Isaac Levy

发表

Is IGSF1 involved in human pituitary tumor formation?

F. Faucz, E. Oldfield, C. Stratakis, 2015, Endocrine-related cancer.

Insulin-like growth factor 2 (IGF2) expression in adrenocortical disease due to PRKAR1A mutations compared to other benign adrenal tumors

F. Faucz, C. Stratakis, M. Almeida, 2021, Endocrine.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.

KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

D. Hoffman, M. de la Luz Sierra, C. Stratakis, 2012, Endocrine-related cancer.

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

J. Bertherat, C. Stratakis, A. Horvath, 2012, The Journal of clinical endocrinology and metabolism.

Clinical and molecular genetics of the phosphodiesterases (PDEs).

F. Faucz, C. Stratakis, A. Horvath, 2014, Endocrine reviews.

Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment.

C. Stratakis, A. Horvath, M. Azevedo, 2011, Current opinion in pharmacology.

A phosphodiesterase 11 (Pde11a) knockout mouse expressed functional but reduced Pde11a: Phenotype and impact on adrenocortical function

F. Faucz, C. Stratakis, Isaac Levy, 2020, Molecular and Cellular Endocrinology.

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase A.

F. Faucz, J. Bertherat, C. Stratakis, 2020, Endocrine-related cancer.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

F. Faucz, C. Stratakis, I. Holm, 2014, The Journal of clinical endocrinology and metabolism.

The cAMP pathway and the control of adrenocortical development and growth

C. Stratakis, E. Saloustros, P. Val, 2012, Molecular and Cellular Endocrinology.

A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.

C. Stratakis, A. Horvath, J. Carney, 2012, The Journal of clinical endocrinology and metabolism.

Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.

J. Lupski, J. Wess, P. Chanson, 2014, The New England journal of medicine.

SDHB immunohistochemistry: a useful tool in the diagnosis of Carney–Stratakis and Carney triad gastrointestinal stromal tumors

M. O'sullivan, W. Dinjens, E. Korpershoek, 2011, Modern Pathology.

Solid cystic and papillary tumor of the pancreas with oncocytic differentiation

J. Goldstein, D. Benharroch, E. Maor, 1994, Journal of surgical oncology.

Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment.

C. Stratakis, A. Horvath, M. Azevedo, 2011, Current opinion in pharmacology.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations.

J. Lupski, G. Braunstein, F. Faucz, 2015, European journal of endocrinology.

KCNJ 5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism : an infrequent genetic cause of Conn ’ s syndrome

D. Hoffman, C. Stratakis, E. Kebebew, 2012 .