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

Papers 116

Spanish consensus on the diagnosis and management of adrenocortical carcinoma
2025 Endocrine Related Cancer article Medicine Adrenal and Paraganglionic Tumors Open access

6

citations
Broader impact and outcome of human NR5A1/SF1 variants
2025 Best Practice & Research Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access

6

citations
Associations Between Fatigue and Endocrine and Non-endocrine Health Problems in Turner Syndrome: Cohort Study and Review
2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Open access

6

citations
Laminopathies: natural history and risk prediction of heart failure
2026 European Heart Journal article Medicine Cardiomyopathy and Myosin Studies

5

citations
Cell Lineage-Specific Differences in Clinical Behavior of Non-Functioning Pituitary Adenomas
2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Pituitary Gland Disorders and Treatments Open access

5

citations
Long-term safety and efficacy of pegvisomant monotherapy for acromegaly: final data from the full ACROSTUDY cohort
2026 Pituitary article Medicine Pituitary Gland Disorders and Treatments Open access

5

citations
Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP)
2024 Annales d Endocrinologie article Medicine Pituitary Gland Disorders and Treatments Open access

5

citations
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis
2024 PLoS ONE review Medicine Thyroid Disorders and Treatments Open access

5

citations
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
2023 Frontiers in Endocrinology review Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access

5

citations
Defining a Growing and Maturing Skeleton and its Relevance in Diseases that Affect Skeletal Growth, Such as X-Linked Hypophosphataemia (XLH)
2021 International Journal of Rare Diseases & Disorders article Medicine Parathyroid Disorders and Treatments Open access

5

citations
Hyponatremia in Children and Adults with Prader–Willi Syndrome: A Survey Involving Seven Countries
2021 Journal of Clinical Medicine article Medicine Electrolyte and hormonal disorders Open access

5

citations
Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers
2022 Endocrine Connections article Health Professions Adolescent and Pediatric Healthcare Open access

4

citations
Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up
2024 PLoS ONE review Medicine Thyroid Disorders and Treatments Open access

4

citations
Precision T cell correction platform for inborn errors of immunity
2025 Molecular Therapy article Biochemistry, Genetics and Molecular Biology CRISPR and Genetic Engineering Open access

4

citations
Exploring the values, preferences, and information needs of patients with NKX2-1-related disorders: A qualitative study protocol
2023 PLoS ONE article Health Professions Mental Health and Patient Involvement Open access

3

citations
Continuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS)
2025 Endocrine Connections article Health Professions Adolescent and Pediatric Healthcare Open access

3

citations
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1
2024 Frontiers in Endocrinology article Medicine Neurofibromatosis and Schwannoma Cases Open access

3

citations
Bone mineral density over ten years after primary parathyroidectomy in multiple endocrine neoplasia type 1
2024 JBMR Plus article Medicine Parathyroid Disorders and Treatments Open access

3

citations
Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome
2025 The Journal of Clinical Endocrinology & Metabolism article Medicine Hypothalamic control of reproductive hormones Open access

3

citations
Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action DSDnet and European Reference Network on Rare Endocrine Conditions
2021 Yearbook of pediatric endocrinology article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders

3

citations

Most cited authors