Search Results - "Timmers, HJLM"
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1
Penetrance and clinical consequences of a gross SDHB deletion in a large family
Published in Clinical genetics (01-04-2009)“…Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are…”
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2
Pregnancy and phaeochromocytoma/paraganglioma: clinical clues affecting diagnosis and outcome – a systematic review
Published in BJOG : an international journal of obstetrics and gynaecology (01-07-2021)“…Background Phaeochromocytoma and paraganglioma (PPGL) in pregnancy, if not diagnosed antepartum, pose a high risk for mother and child. Objective To examine…”
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3
The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers
Published in Clinical genetics (01-01-2018)“…Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or…”
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4
Results of a systematic literature review of treatment modalities for jugulotympanic paraganglioma, stratified per Fisch class
Published in Clinical otolaryngology (01-04-2018)“…Objective Key for successful jugulotympanic paraganglioma management is a personalised approach aiming for the best practice for each individual patient. To…”
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5
Denervation of carotid baro- and chemoreceptors in humans
Published in The Journal of physiology (15-11-2003)“…Experimental denervation in animals has shown that carotid baro- and chemoreceptors play an eminent role in maintaining blood pressure and blood gas…”
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6
Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social–emotional functioning in young adults with Turner syndrome
Published in Hormones and behavior (01-03-2015)“…Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women…”
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7
Repeated transsphenoidal pituitary surgery (TS) via the endoscopic technique: a good therapeutic option for recurrent or persistent Cushing's disease (CD)
Published in Clinical endocrinology (Oxford) (01-02-2009)“…Summary Background No data on results of repeated transsphenoidal surgery via the endoscopic technique for patients with persistent or recurrent Cushing's…”
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8
Long-term effects of carotid sinus denervation on arterial blood pressure in humans
Published in Circulation (New York, N.Y.) (19-03-2002)“…After experimental carotid sinus denervation in animals, blood pressure (BP) level and variability increase markedly but normalize to preoperative levels…”
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9
Congenital Dopamine-β-Hydroxylase Deficiency in Humans
Published in Annals of the New York Academy of Sciences (01-06-2004)“…: Dopamine‐β‐hydroxylase (DβH) deficiency is a rare autosomal dominant disorder. Due to the absence of DβH, there is a blocked conversion of dopamine into…”
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10
Baroreflex and chemoreflex function after bilateral carotid body tumor resection
Published in Journal of hypertension (01-03-2003)“…OBJECTIVETo investigate whether bilateral carotid body tumor resection invariably and chronically affects arterial baroreflex or peripheral chemoreflex…”
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11
CASE REPORT: Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor
Published in Journal of internal medicine (01-08-2006)“…Familial benign hypocalciuric hypercalcaemia (FHH) results from a heterozygous inactivating mutation of the calcium-sensing receptor (CaR) and is characterized…”
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12
Cardiovascular Responses to Stress after Carotid Baroreceptor Denervation in Humans
Published in Annals of the New York Academy of Sciences (01-06-2004)“…: Iatrogenic bilateral denervation of carotid sinus baroreceptors may occur as a complication of carotid body tumor resection and radiation therapy of the…”
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13
Baroreflex failure: a neglected type of secondary hypertension
Published in Netherlands journal of medicine (01-05-2004)“…The arterial baroreflex buffers abrupt transients of blood pressure and prevents pressure from rising or falling excessively. In experimental animals,…”
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14
Baroreflex Control of Muscle Sympathetic Nerve Activity After Carotid Body Tumor Resection
Published in Hypertension (Dallas, Tex. 1979) (01-08-2003)“…ABSTRACT—Bilateral carotid body tumor resection causes a permanent attenuation of vagal baroreflex sensitivity. We retrospectively examined the effects of…”
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15
Long-term effects of unilateral carotid endarterectomy on arterial baroreflex function
Published in Clinical autonomic research (01-04-2004)“…Carotid endarterectomy (CE) may be complicated by the clinical syndrome of baroreflex failure. Alterations of baroreflex function may also account for the…”
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16
Arterial baroreflex and peripheral chemoreflex function after radiotherapy for laryngeal or pharyngeal cancer
Published in International journal of radiation oncology, biology, physics (01-08-2002)“…Denervation of the carotid sinus causes baroreflex and chemoreflex failure, resulting in labile hypertension and loss of hypoxic responsiveness. We…”
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17
Sustained hyperglycaemia increases muscle blood flow but does not affect sympathetic activity in resting humans
Published in European journal of applied physiology (01-03-2005)“…An increase in capillary blood flow and pressure in response to diabetes mellitus may lead to microangiopathy. We hypothesize that these haemodynamic changes…”
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18
Hemodynamic and neurohumoral responses to head-up tilt in patients with chronic fatigue syndrome
Published in Clinical autonomic research (01-08-2002)“…Data on the prevalence of orthostatic intolerance (OI) in patients with chronic fatigue syndrome (CFS) are limited and controversial. We tested the hypothesis…”
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The role of carotid chemoreceptors in the sympathetic activation by adenosine in humans
Published in Clinical science (1979) (01-01-2004)“…The direct vasodilatory and negative chronotropic effects of adenosine in humans are counterbalanced by a reflex increase in sympathetic nerve traffic. A…”
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20
Occam's razor; anaemia and orthostatic hypotension
Published in The Lancet (British edition) (18-10-2003)“…Vertigo is a common complaint in both chronic anaemia and orthostatic hypotension. However, it is not always safe to assume that orthostatic hypotension can be…”
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