Barbara Ferrando

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 · 487 citations

Life Sciences, Genetics, Molecular Genetics +10

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Jean‐Pierre Bayley, Ivonne van Minderhout, Marjan M. Weiss et al. · BMC Medical Genetics · 2006 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Succinate Dehydrogenase (SDH) D Subunit (SDHD) Inactivation in a Growth-Hormone-Producing Pituitary Tumor: A New Association for SDH?

Paraskevi Xekouki, Karel Pacák, Madson Q. Almeida et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 156 citations · Full text

Medicine, Endocrinology, Surgery +17

Multiple Gastrointestinal Stromal and Other Tumors Caused by Platelet-Derived Growth Factor Receptor α Gene Mutations: A Case Associated with a Germline V561D Defect

Barbara Pasini, Ludmila Matyakhina, Thalia Bei et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 54 citations · Full text

Medicine, Molecular Genetics, Oncology +17

A Novel Missense Mutation in Fumarate Hydratase in an Italian Patient with a Diffuse Variant of Cutaneous Leiomyomatosis (Reed’s Syndrome)

Franco Rongioletti, Valentina Fausti, Barbara Ferrando et al. · Dermatology · 2010 · 15 citations

Life Sciences, Dermatology, Genetics +17