selected publications
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KDM1A genetic alterations, a rare cause of primary bilateral macronodular adrenal hyperplasia, strongly associated with food-dependent Cushing's syndrome: results of its systematic germline screening in 301 index cases and genotype/phenotype correlation.
European journal of endocrinology.
2025
Academic Article
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Times cited: 2 -
Paediatric Cushing syndrome: a prospective, multisite, observational cohort study.
The Lancet. Child & adolescent health.
2024
Academic Article
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Times cited: 3 -
Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome.
The Journal of investigative dermatology.
2022
Academic Article
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Times cited: 2 -
Protein kinase A drives paracrine crisis and WNT4-dependent testis tumor in Carney complex.
The Journal of clinical investigation.
2021
Academic Article
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Times cited: 2 -
A case of Carney triad complicated by renal cell carcinoma and a germline SDHA pathogenic variant.
Endocrinology, diabetes & metabolism case reports.
2021
Academic Article
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Times cited: 2 -
Molecular Genetic and Genomic Alterations in Cushing's Syndrome and Primary Aldosteronism.
Frontiers in endocrinology.
2021
Review
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Times cited: 23 -
First Somatic PRKAR1A Defect Associated With Mosaicism for Another PRKAR1A Mutation in a Patient With Cushing Syndrome.
Journal of the Endocrine Society.
2021
Academic Article
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Times cited: 6 -
Volumetric Modeling of Adrenal Gland Size in Primary Bilateral Macronodular Adrenocortical Hyperplasia.
Journal of the Endocrine Society.
2020
Academic Article
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Times cited: 16 -
Curative resection of an aldosteronoma causing primary aldosteronism in the second trimester of pregnancy.
Endocrinology, diabetes & metabolism case reports.
2020
Academic Article
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Times cited: 5 -
Endocrine Conditions and COVID-19.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme.
2020
Review
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Times cited: 38 -
Adrenocortical tumorigenesis: Lessons from genetics.
Best practice & research. Clinical endocrinology & metabolism.
2020
Review
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Times cited: 50 -
Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia.
Endocrinology, diabetes & metabolism case reports.
2020
Academic Article
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Times cited: 2 -
Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.
2020
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Times cited: 17 -
Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis.
Frontiers in endocrinology.
2019
Review
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Times cited: 142 -
An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade.
Hormones (Athens, Greece).
2018
Review
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Times cited: 5 -
Carney Complex.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.
2018
Review
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Times cited: 105 - Coronary Vasospasm and Bowel Ischemia in a Patient with Metastatic Gastrointestinal Carcinoid. 2016 GET IT