Search Results - "Beuschlein, Felix"
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Adrenocortical carcinoma — towards genomics guided clinical care
Published in Nature reviews. Endocrinology (01-09-2019)“…Adrenocortical carcinoma (ACC) is an aggressive and rare neoplasm that originates in the cortex of the adrenal gland. The disease is associated with…”
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2
Personalized Management of Pheochromocytoma and Paraganglioma
Published in Endocrine reviews (01-04-2022)“…Pheochromocytomas/paragangliomas are characterized by a unique molecular landscape that allows their assignment to clusters based on underlying genetic…”
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Subclinical hypercortisolism: a state, a syndrome, or a disease?
Published in European journal of endocrinology (01-10-2015)“…Subclinical hypercortisolism (SH), defined as alterations of the hypothalamus–pituitary–adrenal axis in the absence of clinical signs or symptoms related to…”
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Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension
Published in Journal of hypertension (01-10-2020)“…Autonomous aldosterone overproduction represents the underlying condition of 5–10% of patients with arterial hypertension and carries a significant burden of…”
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International Histopathology Consensus for Unilateral Primary Aldosteronism
Published in The journal of clinical endocrinology and metabolism (01-01-2021)“…Abstract Objective Develop a consensus for the nomenclature and definition of adrenal histopathologic features in unilateral primary aldosteronism (PA)…”
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6
Secondary hypertension as a cause of treatment resistance
Published in Blood pressure (31-12-2023)“…In secondary hypertension, elevated blood pressure is caused by a known and/or potentially treatable underlying disease. Although the prevalence of secondary…”
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7
β-Catenin and FGFR2 regulate postnatal rosette-based adrenocortical morphogenesis
Published in Nature communications (03-04-2020)“…Rosettes are widely used in epithelial morphogenesis during embryonic development and organogenesis. However, their role in postnatal development and adult…”
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Biochemical Diagnosis of Chromaffin Cell Tumors in Patients at High and Low Risk of Disease: Plasma versus Urinary Free or Deconjugated O -Methylated Catecholamine Metabolites
Published in Clinical chemistry (Baltimore, Md.) (01-11-2018)“…Measurements of plasma or urinary metanephrines are recommended for diagnosis of pheochromocytoma and paraganglioma (PPGL). What test offers optimal diagnostic…”
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Outcome of Bilateral Adrenalectomy in Cushing's Syndrome: A Systematic Review
Published in The journal of clinical endocrinology and metabolism (01-10-2013)“…Background: The outcome of bilateral adrenalectomy (BADx) in patients with Cushing's syndrome (CS) is not well characterized. Methods: A literature search was…”
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10
Integrated genomic characterization of adrenocortical carcinoma
Published in Nature genetics (01-06-2014)“…Jérôme Bertherat, Aurélien de Reyniès and colleagues perform integrated genomic analyses of adrenocortical carcinomas. They discover recurrent alterations in…”
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Adrenal Function After Adrenalectomy for Subclinical Hypercortisolism and Cushing's Syndrome: A Systematic Review of the Literature
Published in The journal of clinical endocrinology and metabolism (01-08-2014)“…Context: The postoperative course of patients with subclinical hypercortisolism (SH) is yet to be clarified. The aims are to review the prevalence and…”
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12
Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study
Published in Endocrine (01-03-2022)“…Context Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of…”
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13
The impact of Connshing's syndrome - mild cortisol excess in primary aldosteronism drives diabetes risk
Published in Journal of hypertension (01-12-2017)Get full text
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14
Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study
Published in The journal of clinical endocrinology and metabolism (01-06-2019)“…Abstract Background Malignant pheochromocytoma and paraganglioma (MPP) are characterized by prognostic heterogeneity. Our objective was to look for prognostic…”
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Genetic Spectrum and Clinical Correlates of Somatic Mutations in Aldosterone-Producing Adenoma
Published in Hypertension (Dallas, Tex. 1979) (01-08-2014)“…Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5, ATP1A1, ATP2B3, and CACNA1D have been described in…”
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The role of regulated necrosis in endocrine diseases
Published in Nature reviews. Endocrinology (01-08-2021)“…The death of endocrine cells is involved in type 1 diabetes mellitus, autoimmunity, adrenopause and hypogonadotropism. Insights from research on basic cell…”
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Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome
Published in The New England journal of medicine (13-03-2014)“…Corticotropin-independent Cushing's syndrome occurs with adrenocortical tumors or hyperplasia. The authors report that germline duplications of PRKACA lead to…”
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Major Prognostic Role of Ki67 in Localized Adrenocortical Carcinoma After Complete Resection
Published in The journal of clinical endocrinology and metabolism (01-03-2015)“…Background: Recurrence of adrenocortical carcinoma (ACC) even after complete (R0) resection occurs frequently. Objective: The aim of this study was to identify…”
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Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension
Published in Nature genetics (01-04-2013)“…Felix Beuschlein, Martin Reincke and colleagues identify recurrent somatic mutations in ATP1A1 and ATP2B3 in aldosterone-producing adenomas with wild-type…”
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Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas
Published in The journal of clinical endocrinology and metabolism (01-04-2017)“…Abstract Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared with…”
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