Ludmila Matyakhina

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

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia

Anélia Horvath, Sosipatros A. Boikos, Christoforos Giatzakis et al. · Nature Genetics · 2006 · 342 citations

Adrenal Gland, Endocrine Disease, Genetic Disorder +10

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

A Mouse Model for the Carney Complex Tumor Syndrome Develops Neoplasia in Cyclic AMP–Responsive Tissues

Lawrence S. Kirschner, Donna F. Kusewitt, Ludmila Matyakhina et al. · Cancer Research · 2005 · 170 citations

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