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关键词:
- 原发性双侧肾上腺大结节样增生 /
- 库欣综合征 /
- ARMC5 /
- 脑膜瘤
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[2] De Venanzi A,Alencar G A,Bourdeau I,et al.Primary bilateral macronodular adrenal hyperplasia[J].Curr Opin Endocrinol Diabetes Obes,2014,21(3):177-184.
[3] Vezzosi D,Cartier D,Regnier C,et al.Familial adrenocorticotropin-independent macronodular adrenal hyperplasia with aberrant serotonin and vasopressin adrenal receptors[J].Eur J Endocrinol,2007,156(1):21-31.
[4] Assie G,Libe R,Espiard S,et al.ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome[J].N Engl J Med,2013,369(22):2105-2114.
[5] Elbelt U,Trovato A,Kloth M,et al.Molecular and clinical evidence for an ARMC5 tumor syndrome:concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma[J].J Clin Endocrinol Metab,2015,100(1):E119-E128.
[6] Faucz F R,Zilbermint M,Lodish M B,et al.Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5(ARMC5)gene:a clinical and genetic investigation[J].J Clin Endocrinol Metab,2014,99(6):E1113-E1119.
[7] Espiard S,Drougat L,Libe R,et al.ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia:Clinical and Functional Consequences[J].J Clin Endocrinol Metab,2015,100(6):E926-E935.
[8] Berthon A,Faucz F,Bertherat J,et al.Analysis of ARMC5 expression in human tissues[J].Mol Cell Endocrinol,2017,441:140-145.
[9] Alencar GA,Lerario AM,Nishi MY,et al.ARMC5 mutations are a frequent cause of primary macronodular adrenal Hyperplasia[J].J Clin Endocrinol Metab,2014,99(8):E1501-E1509.
[10] Lebrethon MC,Avallet O,Reznik Y,et al.Food-dependent Cushing's syndrome:characterization and functional role of gastric inhibitory polypeptide receptor in the adrenals of three patients[J].J Clin Endocrinol Metab,1998,83(12):4514-4519.
[11] Lacroix A,Baldacchino V,Bourdeau I,et al.Cushing's syndrome variants secondary to aberrant hormone receptors[J].Trends Endocrinol Metab,2004,15(8):375-382.
[12] Lacroix A,Ndiaye N,Tremblay J,et al.Ectopic and abnormal hormone receptors in adrenal Cushing's syndrome[J].Endocr Rev,2001,22(1):75-110.
[13] Bourdeau I,D'Amour P,Hamet P,et al.Aberrant membrane hormone receptors in incidentally discovered bilateral macronodular adrenal hyperplasia with subclinical Cushing's syndrome[J].J Clin Endocrinol Metab,2001,86(11):5534-5540.
[14] Mircescu H,Jilwan J,N'Diaye N,et al.Are ectopic or abnormal membrane hormone receptors frequently present in adrenal Cushing's syndrome?[J].J Clin Endocrinol Metab,2000,85(10):3531-3536.
[15] Bertagna X,Groussin L,Luton J P,et al.Aberrant receptor-mediated Cushing's syndrome[J].Horm Res,2003,59 Suppl 1:99-103.
[16] Louiset E,Duparc C,Young J,et al.Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia[J].N Engl J Med,2013,369(22):2115-2125.
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