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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

516 related articles for article (PubMed ID: 18372789)

  • 1. The GNAS locus and pseudohypoparathyroidism.
    Bastepe M
    Adv Exp Med Biol; 2008; 626():27-40. PubMed ID: 18372789
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

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

  • 4. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
    Bastepe M; Fröhlich LF; Hendy GN; Indridason OS; Josse RG; Koshiyama H; Körkkö J; Nakamoto JM; Rosenbloom AL; Slyper AH; Sugimoto T; Tsatsoulis A; Crawford JD; Jüppner H
    J Clin Invest; 2003 Oct; 112(8):1255-63. PubMed ID: 14561710
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Recent advances in GNAS epigenetic research of pseudohypoparathyroidism.
    Izzi B; Van Geet C; Freson K
    Curr Mol Med; 2012 Jun; 12(5):566-73. PubMed ID: 22300135
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular Definition of Pseudohypoparathyroidism Variants.
    Jüppner H
    J Clin Endocrinol Metab; 2021 May; 106(6):1541-1552. PubMed ID: 33529330
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus.
    Zazo C; Thiele S; Martín C; Fernandez-Rebollo E; Martinez-Indart L; Werner R; Garin I; ; Hiort O; Perez de Nanclares G
    J Bone Miner Res; 2011 Aug; 26(8):1864-70. PubMed ID: 21351142
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.
    Lecumberri B; Fernández-Rebollo E; Sentchordi L; Saavedra P; Bernal-Chico A; Pallardo LF; Bustos JM; Castaño L; de Santiago M; Hiort O; Pérez de Nanclares G; Bastepe M
    J Med Genet; 2010 Apr; 47(4):276-80. PubMed ID: 19858129
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pseudohypoparathyroidism: one gene, several syndromes.
    Tafaj O; Jüppner H
    J Endocrinol Invest; 2017 Apr; 40(4):347-356. PubMed ID: 27995443
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pseudohypoparathyroidism: complex disease variants with unfortunate names.
    Jüppner H
    J Mol Endocrinol; 2024 Jan; 72(1):. PubMed ID: 37965945
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.
    Jüppner H; Linglart A; Fröhlich LF; Bastepe M
    Ann N Y Acad Sci; 2006 Apr; 1068():250-5. PubMed ID: 16831926
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.
    Linglart A; Gensure RC; Olney RC; Jüppner H; Bastepe M
    Am J Hum Genet; 2005 May; 76(5):804-14. PubMed ID: 15800843
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16.
    Fröhlich LF; Bastepe M; Ozturk D; Abu-Zahra H; Jüppner H
    Endocrinology; 2007 Jun; 148(6):2925-35. PubMed ID: 17317779
    [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.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 26.