Sotirios Stergiopoulos

Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

Barbara Pasini, Sarah R. McWhinney, Thalia Bei et al. · European Journal of Human Genetics · 2007 · 482 citations · Full text

Genetic Disorder, Medicine, Genetics +10

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

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

Genetics of Carney Triad: Recurrent Losses at Chromosome 1 but Lack of Germline Mutations in Genes Associated with Paragangliomas and Gastrointestinal Stromal Tumors

Ludmila Matyakhina, Thalia Bei, Sarah R. McWhinney et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 150 citations · Full text

Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions

Artur Zembowicz, Stewart M. Knoepp, Thalia Bei et al. · The American Journal of Surgical Pathology · 2007 · 126 citations