• Amit M, Collins MT, FitzGibbon EJ, Butman JA, Fliss DM, Gil Z. Surgery versus watchful waiting in patients with craniofacial fibrous dysplasia--a meta-analysis. PLoS One. 2011;6:e25179. [PMC free article]
  • Benhamou J, Gensburger D, Chapurlat R. Transient improvement of severe pain from fibrous dysplasia of bone with denosumab treatment. Joint Bone Spine. 2014;81:549–50. 
  • Bhattacharyya N, Wiench M, Dumitrescu C, Connolly BM, Bugge TH, Patel HV, Gafni RI, Cherman N, Cho M, Hager GL, Collins MT. Mechanism of FGF23 processing in fibrous dysplasia. J Bone Miner Res. 2012;27:1132–41. 
  • Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG. Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res. 2000;15:120–8. 
  • Boyce AM, Brewer C, DeKlotz TR, Zalewski CK, King KA, Collins MT, Kim HJ. Association of hearing loss and otologic outcomes with fibrous dysplasia. JAMA Otolaryngol Head Neck Surg. 2018;144:102–7. [PMC free article] 
  • Boyce AM, Chong WH, Shawker TH, Pinto PA, Linehan WM, Bhattacharryya N, Merino MJ, Singer FR, Collins MT. Characterization and management of testicular pathology in McCune-Albright syndrome. J Clin Endocrinol Metab. 2012a;97:E1782–90. [PMC free article] 
  • Boyce AM, Chong WH, Yao J, Gafni RI, Kelly MH, Chamberlain CE, Bassim C, Cherman N, Ellsworth M, Kasa-Vubu JZ, Farley FA, Molinolo AA, Bhattacharyya N, Collins MT. Denosumab treatment for fibrous dysplasia. J Bone Miner Res. 2012b;27:1462–70. [PMC free article] 
  • Boyce AM, Glover M, Kelly MH, Brillante BA, Butman JA, Fitzgibbon EJ, Brewer CC, Zalewski CK, Cutler Peck CM, Kim HJ, Collins MT. Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. J Clin Endocrinol Metab. 2013;98:E126–34. [PMC free article] 
  • Boyce AM, Kelly MH, Brillante BA, Kushner H, Wientroub S, Riminucci M, Bianco P, Robey PG, Collins MT. A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone. J Clin Endocrinol Metab. 2014;99:4133–40. [PMC free article] 
  • Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010;95:1508–15. [PMC free article] 
  • Carney JA, Young WF, Stratakis CA. Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome. Am J Surg Pathol. 2011;35:1311–26. [PMC free article] 
  • Celi FS, Coppotelli G, Chidakel A, Kelly M, Brillante BA, Shawker T, Cherman N, Feuillan PP, Collins MT. The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab. 2008;93:2383–9. [PMC free article] 
  • Clark TJ, Tan BK, Kennedy CR. Asynchronous ovarian torsion in a patient with McCune-Albright syndrome. J Obstet Gynaecol. 2000;20:204. 
  • Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, Wientroub S, Bianco P, Robey PG. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res. 2001;16:806–13. 
  • Collins MT, Kushner H, Reynolds JC, Chebli C, Kelly MH, Gupta A, Brillante B, Leet AI, Riminucci M, Robey PG, Bianco P, Wientroub S, Chen CC. An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone. J Bone Miner Res. 2005;20:219–26. 
  • Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, Guthrie LC, Bonat S, Robey PG, Shenker A. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003;88:4413–7. 
  • Collins MT, Singer FR, Eugster E. McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia. 2012. Orphanet J Rare Dis. [PMC free article] 
  • Cox JL, Cushman-Vokoun AM, McGarry SV, Kozel JA. Two cases of Mazabraud syndrome and identification of a GNAS R201H mutation by next-generation sequencing. Virchows Arch. 2017;470:589–93. 
  • Cutler CM, Lee JS, Butman JA, FitzGibbon EJ, Kelly MH, Brillante BA, Feuillan P, Robey PG, DuFresne CR, Collins MT. Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery. 2006;59:1011–7. 
