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 *

202 related articles for article (PubMed ID: 26488942)

  • 1. Abnormal Methylation Status of the GNAS Exon 1A Region in Pseudohypohyperparathyroidism Combined With Turner Syndrome.
    Zhu J; Wang D; Ren A; Xing Y; Zhang D; Wei J; Yu N; Xing X; Ye S
    Am J Med Sci; 2015 Dec; 350(6):458-62. PubMed ID: 26488942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 95(2):765-71. PubMed ID: 20008020
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.
    Takatani R; Molinaro A; Grigelioniene G; Tafaj O; Watanabe T; Reyes M; Sharma A; Singhal V; Raymond FL; Linglart A; Jüppner H
    J Bone Miner Res; 2016 Apr; 31(4):796-805. PubMed ID: 26479409
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
    Jin HY; Lee BH; Choi JH; Kim GH; Kim JK; Lee JH; Yu J; Yoo JH; Ko CW; Lim HH; Chung HR; Yoo HW
    Clin Endocrinol (Oxf); 2011 Aug; 75(2):207-13. PubMed ID: 21521295
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.
    Romanet P; Osei L; Netchine I; Pertuit M; Enjalbert A; Reynaud R; Barlier A
    Pediatrics; 2015 Apr; 135(4):e1079-83. PubMed ID: 25802348
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib.
    Weinhaeusel A; Thiele S; Hofner M; Hiort O; Noehammer C
    Clin Chem; 2008 Sep; 54(9):1537-45. PubMed ID: 18617581
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.
    Mariot V; Maupetit-Méhouas S; Sinding C; Kottler ML; Linglart A
    J Clin Endocrinol Metab; 2008 Mar; 93(3):661-5. PubMed ID: 18182455
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
    Reyes M; Karaca A; Bastepe M; Gulcelik NE; Jüppner H
    Bone; 2017 Oct; 103():281-286. PubMed ID: 28711660
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib.
    Mantovani G; Bondioni S; Linglart A; Maghnie M; Cisternino M; Corbetta S; Lania AG; Beck-Peccoz P; Spada A
    J Clin Endocrinol Metab; 2007 Sep; 92(9):3738-42. PubMed ID: 17595244
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.
    Goto M; Yamamoto Y; Ishii M; Nakamura A; Sano S; Kagami M; Fukami M; Saito R; Araki S; Kubo K; Kawagoe R; Kawada Y; Kusuhara K
    Pediatr Int; 2016 Nov; 58(11):1229-1231. PubMed ID: 27882740
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
    Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler ML; Mäkitie O; Jüppner H
    J Bone Miner Res; 2017 Apr; 32(4):776-783. PubMed ID: 28084650
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.
    Huang S; He Y; Lin X; Sun S; Zheng F
    BMC Endocr Disord; 2022 Apr; 22(1):98. PubMed ID: 35410271
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.