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Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Annales d'endocrinologie, 2024-06, Vol.85 (3), p.190-194

2024

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Leptin replacement therapy in the management of lipodystrophy syndromes

Annales d'endocrinologie, 2024-06, Vol.85 (3), p.201-204

2024

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Molecular and Cellular Bases of Lipodystrophy Syndromes

Frontiers in endocrinology (Lausanne), 2022-01, Vol.12, p.803189-803189

2022

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Rare genetic causes of obesity: Diagnosis and management in clinical care

Annales d'endocrinologie, 2022-02, Vol.83 (1), p.63-72

2022

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GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

Human reproduction (Oxford), 2020-10, Vol.35 (10), p.2312-2322

2020

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Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center

Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.177-177, Article 177

2024

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Autoimmune Addison's disease in the preclinical period mimics malignancy on 18F-FDG PET/CT

Annales d'endocrinologie, 2024-02, Vol.85 (1), p.82-84

2024

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Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy

European journal of endocrinology, 2024-01, Vol.190 (1), p.23-33

2024

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Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients

Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.1-325, Article 325

2021

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Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery

Surgery for obesity and related diseases, 2017-07, Vol.13 (7), p.1248-1250

2017

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MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Journal of clinical lipidology, 2018-11, Vol.12 (6), p.1420-1435

2018

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Looking at New Unexpected Disease Targets in LMNA -Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Cells (Basel, Switzerland), 2020-03, Vol.9 (3), p.765

2020

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Diabetes Mellitus, Extreme Insulin Resistance, and Hypothalamic-Pituitary Langerhans Cells Histiocytosis

Case reports in endocrinology, 2019-01, Vol.2019 (2019), p.1-8

2019

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Prevalence and severity of malnutrition in hospitalized COVID-19 patients

Clinical nutrition ESPEN, 2020-12, Vol.40, p.214-219

2020

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Mucosal‐associated invariant T (MAIT) cells are depleted and prone to apoptosis in cardiometabolic disorders

The FASEB journal, 2018-09, Vol.32 (9), p.5078-5089

2018

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Physical Activity in Patients with Prader-Willi Syndrome—A Systematic Review of Observational and Interventional Studies

Journal of clinical medicine, 2021-06, Vol.10 (11), p.2528

2021

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Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.202-202, Article 202

2021

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Partial lipodystrophy: Clinical presentation and treatment

Annales d'endocrinologie, 2024-06, Vol.85 (3), p.197-200

2024

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Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients

Journal of clinical medicine, 2021-11, Vol.10 (22), p.5310

2021

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Acromégalie : améliorer la prise en charge

Annales d'endocrinologie, 2019-09, Vol.80, p.S10-S18

2019

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FOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER–WILLI SYNDROME

Retinal cases & brief reports, 2024-09, Vol.18 (5), p.647-650

2024

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A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes

Cardiogenetics, 2023-12, Vol.13 (4), p.135-144

2023

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Primary disease of adipose tissue: When to think about and how to evaluate it in clinical practice?

Leptin replacement therapy in the management of lipodystrophy syndromes

Molecular and Cellular Bases of Lipodystrophy Syndromes

Rare genetic causes of obesity: Diagnosis and management in clinical care

GnRH stimulation testing and serum inhibin B in males: insufficient specificity for discriminating between congenital hypogonadotropic hypogonadism from constitutional delay of growth and puberty

Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center

Autoimmune Addison's disease in the preclinical period mimics malignancy on 18F-FDG PET/CT

Patients' perspective on the medical pathway from first symptoms to diagnosis in genetic lipodystrophy

Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patients

Therapeutic indications and metabolic effects of metreleptin in patients with lipodystrophy syndromes: Real‐life experience from a national reference network

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

Metabolic signatures in an adolescent with Silver-Russell syndrome and outcomes after bariatric surgery

MFN2-associated lipomatosis: Clinical spectrum and impact on adipose tissue

Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7-8 April 2022

Looking at New Unexpected Disease Targets in LMNA -Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice

Diabetes Mellitus, Extreme Insulin Resistance, and Hypothalamic-Pituitary Langerhans Cells Histiocytosis

Prevalence and severity of malnutrition in hospitalized COVID-19 patients

Mucosal‐associated invariant T (MAIT) cells are depleted and prone to apoptosis in cardiometabolic disorders

Physical Activity in Patients with Prader-Willi Syndrome—A Systematic Review of Observational and Interventional Studies

Effects of the COVID-19 pandemic and lockdown on the mental and physical health of adults with Prader-Willi syndrome

Partial lipodystrophy: Clinical presentation and treatment

Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients

Acromégalie : améliorer la prise en charge

FOVEA PLANA AND FUNDUS HYPOPIGMENTATION IN PRADER–WILLI SYNDROME

A Family with a Single LMNA Mutation Illustrates Diversity in Cardiac Phenotypes Associated with Laminopathic Progeroid Syndromes

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