  • de Sanctis L, Galliano I, Montanari P, Matarazzo P, Tessaris D, Bergallo M. Combining real-time COLD- and MAMA-PCR TaqMan techniques to detect and quantify R201 GNAS mutations in the McCune-Albright syndrome. Horm Res Paediatr. 2017;87:342–9.
  • Estrada A, Boyce AM, Brillante BA, Guthrie LC, Gafni RI, Collins MT. Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. Eur J Endocrinol. 2016;175:477–83. [PMC free article] 
  • Eugster EA, Rubin SD, Reiter EO, Plourde P, Jou HC, Pescovitz OH. Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. J Pediatr. 2003;143:60–6. 
  • Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT. Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab. 2007;92:2100–6. 
  • Florenzano P, Pan KS, Brown SM, Paul SM, Kushner H, Guthrie LC, de Castro LF, Collins MT, Boyce AM. Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone. J Bone Miner Res. 2019 Apr;34(4):653-660. 
  • Ganda K, Seibel MJ. Rapid biochemical response to denosumab in fibrous dysplasia of bone: report of two cases. Osteoporos Int. 2014;25:777–82. 
  • Gaujoux S, Salenave S, Ronot M, Rangheard AS, Cros J, Belghiti J, Sauvanet A, Ruszniewski P, Chanson P. Hepatobiliary and pancreatic neoplasms in patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99:E97–101. 
  • Hansen MR, Moffat JC. Osteosarcoma of the skull base after radiation therapy in a patient with McCune-Albright syndrome: case report. Skull Base. 2003;13:79–83. [PMC free article] 
  • Hart ES, Kelly MH, Brillante B, Chen CC, Ziran N, Lee JS, Feuillan P, Leet AI, Kushner H, Robey PG, Collins MT. Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007;22:1468–74. 
  • Idowu BD, Al-Adnani M, O'Donnell P, Yu L, Odell E, Diss T, Gale RE, Flanagan AM. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology. 2007;50:691–704. 
  • Ikawa Y, Yachi Y, Inoue N, Kato A, Okajima M, Yachie A. Neonatal McCune-Albright syndrome with giant cell hepatitis. J Pediatr. 2016;178:298. 
  • Kalfa N, Philibert P, Audran F, Ecochard A, Hannon T, Lumbroso S, Sultan C. 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. Eur J Endocrinol. 2006;155:839–43. 
  • Katznelson L, Laws ER Jr, Melmed S, Molitch ME, Murad MH, Utz A, Wass JA. Acromegaly: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99:3933–51. 
  • Kelly MH, Brillante B, Collins MT. Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporos Int. 2008;19:57–63. 
  • Kelly MH, Brillante B, Kushner H, Gehron Robey P, Collins MT. Physical function is impaired but quality of life preserved in patients with fibrous dysplasia of bone. Bone. 2005;37:388–94. 
  • Kuznetsov SA, Cherman N, Riminucci M, Collins MT, Robey PG, Bianco P. Age-dependent demise of GNAS-mutated skeletal stem cells and "normalization" of fibrous dysplasia of bone. J Bone Miner Res. 2008;23:1731–40. [PMC free article] 
  • Lala R, Andreo M, Pucci A, Matarazzo P. Persistent hyperestrogenism after precocious puberty in young females with McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007;4 Suppl 4:423–8. 
  • Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. 1989;340:692–6. 
  • Lawless ST, Reeves G, Bowen JR. The development of thyroid storm in a child with McCune-Albright syndrome after orthopedic surgery. Am J Dis Child. 1992;146:1099–102. 
  • Lee JS, FitzGibbon EJ, Chen YR, Kim HJ, Lustig LR, Akintoye SO, Collins MT, Kaban LB. Clinical guidelines for the management of craniofacial fibrous dysplasia. Orphanet J Rare Dis. 2012;7 Suppl 1:S2. [PMC free article] 
  • Lee JS, FitzGibbon E, Butman JA, Dufresne CR, Kushner H, Wientroub S, Robey PG, Collins MT. Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med. 2002;347:1670–6. 
