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See detailCyclin dependent kinase inhibitor (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenomas (FIPA) kindreds
Tichomirowa, M.; Lee, M.; Barlier, A. et al

in Endocrine-Related Cancer (2012), 19

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See detailGenetic screening for AIP mutations in Young patients with sporadic and Familial Pituitary Macroadenomas
Yaneva, M.; Elenkova, A.; Daly, Adrian ULg et al

in Endocrinologia = Endokrinologiia (2011), 16(1), 41-48

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See detailMutations AIP chez les jeunes patients en dessous de 30 ans avec adénome hypophysaire agressif
Beckers, Albert ULg; Tichomirowa, M.; Barlier, A. et al

in Annales d'Endocrinologie (2010, September), 71(5), 397

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See detailGenetics of Cushing's Syndrome
Yaneva, M.; Vandeva-Kalvacheva, Silvia ULg; Zacharieva, S. et al

in Neuroendocrinology (2010), 92((supp. 1)), 6-10

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often ... [more ▼]

Cushing's syndrome (CS) is characterized by pathologically elevated free glucocorticoid levels. Endogenous hypercortisolism is usually due to ACTH-secreting pituitary corticotropic adenomas and less often due to ectopic ACTH-secreting neuroendocrine neoplasms or ACTH-independent adrenal cortisol hypersecretion. CS is a serious chronic disease leading to a several-fold increase in cardiovascular morbidity and mortality. Multiple genetic alterations have been described in the setting of sporadic corticotropinoma formation. Changes in the expression profiles have been demonstrated in growth factors and their receptors, cell-cycle regulators and in various genes related to hormonal gene transcription, synthesis and secretion. Sporadic adrenal adenomas and carcinomas may demonstrate dysfunction in genes such as TP53 among others. Cushing's disease can be an inherited condition also. Multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenomas (FIPA) together account for 5% of pituitary adenomas. Cushing's disease occurs infrequently in an inherited setting in both of these conditions. To date only 2 cases of Cushing's disease have been described in association with mutations in AIP. One case of Cushing's disease has been reported as part of MEN4, a rare MEN1-like syndrome due to mutation in the CDKN1B gene. Carney complex (CNC) due to PRKAR1A mutations in most cases is associated with CS, mainly as a cause of bilateral adrenal hyperplasia. The cAMP signaling pathway is affected in this setting. In recent times the involvement of genes such as PDE11A, PDE8B and others have expanded the spectrum of the genetic pathophysiology of CS. [less ▲]

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See detailMutations AIP chez les jeunes patients en-dessous de 30 ans avec adénome hypophysaire agressif
Beckers, Albert ULg; Tichomirowa, M.; Barlier, A. et al

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

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See detailCyclin dependent kinase inhibitor 1B (CDKN1B) gene mutations in FIPA
Tichomirowa, M. A.; Pellegata, N. S.; Barlier, A. et al

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

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See detailHigh Prevalence of AIP Gene Mutations Following Focussed Screening in Young Patients with Sporadic Pituitary Macroadenomas
Tichomirowa, M. A.; Barlier, A.; Daly, Adrian ULg et al

in European Neuroendocrine Association - Liège, 22-25 septembre 2010 (2010, September)

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See detailCaractéristiques cliniques et réponses thérapeutiques des patients avec adénome hypophysaire mutés pour AIP : étude internationale sur 96 cas
Beckers, Albert ULg; Daly, Adrian ULg; Petrossians, Patrick ULg et al

in 27ème Congrès de la Société Française d'Endocrinologie - Deauville, 29 septembre - 2 octobre 2010 (2010, September)

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See detailHigh Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas
Tichomirova, M.; Daly, Adrian ULg; Jaffrain-Réa, M. L. et al

in 52 Symposium der Deutschen Gesellschaft für Endokrinologie (2009, March)

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See detailAn analysis of the role of cyclin dependant kinase inhibitor 1B (CDKN1B) gene mutations in 86 families with familial isolated pituitary adenomas (FIPA)
Tichomirova, M. A.; Daly, Adrian ULg; Pujol, Julien ULg et al

in The Endocrine Society's 91st Annual Meeting : 10-13 juin 2009, Washington (2009)

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See detailHigh Incidence of AIP mutations in sporadic pituitary adenomas in young patients with macroadenomas
Tichomirova, M. A.; Daly, Adrian ULg; Barlier, A. et al

in The Endocrine Society's 91st Annual Meeting : 10-13 juin 2009, Washington (2009)

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See detailAn International, Collaborative Study of the Disease Characteristics and Response to Therapy in 60 Pituitary Adenoma Patients with Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene Mutations
Daly, Adrian ULg; Tichomirowa, M. A.; Ebeling, T. M. L. et al

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

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See detailAryl Hydrocarbon Receptor interacting Protein Gene Mutations in Bulgarian FIPA and Young Sporadic Pituitary Adenoma Patients
Yaneva, M.; Daly, Adrian ULg; Tichomirowa, M. A. et al

in ENDO 2008: 90th Annual Meeting of the Endocrine Society - Abstract book (2008)

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