Isabelle Bourdeau

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (<i>PRKAR1A</i>): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Jérôme Bertherat, Anélia Horvath, Lionel Groussin et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 432 citations · Full text

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

Luis Jaime Castro‐Vega, Alexandre Buffet, Aguirre A. de Cubas et al. · Human Molecular Genetics · 2013 · 389 citations

Fh Gene, Tumor Biology, Somatic Variant +13

Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity.

Jérôme Bertherat, Lionel Groussin, Fabiano Sandrini et al. · PubMed · 2003 · 253 citations

Genetics, Pathology, Functional Analysis +18

Loss of Brain Volume in Endogenous Cushing’s Syndrome and Its Reversibility after Correction of Hypercortisolism

Isabelle Bourdeau, Céline Bard, Bernard Noël et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 218 citations · Full text

Cerebral Atrophy, Glucocorticoid, Neuro-oncology +16

Clinical and Genetic Heterogeneity, Overlap with Other Tumor Syndromes, and Atypical Glucocorticoid Hormone Secretion in Adrenocorticotropin-Independent Macronodular Adrenal Hyperplasia Compared with Other Adrenocortical Tumors

Hui‐Pin Hsiao, Lawrence S. Kirschner, Isabelle Bourdeau et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 176 citations · Full text