  • Leet AI, Boyce AM, Ibrahim KA, Wientroub S, Kushner H, Collins MT. Bone-grafting in polyostotic fibrous dysplasia. J Bone Joint Surg Am. 2016;98:211–9. [PMC free article]
  • Leet AI, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, Robey PG, Bianco P, Wientroub S, Collins MT. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. 2004a;19:571–7. 
  • Leet AI, Magur E, Lee JS, Wientroub S, Robey PG, Collins MT. Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis. J Bone Joint Surg Am. 2004b;86-A(3):531–7. 
  • Lim YH, Ovejero D, Sugarman JS, Deklotz CM, Maruri A, Eichenfield LF, Kelley PK, Jüppner H, Gottschalk M, Tifft CJ, Gafni RI, Boyce AM, Cowen EW, Bhattacharyya N, Guthrie LC, Gahl WA, Golas G, Loring EC, Overton JD, Mane SM, Lifton RP, Levy ML, Collins MT, Choate KA. Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia. Hum Mol Genet. 2014;23:397–407. [PMC free article] 
  • Liu F, Li W, Yao Y, Li G, Yang Y, Dou W, Zhong D, Wang L, Zhu X, Hu H, Zhang J, Wang R, Chen G. A case of McCune-Albright syndrome associated with pituitary GH adenoma: therapeutic process and autopsy. J Pediatr Endocrinol Metab. 2011;24:283–7. 
  • Lumbroso S, Paris F, Sultan C., European Collaborative Study. Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. J Clin Endocrinol Metab. 2004;89:2107–13. 
  • Mahdi AJ, Connor P, Thakur I. McCune-Albright syndrome-associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia. Br J Haematol. 2017;178:179. 
  • Majoor BC, Boyce AM, Bovée JV, Smit VT, Collins MT, Cleton-Jansen AM, Dekkers OM, Hamdy NA, Dijkstra PS, Appelman-Dijkstra NM. Increased risk of breast cancer at a young age in women with fibrous dysplasia. J Bone Miner Res. 2018a;33:84–90. 
  • Majoor BCJ, Andela CD, Quispel CR. Rotman M2, Dijkstra PDS, Hamdy NAT, Kaptein AA, Appelman-Dijkstra NM. Illness perceptions are associated with quality of life in patients with fibrous dysplasia. Calcif Tissue Int. 2018b;102:23–31. [PMC free article] 
  • Mancini F, Corsi A, De Maio F, Riminucci M, Ippolito E. Scoliosis and spine involvement in fibrous dysplasia of bone. Eur Spine J. 2009;18:196–202. [PMC free article] 
  • Manjila S, Zender CA, Weaver J, Rodgers M, Cohen AR. Aneurysmal bone cyst within fibrous dysplasia of the anterior skull base: continued intracranial extension after endoscopic resections requiring craniofacial approach with free tissue transfer reconstruction. Childs Nerv Syst. 2013;29:1183–92. 
  • Mariot V, Wu JY, Aydin C, Mantovani G, Mahon MJ, Linglart A, Bastepe M. 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. Bone. 2011;48:312-20. [PMC free article] 
  • Narumi S, Matsuo K, Ishii T, Tanahashi Y, Hasegawa T. Quantitative and sensitive detection of GNAS mutations causing McCune-Albright syndrome with next generation sequencing. PLoS One. 2013;8:e60525. [PMC free article] 
  • Ovejero D, Lim YH, Boyce AM, Gafni RI, McCarthy E, Nguyen TA, Eichenfield LF, DeKlotz CM, Guthrie LC, Tosi LL, Thornton PS, Choate KA, Collins MT. Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. Osteoporos Int. 2016;27:3615–26. 
