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116 stored papers · Search its papers → · Its authors →

Papers 116

An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia
2023 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

14

citations
Anastrozole as add-on therapy for cabergoline-resistant prolactin-secreting pituitary adenomas: real-life experience in male patients
2021 Pituitary article Medicine Pituitary Gland Disorders and Treatments Open access

14

citations
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review
2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

13

citations
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease
2023 JACC. Cardiovascular imaging article Medicine Lysosomal Storage Disorders Research Open access

12

citations
Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
2021 Nefrología (English Edition) article Medicine Renal function and acid-base balance Open access

12

citations
Thyrotropin-secreting tumor “TSH-PitNET”: From diagnosis to treatment
2023 Annales d Endocrinologie article Medicine Pituitary Gland Disorders and Treatments Open access

12

citations
Global longitudinal strain as a marker for systolic function in patients with pheochromocytomas
2020 Endocrine Related Cancer article Medicine Cardiovascular Function and Risk Factors

12

citations
Educational and knowledge gaps within the European reference network on rare endocrine conditions
2020 Endocrine Connections article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

11

citations
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations
2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

11

citations
Altered Red Blood Cell Fatty Acid and Serum Adipokine Profiles in Subjects with Obesity
2023 Biomedicines article Medicine Adipokines, Inflammation, and Metabolic Diseases Open access

10

citations
Addition of progesterone to feminizing gender-affirming hormone therapy in transgender individuals for breast development: a randomized controlled trial
2023 BMC Pharmacology and Toxicology article Psychology LGBTQ Health, Identity, and Policy Open access

10

citations
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study
2024 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

10

citations
European Reference Networks – a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025
2026 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

9

citations
Newborn screening for central congenital hypothyroidism: past, present and future
2025 European Thyroid Journal article Medicine Thyroid Disorders and Treatments Open access

9

citations
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
2025 EBioMedicine article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

9

citations
EndoERN patient survey on their perception of health care experience and of unmet needs for rare endocrine diseases
2021 Endocrine article Medicine Adrenal Hormones and Disorders

8

citations
Endocrine and metabolic determinants of cardiometabolic risk in mild autonomous cortisol secretion
2026 EBioMedicine article Medicine Adrenal and Paraganglionic Tumors Open access

8

citations
Access to patient oriented information—a baseline Endo-ERN survey among patients with rare endocrine disorders
2021 Endocrine article Health Professions Health Literacy and Information Accessibility Open access

7

citations
Hyperprolactinemia in Adults with Prader-Willi Syndrome
2021 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

6

citations
PERSPECTIVE: Treatment with hydrocortisone modified-release capsules in children and adolescents with congenital adrenal hyperplasia: an expert opinion
2025 Endocrine Connections article Medicine Adrenal Hormones and Disorders Open access

6

citations

Most cited authors