID: 11056047
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Paternal GNAS mutations: Which phenotypes? What genetic counseling?].
    Kottler ML
    Ann Endocrinol (Paris); 2015 May; 76(2):105-9. PubMed ID: 25952723
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.
    Freson K; Izzi B; Jaeken J; Van Helvoirt M; Thys C; Wittevrongel C; de Zegher F; Van Geet C
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4844-9. PubMed ID: 18796523
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.
    Wu WI; Schwindinger WF; Aparicio LF; Levine MA
    J Biol Chem; 2001 Jan; 276(1):165-71. PubMed ID: 11029463
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations.
    Elli FM; de Sanctis L; Bollati V; Tarantini L; Filopanti M; Barbieri AM; Peverelli E; Beck-Peccoz P; Spada A; Mantovani G
    J Clin Endocrinol Metab; 2014 Mar; 99(3):E508-17. PubMed ID: 24423294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.