  • Parvanescu A, Cros J, Ronot M, Hentic O, Grybek V, Couvelard A, Levy P, Chanson P, Ruszniewski P, Sauvanet A, Gaujoux S. Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess. JAMA Surg. 2014;149:858–62. 
  • Paul SM, Gabor LR, Rudzinski S, Giovanni D, Boyce AM, Kelly MR, Collins MT. Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia. Bone. 2014;60:41–7. [PMC free article] 
  • Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003;112:683–92. [PMC free article] 
  • Robinson C, Boyce AM, Estrada A, Kleiner DE, Mathew R, Stanton R, Frangoul H, Collins MT. Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome. Osteoporos Int. 2018;29:237–41. 
  • Ross DS, Burch HB, Cooper DS, Greenlee MC, Laurberg P, Maia AL, Rivkees SA, Samuels M, Sosa JA, Stan MN, Walter MA. 2016 American Thyroid Association guidelines for diagnosis and management of hyperthyroidism and other causes of thyrotoxicosis. Thyroid. 2016;26:1343–1421. 
  • Ruggieri P, Sim FH, Bond JR, Unni KK. Malignancies in fibrous dysplasia. Cancer. 1994;73:1411–24. 
  • Salenave S, Boyce AM, Collins MT, Chanson P. Acromegaly and McCune-Albright syndrome. J Clin Endocrinol Metab. 2014;99:1955–69. [PMC free article] 
  • Silva ES, Lumbroso S, Medina M, Gillerot Y, Sultan C, Sokal EM. Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis. J Hepatol. 2000;32:154–8. 
  • Stanton RP, Ippolito E, Springfield D, Lindaman L, Wientroub S, Leet A. The surgical management of fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7 Suppl 1:S1. [PMC free article] 
  • Tanaka M, Fernández-del Castillo C, Adsay V, Chari S, Falconi M, Jang JY, Kimura W, Levy P, Pitman MB, Schmidt CM, Shimizu M, Wolfgang CL, Yamaguchi K, Yamao K., et al. International consensus guidelines 2012 for the management of IPMN and MCN of the pancreas. Pancreatology. 2012;12:183–97. 
  • Tessaris D, Corrias A, Matarazzo P, De Sanctis L, Wasniewska M, Messina MF, Vigone MC, Lala R. Thyroid abnormalities in children and adolescents with McCune-Albright syndrome. Horm Res Paediatr. 2012a;78:151–7. 
  • Tessaris D, Matarazzo P, Mussa A, Tuli G, Verna F, Fiore L, Lala R. Combined treatment with bicalutamide and anastrazole in a young boy with peripheral precocious puberty due to McCune-Albright Syndrome. Endocr J. 2012b;59:111–17. 
  • Vortmeyer AO, Gläsker S, Mehta GU, Abu-Asab MS, Smith JH, Zhuang Z, Collins MT, Oldfield EH. Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2012;97:2404–13. [PMC free article] 
  • Weinstein LS, Liu J, Sakamoto A, Xie T, Chen M. Minireview: GNAS: normal and abnormal functions. Endocrinology. 2004;145:5459–64. 
  • 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. Patientes with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas. Virchows Arch. 2017;470:391–400. [PMC free article] 
  • Wood LD, Parsons DW, Jones S, Lin J, Sjöblom T, Leary RJ, Shen D, Boca SM, Barber T, Ptak J, Silliman N, Szabo S, Dezso Z, Ustyanksky V, Nikolskaya T, Nikolsky Y, Karchin R, Wilson PA, Kaminker JS, Zhang Z, Croshaw R, Willis J, Dawson D, Shipitsin M, Willson JK, Sukumar S, Polyak K, Park BH, Pethiyagoda CL, Pant PV, Ballinger DG, Sparks AB, Hartigan J, Smith DR, Suh E, Papadopoulos N, Buckhaults P, Markowitz SD, Parmigiani G, Kinzler KW, Velculescu VE, Vogelstein B. The genomic landscapes of human breast and colorectal cancers. Science. 2007;318:1108–13. 

 


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