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Items: 1 to 20 of 141

1.

Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.

Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T.

PLoS One. 2013;8(3):e60525. doi: 10.1371/journal.pone.0060525. Epub 2013 Mar 25.

3.

Searching for somatic mutations in McCune-Albright syndrome: a comparative study of the peptidic nucleic acid versus the nested PCR method based on 148 DNA samples.

Kalfa N, Philibert P, Audran F, Ecochard A, Hannon T, Lumbroso S, Sultan C.

Eur J Endocrinol. 2006 Dec;155(6):839-43.

4.

McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method.

Imanaka M, Iida K, Nishizawa H, Fukuoka H, Takeno R, Takahashi K, Kaji H, Takahashi Y, Okimura Y, Kaji H, Imanishi Y, Chihara K.

Intern Med. 2007;46(18):1577-83. Epub 2007 Sep 14.

5.

A novel technique based on a PNA hybridization probe and FRET principle for quantification of mutant genotype in fibrous dysplasia/McCune-Albright syndrome.

Karadag A, Riminucci M, Bianco P, Cherman N, Kuznetsov SA, Nguyen N, Collins MT, Robey PG, Fisher LW.

Nucleic Acids Res. 2004 Apr 19;32(7):e63.

6.

GNAS mutation detection is related to disease severity in girls with McCune-Albright syndrome and precocious puberty.

Wagoner HA, Steinmetz R, Bethin KE, Eugster EA, Pescovitz OH, Hannon TS.

Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:395-400.

PMID:
17982386
7.

Genetic and molecular aspects of McCune-Albright syndrome.

Lietman SA, Schwindinger WF, Levine MA.

Pediatr Endocrinol Rev. 2007 Aug;4 Suppl 4:380-5. Review.

PMID:
17982384
8.

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

Angelousi A, Fencl F, Faucz FR, Malikova J, Sumnik Z, Lebl J, Stratakis CA.

Hormones (Athens). 2015 Jul-Sep;14(3):447-50. doi: 10.14310/horm.2002.1578.

9.

Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: : GNAS-activating mutations in pancreatic carcinogenesis.

Parvanescu A, Cros J, Ronot M, Hentic O, Grybek V, Couvelard A, Levy P, Chanson P, Ruszniewski P, Sauvanet A, Gaujoux S.

JAMA Surg. 2014 Aug;149(8):858-62. doi: 10.1001/jamasurg.2014.535.

PMID:
24898823
10.

GNAS-activating mutations define a rare subgroup of inflammatory liver tumors characterized by STAT3 activation.

Nault JC, Fabre M, Couchy G, Pilati C, Jeannot E, Tran Van Nhieu J, Saint-Paul MC, De Muret A, Redon MJ, Buffet C, Salenave S, Balabaud C, Prevot S, Labrune P, Bioulac-Sage P, Scoazec JY, Chanson P, Zucman-Rossi J.

J Hepatol. 2012 Jan;56(1):184-91. doi: 10.1016/j.jhep.2011.07.018. Epub 2011 Aug 9.

PMID:
21835143
11.

Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, Bastepe M.

Bone. 2011 Feb;48(2):312-20. doi: 10.1016/j.bone.2010.09.032. Epub 2010 Sep 29.

12.

Genetics of McCune-Albright syndrome.

de Sanctis L, Delmastro L, Russo MC, Matarazzo P, Lala R, de Sanctis C.

J Pediatr Endocrinol Metab. 2006 May;19 Suppl 2:577-82. Review.

PMID:
16789620
13.

Gastrointestinal polyps in McCune Albright syndrome.

Zacharin M, Bajpai A, Chow CW, Catto-Smith A, Stratakis C, Wong MW, Scott R.

J Med Genet. 2011 Jul;48(7):458-61. doi: 10.1136/jmg.2010.086330. Epub 2011 Feb 28.

14.

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Wood LD, Noë M, Hackeng W, Brosens LA, Bhaijee F, Debeljak M, Yu J, Suenaga M, Singhi AD, Zaheer A, Boyce A, Robinson C, Eshleman JR, Goggins MG, Hruban RH, Collins MT, Lennon AM, Montgomery EA.

Virchows Arch. 2017 Apr;470(4):391-400. doi: 10.1007/s00428-017-2086-2. Epub 2017 Feb 10.

PMID:
28188442
15.

Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.

Turcic K, Tobar-Rubin R, Janevska D, Carroll J, Din E, Alvarez R, Haick J, Pals-Rylaarsdam R.

J Mol Endocrinol. 2014 Jun;52(3):321-31. doi: 10.1530/JME-13-0297.

PMID:
24850831
16.

Minireview: GNAS: normal and abnormal functions.

Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M.

Endocrinology. 2004 Dec;145(12):5459-64. Epub 2004 Aug 26. Review.

PMID:
15331575
17.

Hepatobiliary and Pancreatic neoplasms in patients with McCune-Albright syndrome.

Gaujoux S, Salenave S, Ronot M, Rangheard AS, Cros J, Belghiti J, Sauvanet A, Ruszniewski P, Chanson P.

J Clin Endocrinol Metab. 2014 Jan;99(1):E97-101. doi: 10.1210/jc.2013-1823. Epub 2013 Dec 20.

PMID:
24170100
18.

Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.

Vortmeyer AO, Gläsker S, Mehta GU, Abu-Asab MS, Smith JH, Zhuang Z, Collins MT, Oldfield EH.

J Clin Endocrinol Metab. 2012 Jul;97(7):2404-13. doi: 10.1210/jc.2012-1274. Epub 2012 May 7.

19.

Diagnostic value of investigating GNAS mutations in fibro-osseous lesions: a retrospective study of 91 cases of fibrous dysplasia and 40 other fibro-osseous lesions.

Tabareau-Delalande F, Collin C, Gomez-Brouchet A, Decouvelaere AV, Bouvier C, Larousserie F, Marie B, Delfour C, Aubert S, Rosset P, de Muret A, Pagès JC, de Pinieux G.

Mod Pathol. 2013 Jul;26(7):911-21. doi: 10.1038/modpathol.2012.223. Epub 2013 Feb 1.

20.

Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome
.

de Sanctis L, Galliano I, Montanari P, Matarazzo P, Tessaris D, Bergallo M.

Horm Res Paediatr. 2017;87(5):342-349. doi: 10.1159/000463384. Epub 2017 Mar 23.

PMID:
28334704

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