Три случая Карни-комплекса у детей: клинические и молекулярно-генетические особенности Карни-комплекса у детей (первое описание в России)
Аннотация
Об авторах
E OrlovaM Kareva
E Zakharova
G Poliakova
I Poddubnyĭ
K Tolstov
L Shiriaeva
M Melikian
N Kalinchenko
N Udalova
V Peterkova
Список литературы
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2. Bertherat J., Horvath A., Groussin L., Grabar S., Boikos S., Cazabat L., Libe R., René-Corail F., Stergiopoulos S., Bourdeau I., Bei T., Clauser E., Calender A., Kirschner L.S., Bertagna X., Carney J.A., Stratakis C.A. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 6: 2085-2091.
3. Stratakis C.A., Kirschner L.S. Clinical and genetic analysis of primary bilateral adrenal diseases (micro- and macronodular disease) leading to Cushing syndrome. Horm Metab Res 1998; 30: 6-7: 456-463.
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8. Stratakis C.A., Carney J.A., Lin J.P. et al. Carney complex, а familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996; 97: 699-705.
9. Casey M., Mah C., Merliss A.D. et al. Identification of a novel genetic locus for familialcardiac myxomas and carney complex. Circulation 1998; 98: 2560-2566.
10. Bertherat J., Horvath A., Groussin L., Grabar S., Boikos S., Cazabat L., Libe R., René-Corail F., Stergiopoulos S., Bourdeau I., Bei T., Clauser E., Calender A., Kirschner L.S., Bertagna X., Carney J.A., Stratakis C.A. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab 2009; 94: 6: 2085-2091.
11. Kirschner L.S., Carney J.A., Pack S.D. et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000; 26: 89-92.
12. Petersson F., Bulimbasic S., Sima R., Michal M., Hora M., Malagon H.D., Matoska J., Hes O. Large cell calcifying Sertoli cell tumor: a clinicopathologic study of 1 malignant and 3 benign tumors using histomorphology, immunohistochemistry, ultrastructure, comparative genomic hybridization, and polymerase chain reaction analysis of the PRKAR1A gene. Hum Pathol 2010; 41: 4: 552-559.
13. Gierke C.L., King B.F., Bostwick D.G., Choyke P.L., Hattery R.R. Large-cell calcifying Sertoli cell tumor of the testis: appearance at sonography. Am J Roentgenol 1994; 163: 2: 373-375.
Рецензия
Для цитирования:
, , , , , , , , , , Три случая Карни-комплекса у детей: клинические и молекулярно-генетические особенности Карни-комплекса у детей (первое описание в России). Проблемы Эндокринологии. 2012;58(5):50-56.
For citation:
Orlova E.M., Kareva M.A., Zakharova E.I., Poliakova G.A., Poddubnyĭ I.V., Tolstov K.N., Shiriaeva L.I., Melikian M.A., Kalinchenko N.I., Udalova N.V., Peterkova V.A. Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia). Problems of Endocrinology. 2012;58(5):50-56.