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Year Number of Results
1991 1
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1997 4
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2000 4
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2002 2
2003 4
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2007 4
2008 1
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58 results

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Page 1
A comparative study of fibrous dysplasia and osteofibrous dysplasia with regard to Gsalpha mutation at the Arg201 codon: polymerase chain reaction-restriction fragment length polymorphism analysis of paraffin-embedded tissues.
Sakamoto A, Oda Y, Iwamoto Y, Tsuneyoshi M. Sakamoto A, et al. J Mol Diagn. 2000 May;2(2):67-72. doi: 10.1016/s1525-1578(10)60618-6. J Mol Diagn. 2000. PMID: 11272890 Free PMC article.
Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen during childhood or adolescence. ...Mutation of the alpha subunit of signal-transducing G proteins (Gsalpha), with an increase in cyclic aden …
Fibrous dysplasia and osteofibrous dysplasia are both benign fibro-osseous lesions of the bone and are generally seen d …
Using Digital Droplet Polymerase Chain Reaction to Detect the Mosaic GNAS Mutations in Whole Blood DNA or Circulating Cell-Free DNA in Fibrous Dysplasia and McCune-Albright Syndrome.
Romanet P, Philibert P, Fina F, Cuny T, Roche C, Ouafik L, Paris F, Reynaud R, Barlier A. Romanet P, et al. J Pediatr. 2019 Feb;205:281-285.e4. doi: 10.1016/j.jpeds.2018.09.070. Epub 2018 Nov 13. J Pediatr. 2019. PMID: 30442414
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not detectable in leukocytes by Sanger sequencing. Digital droplet polymerase chain reaction detects GNAS mutations in 7 of 12 …
The GNAS postzygotic mosaic activating mutations involved in fibrous dysplasia and McCune-Albright syndrome (MAS) are not dete …
A highly sensitive polymerase chain reaction method detects activating mutations of the GNAS gene in peripheral blood cells in McCune-Albright syndrome or isolated fibrous dysplasia.
Lietman SA, Ding C, Levine MA. Lietman SA, et al. J Bone Joint Surg Am. 2005 Nov;87(11):2489-94. doi: 10.2106/JBJS.E.00160. J Bone Joint Surg Am. 2005. PMID: 16264125
Polymerase chain reaction was performed in the presence and absence of PNA, and the polymerase chain reaction products were sequenced. In the absence of PNA, a strong 325 base-pair polymerase chain reaction band was g …
Polymerase chain reaction was performed in the presence and absence of PNA, and the polymerase chain r …
Identification of GNAS Variants in Circulating Cell-Free DNA from Patients with Fibrous Dysplasia/McCune Albright Syndrome.
Roszko KL, Guthrie L, Li X, Collins MT, de Castro LF, Boyce AM. Roszko KL, et al. J Bone Miner Res. 2023 Mar;38(3):443-450. doi: 10.1002/jbmr.4766. Epub 2023 Jan 24. J Bone Miner Res. 2023. PMID: 36593655 Free article.
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare mosaic bone and endocrine disorder. ...We explored the presence of GNAS p.R201 variants in blood circulating cell free DNA (ccfDNA) using sensitive techniques of digital droplet polymerase chain …
Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare mosaic bone and endocrine disorder. ...We explored the presence …
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone.
Candeliere GA, Roughley PJ, Glorieux FH. Candeliere GA, et al. Bone. 1997 Aug;21(2):201-6. doi: 10.1016/s8756-3282(97)00107-5. Bone. 1997. PMID: 9267696
To overcome the problems associated with the analysis of genomic mutations that may be present in low and variable yield throughout the body, a polymerase chain reaction (PCR)-based technique has been developed that allows the selective amplification of produ …
To overcome the problems associated with the analysis of genomic mutations that may be present in low and variable yield throughout the body …
Malignant transformation of fibrous dysplasia: A case report.
Hatano H, Morita T, Ariizumi T, Kawashima H, Ogose A. Hatano H, et al. Oncol Lett. 2014 Jul;8(1):384-386. doi: 10.3892/ol.2014.2082. Epub 2014 Apr 22. Oncol Lett. 2014. PMID: 24959281 Free PMC article.
Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations of the guanine nucleotide-binding protein alpha-subunit (GNAS) gene, which encodes the stimulatory alpha subunit of the G protein (G(s)alph …
Secondary osteosarcoma from fibrous dysplasia (FD) is very rare. The etiology of FD is linked to activating missense mutations …
Fibrous dysplasia of bone in the McCune-Albright syndrome: abnormalities in bone formation.
Riminucci M, Fisher LW, Shenker A, Spiegel AM, Bianco P, Gehron Robey P. Riminucci M, et al. Am J Pathol. 1997 Dec;151(6):1587-600. Am J Pathol. 1997. PMID: 9403710 Free PMC article.
In addition to cafe-au-lait pigmentation patterns and hyperendocrinopathies, fibrous dysplasia of bone is a major finding in the McCune-Albright syndrome. Activating missense mutations of the Gs alpha gene leading to overactivity of adenylyl cyclase have been identi …
In addition to cafe-au-lait pigmentation patterns and hyperendocrinopathies, fibrous dysplasia of bone is a major finding in t …
The diagnostic utility of the GNAS mutation in patients with fibrous dysplasia: meta-analysis of 168 sporadic cases.
Lee SE, Lee EH, Park H, Sung JY, Lee HW, Kang SY, Seo S, Kim BH, Lee H, Seo AN, Ahn G, Choi YL. Lee SE, et al. Hum Pathol. 2012 Aug;43(8):1234-42. doi: 10.1016/j.humpath.2011.09.012. Epub 2012 Jan 14. Hum Pathol. 2012. PMID: 22245114
To investigate the diagnostic utility of GNAS mutations in patients with fibrous dysplasia, we performed mutational analyses of histologically confirmed fibrous dysplasia and conducted a meta-analysis of the literature. We collected 48 cases of fibr …
To investigate the diagnostic utility of GNAS mutations in patients with fibrous dysplasia, we performed mutational analyses o …
Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations.
Hammami MM, al-Zahrani A, Butt A, Vencer LJ, Hussain SS. Hammami MM, et al. J Endocrinol Invest. 1997 Oct;20(9):552-8. doi: 10.1007/BF03348018. J Endocrinol Invest. 1997. PMID: 9413810
Several cases of sporadic primary hyperparathyroidism in association with fibrous dysplasia of the bone have been reported in the English literature. ...A 28-year-old male had primary hyperparathyroidism associated with polyostotic fibrous dysplasia …
Several cases of sporadic primary hyperparathyroidism in association with fibrous dysplasia of the bone have been reported in …
58 results