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 *

193 related articles for article (PubMed ID: 33657695)

  • 1. [Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children].
    Xu XQ; Zhou XL; Chen XF; Yuan JN; Dai YL; Huang K; Dong GP; Wu W; Fu JF
    Zhonghua Er Ke Za Zhi; 2021 Mar; 59(3):206-211. PubMed ID: 33657695
    [No Abstract]   [Full Text] [Related]  

  • 2. Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.
    Chang G; Li Q; Li N; Li G; Li J; Ding Y; Huang X; Shen Y; Wang J; Wang X
    BMC Endocr Disord; 2022 Mar; 22(1):70. PubMed ID: 35296306
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.
    Han SR; Lee YA; Shin CH; Yang SW; Lim BC; Cho TJ; Ko JM
    Exp Clin Endocrinol Diabetes; 2021 Feb; 129(2):118-125. PubMed ID: 31546270
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.
    Elli FM; deSanctis L; Maffini MA; Bordogna P; Tessaris D; Pirelli A; Arosio M; Linglart A; Mantovani G
    Clin Epigenetics; 2019 Jan; 11(1):3. PubMed ID: 30616679
    [TBL] [Abstract][Full Text] [Related]  

  • 9. What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
    Pereda A; Garin I; ; Perez de Nanclares G
    BMC Med Genet; 2018 Mar; 19(1):32. PubMed ID: 29499646
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

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

  • 13. Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.
    Izzi B; Francois I; Labarque V; Thys C; Wittevrongel C; Devriendt K; Legius E; Van den Bruel A; D'Hooghe M; Lambrechts D; de Zegher F; Van Geet C; Freson K
    PLoS One; 2012; 7(6):e38579. PubMed ID: 22679513
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.
    Zhou Q; Liang B; Fu QX; Liu H; Zou CC
    Ital J Pediatr; 2022 Jul; 48(1):123. PubMed ID: 35871092
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A novel mutation in a case of pseudohypoparathyroidism type Ia.
    Kırel B; Demiral M; Bozdağ Ö; Karaer K
    Turk J Pediatr; 2016; 58(1):101-105. PubMed ID: 27922245
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. 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]  

  • 19. 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]  

  • 20. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
    Elli FM; deSanctis L; Ceoloni B; Barbieri AM; Bordogna P; Beck-Peccoz P; Spada A; Mantovani G
    Hum Mutat; 2013 Mar; 34(3):411-6. PubMed ID: 23281139
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.